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1. Mono- and biallelic variant effects on disease at biobank scale

Author: Heyne, H. O., Karjalainen, J., Karczewski, K. J., Lemmelä, S. M., Zhou, W., Havulinna, A. S., Kurki, M., Rehm, H. L., Palotie, A., and Daly, M. J.
Published: 2023
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2. Impact and Feasibility of Information Technology to Support Adolescent Well-Being and Mental Health at School: A Quasi-Experimental Study

Author: Anttila M, Lantta T, Ylitalo M, Kurki M, Kuuskorpi M, and Välimäki M
Subjects: teenaged, universal intervention, mental health support, it-based program, pupils, Medicine (General), R5-920
Abstract: Minna Anttila,1 Tella Lantta,1 Milla Ylitalo,1,2 Marjo Kurki,1,3 Marko Kuuskorpi,4 Maritta Välimäki1,5 1Department of Nursing Science, University of Turku, Turku, Southwest Finland, Finland; 2Laurea University of Applied Sciences, Vantaa, Uusimaa Region, Finland; 3Itla Children’s Foundation, Helsinki, Uusimaa Region, Finland; 4Piikkiö comprehensive school, Kaarina, Southwest Finland, Finland; 5Xiangya School of Nursing, Central South University, Changsha, Hunan, People’s Republic of ChinaCorrespondence: Maritta VälimäkiXiangya Nursing School, Central South University, 172 Tongzipo Road, Changsha, Hunan 410013, China; Department of Nursing Science, University of Turku, Turku, Southwest Finland, FinlandTel +358 40 559 9235Fax +358 29 450 5040Email maritta.vaelimaeki@csu.edu.cnPurpose: Health-related behaviors that arise during adolescence can have important, sometimes lifelong, implications on a person’s health. Psychiatric and neurodevelopmental diagnoses among minors have increased, and the related depressive symptoms may negatively affect quality of life. There is great potential for information technology (IT) to benefit the area of mental health for adolescents, and schools can serve as a setting in which this can be done. We tested whether the IT-based program “DepisNet” could be used as a universal school-based program to support adolescents’ well-being and mental health.Patients and Methods: We used a quasi-experimental, pre-post design with two preference arms (intervention and control groups). The study setting comprised two lower secondary schools (N=151 adolescents) in one city in Finland. To analyze the impact of the program, we compared the changes in the outcome measures between the two groups using T-tests and Mann–Whitney U-tests. We analyzed the changes within the groups using T-tests and Wilcoxon tests.Results: Our analysis revealed no statistically significant differences between the groups in any of the outcomes (depression, quality of life, self-esteem, self-efficacy). Regarding adolescents’ quality of life, the observed change was more positive in the intervention group, compared to that of the control group (change mean 1.36 vs − 0.49), although statistical significance was not achieved (p=0.10). Our results indicated encouraging results related to the feasibility components: adherence and acceptance.Conclusion: Universal interventions and programs that relate to adolescent well-being and mental health can be integrated into school curricula to promote the awareness of adolescents’ general well-being and mental health issues.Keywords: teenaged, universal intervention, mental health support, IT-based program, pupils
Published: 2021

3. Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.

Author: Rämö, J.T., Abner, E., Dijk, E.H.C. van, Wang, X., Brinks, J., Nikopensius, T., Nõukas, M., Marjonen, H., Silander, K., Jukarainen, S., Kiiskinen, T., Choi, S.H., Kajanne, R., Mehtonen, J., Palta, P., Lubitz, S.A., Kaarniranta, K., Sobrin, L., Kurki, M., Yzer, S., Ellinor, P.T., Esko, T., Daly, M.J., Hollander, A.I. den, Palotie, A., Turunen, J.A., Boon, C.J.F., Rossin, E.J., Rämö, J.T., Abner, E., Dijk, E.H.C. van, Wang, X., Brinks, J., Nikopensius, T., Nõukas, M., Marjonen, H., Silander, K., Jukarainen, S., Kiiskinen, T., Choi, S.H., Kajanne, R., Mehtonen, J., Palta, P., Lubitz, S.A., Kaarniranta, K., Sobrin, L., Kurki, M., Yzer, S., Ellinor, P.T., Esko, T., Daly, M.J., Hollander, A.I. den, Palotie, A., Turunen, J.A., Boon, C.J.F., and Rossin, E.J.
Abstract: Item does not contain fulltext, IMPORTANCE: Central serous chorioretinopathy (CSC) is a serous maculopathy of unknown etiology. Two of 3 previously reported CSC genetic risk loci are also associated with AMD. Improved understanding of CSC genetics may broaden our understanding of this genetic overlap and unveil mechanisms in both diseases. OBJECTIVE: To identify novel genetic risk factors for CSC and compare genetic risk factors for CSC and AMD. DESIGN, SETTING, AND PARTICIPANTS: Using International Classification of Diseases, Ninth (ICD-9) and Tenth (ICD-10) Revision code-based inclusion and exclusion criteria, patients with CSC and controls were identified in both the FinnGen study and the Estonian Biobank (EstBB). Also included in a meta-analysis were previously reported patients with chronic CSC and controls. Data were analyzed from March 1 to September 31, 2022. MAIN OUTCOMES AND MEASURES: Genome-wide association studies (GWASs) were performed in the biobank-based cohorts followed by a meta-analysis of all cohorts. The expression of genes prioritized by the polygenic priority score and nearest-gene methods were assessed in cultured choroidal endothelial cells and public ocular single-cell RNA sequencing data sets. The predictive utility of polygenic scores (PGSs) for CSC and AMD were evaluated in the FinnGen study. RESULTS: A total of 1176 patients with CSC and 526 787 controls (312 162 female [59.3%]) were included in this analysis: 552 patients with CSC and 343 461 controls were identified in the FinnGen study, 103 patients with CSC and 178 573 controls were identified in the EstBB, and 521 patients with chronic CSC and 3577 controls were included in a meta-analysis. Two previously reported CSC risk loci were replicated (near CFH and GATA5) and 3 novel loci were identified (near CD34/46, NOTCH4, and PREX1). The CFH and NOTCH4 loci were associated with AMD but in the opposite direction. Prioritized genes showed increased expression in cultured choroidal endothelial cells compared with other
Published: 2023

4. Validation of diagnoses of atopic dermatitis in hospital registries:a cross-sectional database study from Finland

Author: Kurki, M. (Miika), Sinikumpu, S.-P. (Suvi-Päivikki), Kiviniemi, E. (Eetu), Jokelainen, J. (Jari), Huilaja, L. (Laura), Kurki, M. (Miika), Sinikumpu, S.-P. (Suvi-Päivikki), Kiviniemi, E. (Eetu), Jokelainen, J. (Jari), and Huilaja, L. (Laura)
Published: 2023

5. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Author: Bosch, E., Popp, B., Güse, E., Skinner, C., Sluijs, P.J. van der, Maystadt, I., Pinto, Ameet J., Renieri, A., Bruno, L.P., Granata, S., Marcelis, C.L., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., Marco, P. De, Ognibene, M., Jamra, R.A., Platzer, K., Carter, L.B., Kuismin, O., Haeringen, A. van, Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J.A., Rabani, A.M., Mefford, H.C., Pereira, E.M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M.C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P.T., McGinnis, E., Millichap, J., Kamp, J.M. van de, Prijoles, E.J., Dobson, A., Shillington, A., Graham, B.H., Garcia, E.J., Galindo, M.K., Ropers, F.G., Nibbeling, E.A., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M.M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R.E., Santen, G.W.E., Zweier, M., Campeau, P.M., Severino, M., Reis, A., Accogli, A., Vasileiou, G., Bosch, E., Popp, B., Güse, E., Skinner, C., Sluijs, P.J. van der, Maystadt, I., Pinto, Ameet J., Renieri, A., Bruno, L.P., Granata, S., Marcelis, C.L., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., Marco, P. De, Ognibene, M., Jamra, R.A., Platzer, K., Carter, L.B., Kuismin, O., Haeringen, A. van, Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J.A., Rabani, A.M., Mefford, H.C., Pereira, E.M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M.C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P.T., McGinnis, E., Millichap, J., Kamp, J.M. van de, Prijoles, E.J., Dobson, A., Shillington, A., Graham, B.H., Garcia, E.J., Galindo, M.K., Ropers, F.G., Nibbeling, E.A., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M.M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R.E., Santen, G.W.E., Zweier, M., Campeau, P.M., Severino, M., Reis, A., Accogli, A., and Vasileiou, G.
Abstract: Contains fulltext : 299984.pdf (Publisher’s version ) (Open Access), PURPOSE: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. METHODS: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF-subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays. RESULTS: Neurodevelopmental delay with intellectual disability, muscular hypotonia, and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, whereas non-truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD. CONCLUSION: This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated., 01 november 2023
Published: 2023

6. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Author: Tallgren, A. (Antti), Kager, L. (Leo), O’Grady, G. (Gina), Tuominen, H. (Hannu), Körkkö, J. (Jarmo), Kuismin, O. (Outi), Feucht, M. (Martha), Wilson, C. (Callum), Behunova, J. (Jana), England, E. (Eleina), Kurki, M. I. (Mitja I.), Palotie, A. (Aarno), Hallman, M. (Mikko), Kaarteenaho, R. (Riitta), Laccone, F. (Franco), Boztug, K. (Kaan), Hinttala, R. (Reetta), Uusimaa, J. (Johanna), Tallgren, A. (Antti), Kager, L. (Leo), O’Grady, G. (Gina), Tuominen, H. (Hannu), Körkkö, J. (Jarmo), Kuismin, O. (Outi), Feucht, M. (Martha), Wilson, C. (Callum), Behunova, J. (Jana), England, E. (Eleina), Kurki, M. I. (Mitja I.), Palotie, A. (Aarno), Hallman, M. (Mikko), Kaarteenaho, R. (Riitta), Laccone, F. (Franco), Boztug, K. (Kaan), Hinttala, R. (Reetta), and Uusimaa, J. (Johanna)
Abstract: Purpose: FINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial report in 2018, additional patients have been described. FINCA is the first human disease caused by recessive variants in the highly conserved NHLRC2 gene. Our previous studies have shown that Nhlrc2-null mouse embryos die during gastrulation, indicating the essential role of the protein in embryonic development. Defect in NHLRC2 leads to cerebral neurodegeneration and severe pulmonary, hepatic and cardiac fibrosis. Despite having a structure suggestive of an enzymatic role and the clinical importance of NHLRC2 in multiple organs, the specific physiological role of the protein is unknown. Methods: The clinical histories of five novel FINCA patients diagnosed with whole exome sequencing were reviewed. Segregation analysis of the biallelic, potentially pathogenic NHLRC2 variants was performed using Sanger sequencing. Studies on neuropathology and NHLRC2 expression in different brain regions were performed on autopsy samples of three previously described deceased FINCA patients. Results: One patient was homozygous for the pathogenic variant c.442G > T, while the other four were compound heterozygous for this variant and two other pathogenic NHLRC2 gene variants. All five patients presented with multiorgan dysfunction with neurodevelopmental delay, recurrent infections and macrocytic anemia as key features. Interstitial lung disease was pronounced in infancy but often stabilized. Autopsy samples revealed widespread, albeit at a lower intensity than the control, NHLRC2 expression in the brain. Conclusion: This report expands on the characteristic clinical features of FINCA disease. Presentation is typically in infancy, and although patients can live to late adulthood, the key clinical and histopathological features are fibrosis, infection susceptibility/immunodeficiency/intellectual disa
Published: 2023

7. Distinct and shared genetic architectures of Gestational diabetes mellitus and Type 2 Diabetes Mellitus

Author: Elliott, A., Walters, R. K., Pirinen, M., Kurki, M., Junna, N., Goldstein, J., Reeve, M.P., Siirtola, H., Lemmelä, S., Turley, P., Palotie, A., Daly, M., and Widén, E.
Subjects: Article
Abstract: Gestational diabetes mellitus (GDM) affects more than 16 million pregnancies annually worldwide and is related to an increased lifetime risk of Type 2 diabetes (T2D). The diseases are hypothesized to share a genetic predisposition, but there are few GWAS studies of GDM and none of them is sufficiently powered to assess whether any variants or biological pathways are specific to GDM. We conducted the largest genome-wide association study of GDM to date in 12,332 cases and 131,109 parous female controls in the FinnGen Study and identified 13 GDM-associated loci including 8 novel loci. Genetic features distinct from T2D were identified both at the locus and genomic scale. Our results suggest that the genetics of GDM risk falls into two distinct categories – one part conventional T2D polygenic risk and one part predominantly influencing mechanisms disrupted in pregnancy. Loci with GDM-predominant effects map to genes related to islet cells, central glucose homeostasis, steroidogenesis, and placental expression. These results pave the way for an improved biological understanding of GDM pathophysiology and its role in the development and course of T2D.
Published: 2023

8. New insights into the genetic etiology of Alzheimer's disease and related dementias

Author: Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. J., Launer, L., Lauria, A., Lee, C. -Y., Lehtisalo, J., Lerch, O., Lleó, A., Longstreth, W., Lopez, O., de Munain, A. L., Love, S., Löwemark, M., Luckcuck, L., Lunetta, K. L., Ma, Y., Macías, J., Macleod, C. A., Maier, W., Mangialasche, F., Spallazzi, M., Marquié, M., Marshall, R., Martin, E. R., Montes, A. M., Rodríguez, C. M., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Medina, M., Meggy, A., Mehrabian, S., Mendoza, S., Menéndez-González, M., Mir, P., Moebus, S., Mol, M., Molina-Porcel, L., Montrreal, L., Morelli, L., Moreno, F., Morgan, K., Mosley, T., Nöthen, M. M., Muchnik, C., Mukherjee, S., Nacmias, B., Ngandu, T., Nicolas, G., Nordestgaard, B. G., Olaso, R., Orellana, A., Orsini, M., Ortega, G., Padovani, A., Paolo, C., Papenberg, G., Parnetti, L., Pasquier, F., Pastor, P., Peloso, G., Pérez-Cordón, A., Pérez-Tur, J., Pericard, P., Peters, O., Pijnenburg, Y. A. L., Pineda, J. A., Piñol-Ripoll, G., Pisanu, C., Polak, T., Popp, J., Posthuma, D., Priller, J., Puerta, R., Quenez, O., Quintela, I., Thomassen, J. Q., Rábano, A., Rainero, I., Rajabli, F., Ramakers, I., Real, L. M., Reinders, M. J. T., Reitz, C., Reyes-Dumeyer, D., Ridge, P., Riedel-Heller, S., Riederer, P., Roberto, N., Rodriguez-Rodriguez, E., Rongve, A., Allende, I. R., Rosende-Roca, M., Royo, J. L., Rubino, E., Rujescu, D., Sáez, M. E., Sakka, P., Saltvedt, I., Sanabria, Á., Sánchez-Arjona, M. B., Sanchez-Garcia, F., Juan, P. S., Sánchez-Valle, R., Sando, S. B., Sarnowski, C., Satizabal, C. L., Scamosci, M., Scarmeas, N., Scarpini, E., Scheltens, P., Scherbaum, N., Scherer, M., Schmid, M., Schneider, A., Schott, J. M., Selbæk, G., Seripa, D., Serrano, M., Sha, J., Shadrin, A. A., Skrobot, O., Slifer, S., Snijders, G. J. L., Soininen, H., Solfrizzi, V., Solomon, A., Song, Y. E., Sorbi, S., Sotolongo-Grau, O., Spalletta, G., Spottke, A., Squassina, A., Stordal, E., Tartan, J. P., Tárraga, L., Tesí, N., Thalamuthu, A., Thomas, T., Tosto, G., Traykov, L., Tremolizzo, L., Tybjærg-Hansen, A., Uitterlinden, A., Ullgren, A., Ulstein, I., Valero, S., Valladares, O., Broeckhoven, C. V., Vance, J., Vardarajan, B. N., van der Lugt, A., Dongen, J. V., van Rooij, J., van Swieten, J., Vandenberghe, R., Verhey, F., Vidal, J. -S., Vogelgsang, J., Vyhnalek, M., Wagner, M., Wallon, D., Wang, L. -S., Wang, R., Weinhold, L., Wiltfang, J., Windle, G., Woods, B., Yannakoulia, M., Zare, H., Zhao, Y., Zhang, X., Zhu, C., Zulaica, M., Laczo, J., Matoska, V., Serpente, M., Assogna, F., Piras, F., Ciullo, V., Shofany, J., Ferrarese, C., Andreoni, S., Sala, G., Zoia, C. P., Zompo, M. D., Benussi, A., Bastiani, P., Takalo, M., Natunen, T., Laatikainen, T., Tuomilehto, J., Antikainen, R., Strandberg, T., Lindström, J., Peltonen, M., Abraham, R., Al-Chalabi, A., Bass, N. J., Brayne, C., Brown, K. S., Collinge, J., Craig, D., Deloukas, P., Fox, N., Gerrish, A., Gill, M., Gwilliam, R., Harold, D., Hollingworth, P., Johnston, J. A., Jones, L., Lawlor, B., Livingston, G., Lovestone, S., Lupton, M., Lynch, A., Mann, D., Mcguinness, B., Mcquillin, A., O’Donovan, M. C., Owen, M. J., Passmore, P., Powell, J. F., Proitsi, P., Rossor, M., Shaw, C. E., Smith, A. D., Gurling, H., Todd, S., Mummery, C., Ryan, N., Lacidogna, G., Adarmes-Gómez, A., Mauleón, A., Pancho, A., Gailhajenet, A., Lafuente, A., Macias-García, D., Martín, E., Pelejà, E., Carrillo, F., Merlín, I. S., Garrote-Espina, L., Vargas, L., Carrion-Claro, M., Marín, M., Labrador, M., Buendia, M., Alonso, M. D., Guitart, M., Moreno, M., Ibarria, M., Periñán, M., Aguilera, N., Gómez-Garre, P., Cañabate, P., Escuela, R., Pineda-Sánchez, R., Vigo-Ortega, R., Jesús, S., Preckler, S., Rodrigo-Herrero, S., Diego, S., Vacca, A., Roveta, F., Salvadori, N., Chipi, E., Boecker, H., Laske, C., Perneczky, R., Anastasiou, C., Janowitz, D., Malik, R., Anastasiou, A., Parveen, K., López-García, S., Antonell, A., Mihova, K. Y., Belezhanska, D., Weber, H., Kochen, S., Solis, P., Medel, N., Lisso, J., Sevillano, Z., Politis, D. G., Cores, V., Cuesta, C., Ortiz, C., Bacha, J. I., Rios, M., Saenz, A., Abalos, M. S., Kohler, E., Palacio, D. L., Etchepareborda, I., Kohler, M., Novack, G., Prestia, F. A., Galeano, P., Castaño, E. M., Germani, S., Toso, C. R., Rojo, M., Ingino, C., Mangone, C., Rubinsztein, D. C., Teipel, S., Fievet, N., Deramerourt, V., Forsell, C., Thonberg, H., Bjerke, M., Roeck, E. D., Martínez-Larrad, M. T., Olivar, N., Cano, A., Macias, J., Maroñas, O., Nuñez-Llaves, R., Olivé, C., Adarmes-Gómez, A. D., Amer-Ferrer, G., Antequera, M., Burguera, J. A., Casajeros, M. J., Martinez de Pancorbo, M., Hevilla, S., Espinosa, M. A. L., Legaz, A., Manzanares, S., Marín-Muñoz, J., Marín, T., Martínez, B., Martínez, V., Martínez-Lage Álvarez, P., Iriarte, M. M., Periñán-Tocino, M. T., Real de Asúa, D., Rodrigo, S., Sastre, I., Vicente, M. P., Vivancos, L., Epelbaum, J., Hannequin, D., Campion, D., Deramecourt, V., Tzourio, C., Brice, A., Dubois, B., Williams, A., Thomas, C., Davies, C., Nash, W., Dowzell, K., Morales, A. C., Bernardo-Harrington, M., Turton, J., Lord, J., Brown, K., Vardy, E., Fisher, E., Warren, J. D., Ryan, N. S., Guerreiro, R., Uphill, J., Bass, N., Heun, R., Kölsch, H., Schürmann, B., Lacour, A., Herold, C., Powell, J., Patel, Y., Hodges, A., Becker, T., Warden, D., Wilcock, G., Clarke, R., Ben-Shlomo, Y., Hooper, N. 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Peters, O, Pijnenburg, Y, Pineda, J, Piñol-Ripoll, G, Pisanu, C, Polak, T, Popp, J, Posthuma, D, Priller, J, Puerta, R, Quenez, O, Quintela, I, Thomassen, J, Rábano, A, Rainero, I, Rajabli, F, Ramakers, I, Real, L, Reinders, M, Reitz, C, Reyes-Dumeyer, D, Ridge, P, Riedel-Heller, S, Riederer, P, Roberto, N, Rodriguez-Rodriguez, E, Rongve, A, Allende, I, Rosende-Roca, M, Royo, J, Rubino, E, Rujescu, D, Sáez, M, Sakka, P, Saltvedt, I, Sanabria, Á, Sánchez-Arjona, M, Sanchez-Garcia, F, Juan, P, Sánchez-Valle, R, Sando, S, Sarnowski, C, Satizabal, C, Scamosci, M, Scarmeas, N, Scarpini, E, Scheltens, P, Scherbaum, N, Scherer, M, Schmid, M, Schneider, A, Schott, J, Selbæk, G, Seripa, D, Serrano, M, Sha, J, Shadrin, A, Skrobot, O, Slifer, S, Snijders, G, Soininen, H, Solfrizzi, V, Solomon, A, Song, Y, Sorbi, S, Sotolongo-Grau, O, Spalletta, G, Spottke, A, Squassina, A, Stordal, E, Tartan, J, Tárraga, L, Tesí, N, Thalamuthu, A, Thomas, T, Tosto, G, Traykov, L, Tremolizzo, L, Tybjærg-Hansen, A, 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[0000-0002-7542-1139], Kornhuber, Johannes [0000-0002-8096-3987], Kosmidis, Mary H [0000-0001-8790-1220], Lage, Carmen [0000-0003-1703-121X], Launer, Lenore [0000-0002-3238-7612], Lee, Chien-Yueh [0000-0002-4304-974X], Lleó, Alberto [0000-0002-2568-5478], Lopez, Oscar [0000-0002-8546-8256], de Munain, Adolfo Lopez [0000-0002-9509-4032], Lunetta, Kathryn L [0000-0002-9268-810X], Ma, Yiyi [0000-0002-3609-8877], MacLeod, Catherine A [0000-0002-9314-7380], Marquié, Marta [0000-0002-0660-0950], Montes, Angel Martín [0000-0002-1694-786X], Mead, Simon [0000-0002-4326-1468], Medina, Miguel [0000-0002-7016-5340], Menéndez-González, Manuel [0000-0002-5218-0774], Mol, Merel [0000-0003-2533-2530], Morgan, Kevin [0000-0002-8217-2396], Nöthen, Markus M [0000-0002-8770-2464], Muchnik, Carolina [0000-0002-1542-3706], Nacmias, Benedetta [0000-0001-9338-9040], Nicolas, Gael [0000-0001-9391-7800], Nordestgaard, Børge G [0000-0002-1954-7220], Pasquier, Florence [0000-0001-9880-9788], Pastor, Pau [0000-0002-7493-8777], Peloso, Gina [0000-0002-5355-8636], Pérez-Cordón, Alba [0000-0002-6028-0791], Pérez-Tur, Jordi [0000-0002-9111-1712], Pericard, Pierre [0000-0001-8167-6448], Pineda, Juan A [0000-0002-3751-0296], Pisanu, Claudia [0000-0002-9151-4319], Posthuma, Danielle [0000-0001-7582-2365], Puerta, Raquel [0000-0002-1191-5893], Quenez, Olivier [0000-0002-8273-8505], Thomassen, Jesper Qvist [0000-0003-3484-9531], Real, Luis M [0000-0003-4932-7429], Reinders, Marcel JT [0000-0002-1148-1562], Reitz, Christiane [0000-0001-8757-7889], Riedel-Heller, Steffi [0000-0003-4321-6090], Rodriguez-Rodriguez, Eloy [0000-0001-7742-677X], Rongve, Arvid [0000-0002-0476-4134], Sáez, María Eugenia [0000-0001-9299-2534], Saltvedt, Ingvild [0000-0002-7897-9808], Juan, Pascual Sánchez [0000-0002-6081-8037], Sarnowski, Chloé [0000-0002-6090-7099], Satizabal, Claudia L [0000-0002-1115-4430], Schott, Jonathan M [0000-0003-2059-024X], Selbæk, Geir [0000-0001-6511-8219], Shadrin, Alexey A [0000-0002-7467-250X], Soininen, Hilkka [0000-0002-2785-9937], Solfrizzi, Vincenzo [0000-0002-8524-0315], Song, Yeunjoo [0000-0002-7452-3731], Sotolongo-Grau, Oscar [0000-0002-9679-0670], Spalletta, Gianfranco [0000-0002-7432-4249], Squassina, Alessio [0000-0001-7415-7607], Stordal, Eystein [0000-0002-2443-7923], Tosto, Giuseppe [0000-0001-7075-8245], Uitterlinden, Andre [0000-0002-7276-3387], Valladares, Otto [0000-0001-8055-2187], Broeckhoven, Christine Van [0000-0003-0183-7665], Vidal, Jean-Sébastien [0000-0001-6770-0720], Vogelgsang, Jonathan [0000-0001-9326-8193], Wagner, Michael [0000-0003-2589-6440], Wallon, David [0000-0002-2634-7198], Wiltfang, Jens [0000-0003-1492-5330], Woods, Bob [0000-0002-6781-651X], Yannakoulia, Mary [0000-0003-2171-7337], Zare, Habil [0000-0001-5902-6238], Zhang, Xiaoling [0000-0001-8237-1857], Farrer, Lindsay A [0000-0001-5533-4225], Psaty, Bruce M [0000-0002-7278-2190], Ghanbari, Mohsen [0000-0002-9476-7143], Raj, Towfique [0000-0002-9355-5704], Sachdev, Perminder [0000-0002-9595-3220], Mather, Karen [0000-0003-4143-8941], Ikram, M Arfan [0000-0003-0372-8585], Tsolaki, Magda [0000-0002-2072-8010], Pericak-Vance, Margaret A [0000-0001-7283-8804], Amouyel, Philippe [0000-0001-9088-234X], Williams, Julie [0000-0002-4069-0259], Frikke-Schmidt, Ruth [0000-0003-4084-5027], Seshadri, Sudha [0000-0001-6135-2622], Andreassen, Ole A [0000-0002-4461-3568], Sleegers, Kristel [0000-0002-0283-2332], van Duijn, Cornelia M [0000-0002-2374-9204], Sims, Rebecca [0000-0002-3885-1199], van der Flier, Wiesje M [0000-0001-8766-6224], Ramirez, Alfredo [0000-0003-4991-763X], Lambert, Jean-Charles [0000-0003-0829-7817], Apollo - University of Cambridge Repository, Complex Trait Genetics, Clinical sciences, Neuroprotection & Neuromodulation, Pathologic Biochemistry and Physiology, Clinical Biology, Epidemiology, Internal Medicine, Psychiatrie & Neuropsychologie, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Psychiatrie (9), UAM. Departamento de Biología Molecular, University of Helsinki, Department of Neurosciences, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Clinicum, HUS Neurocenter, Neurologian yksikkö, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institut Pasteur, Institut National de la Santé et de la Recherche Médicale (France), European Commission, LabEx DISTALZ, Pérez-Tur, Jordi, University Children’s Hospital Basel (Suiza), INSERM (Francia), Lille Métropole Communauté Urbaine, Government of France (Francia), EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Holmans, Peter A. [0000-0003-0870-9412], van der Lee, Sven J. [0000-0003-1606-8643], Costa, Marcos R. [0000-0002-4928-2163], Bis, Joshua C. [0000-0002-3409-1110], Brookes, Keeley J. [0000-0003-2427-2513], Bush, William S. [0000-0002-9729-6519], de Witte, Lot D. [0000-0002-7235-9958], del Ser, Teodoro [0000-0001-9806-7083], Fox, Nick C. [0000-0002-6660-657X], Bullido, María J. [0000-0002-6477-1117], Goate, Alison M. [0000-0002-0576-2472], Herrmann, Martin J. [0000-0001-9970-2122], Jun, Gyungah R. [0000-0002-3230-8697], Kehoe, Patrick G. [0000-0002-7542-1139], Kosmidis, Mary H. [0000-0001-8790-1220], Lunetta, Kathryn L. [0000-0002-9268-810X], MacLeod, Catherine A. [0000-0002-9314-7380], Nöthen, Markus M. [0000-0002-8770-2464], Nordestgaard, Børge G. [0000-0002-1954-7220], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis M. [0000-0003-4932-7429], Reinders, Marcel J. T. [0000-0002-1148-1562], Satizabal, Claudia L. [0000-0002-1115-4430], Schott, Jonathan M. [0000-0003-2059-024X], Shadrin, Alexey A. [0000-0002-7467-250X], Farrer, Lindsay A. [0000-0001-5533-4225], Psaty, Bruce M. [0000-0002-7278-2190], Ikram, M. Arfan [0000-0003-0372-8585], Pericak-Vance, Margaret A. [0000-0001-7283-8804], Andreassen, Ole A. [0000-0002-4461-3568], van Duijn, Cornelia M. [0000-0002-2374-9204], van der Flier, Wiesje M. [0000-0001-8766-6224], and Molecular Neuroscience and Ageing Research (MOLAR)
Subjects: tau Proteins/genetics, Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1], Neurologi, MED/03 - GENETICA MEDICA, 45/43, Medizin, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], genetics [Alzheimer Disease], Genome-Wide Association Study, Humans, tau Proteins, Alzheimer Disease, Cognitive Dysfunction, VARIANTS, pathology [Alzheimer Disease], Tau Proteins, Settore BIO/13 - Biologia Applicata, Cognitive Dysfunction/psychology, 692/699/375/365/1283, IMPUTATION, article, 1184 Genetics, developmental biology, physiology, Biología y Biomedicina / Biología, AMYLOID-BETA, Settore MED/26 - NEUROLOGIA, Neurology, psychology [Cognitive Dysfunction], Medical Genetics, Human, Neuroscience(all), 631/208/205/2138, All institutes and research themes of the Radboud University Medical Center, SDG 3 - Good Health and Well-being, ddc:570, Genetics, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, METAANALYSIS, Medicinsk genetik, MED/26 - NEUROLOGIA, Alzheimer Disease/genetics, neurology, tau Protein, NECROSIS-FACTOR-ALPHA, RISK LOCI, genetics [tau Proteins], PREDICTION MODELS, Human medicine, GENERATION, RESPONSES
Abstract: 25 páginas, 6 figuras, 2 tablas, Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele., This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not
Published: 2022

9. NMRlipids Databank makes data-driven analysis of biomembrane properties accessible for all

Author: Kiirikki, A., Antila, H., Bort, L., Buslaev, P., Favela, F., Ferreira, T., Fuchs, P., Garcia-Fandino, R., Gushchin, I., Kav, B., Kula, P., Kurki, M., Kuzmin, A., Madsen, J., Miettinen, M., Nencini, R., Piggot, T., Piñeiro, Á., Samantray, S., Suarez-Leston, F., and Ollila, O.
Published: 2023

10. Economic evidence of preventive interventions for anxiety disorders in children and adolescents – a systematic review

Author: Vartiainen, A.-K., primary, Kuvaja-Köllner, V., additional, Rantsi, M., additional, Rissanen, E., additional, Luntamo, T., additional, Kurki, M., additional, Sourander, A., additional, and Kankaanpää, E., additional
Published: 2022
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11. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Author: Rahikkala, E. (Elisa), Urpa, L. (Lea), Ghimire, B. (Bishwa), Topa, H. (Hande), Kurki, M. I. (Mitja I.), Koskela, M. (Maryna), Airavaara, M. (Mikko), Hämäläinen, E. (Eija), Pylkäs, K. (Katri), Körkkö, J. (Jarmo), Savolainen, H. (Helena), Suoranta, A. (Anu), Bertoli-Avella, A. (Aida), Rolfs, A. (Arndt), Mattila, P. (Pirkko), Daly, M. (Mark), Palotie, A. (Aarno), Pietiläinen, O. (Olli), Moilanen, J. (Jukka), Kuismin, O. (Outi), Rahikkala, E. (Elisa), Urpa, L. (Lea), Ghimire, B. (Bishwa), Topa, H. (Hande), Kurki, M. I. (Mitja I.), Koskela, M. (Maryna), Airavaara, M. (Mikko), Hämäläinen, E. (Eija), Pylkäs, K. (Katri), Körkkö, J. (Jarmo), Savolainen, H. (Helena), Suoranta, A. (Anu), Bertoli-Avella, A. (Aida), Rolfs, A. (Arndt), Mattila, P. (Pirkko), Daly, M. (Mark), Palotie, A. (Aarno), Pietiläinen, O. (Olli), Moilanen, J. (Jukka), and Kuismin, O. (Outi)
Abstract: Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause heart and brain malformation syndrome. Here we report five patients from three unrelated families with intellectual disability (ID) and a novel pathogenic SMG9 c.551 T > C p.(Val184Ala) homozygous missense variant, identified using exome sequencing. Sanger sequencing confirmed recessive segregation in each family. SMG9 c.551T > C p.(Val184Ala) is most likely an autozygous variant identical by descent. Characteristic clinical findings in patients were mild to moderate ID, intention tremor, pyramidal signs, dyspraxia, and ocular manifestations. We used RNA sequencing of patients and age- and sex-matched healthy controls to assess the effect of the variant. RNA sequencing revealed that the SMG9 c.551T > C variant did not affect the splicing or expression level of SMG9 gene products, and allele-specific expression analysis did not provide evidence that the nonsense mRNA-induced NMD was affected. Differential gene expression analysis identified prevalent upregulation of genes in patients, including the genes SMOX, OSBP2, GPX3, and ZNF155. These findings suggest that normal SMG9 function may be involved in transcriptional regulation without affecting nonsense mRNA-induced NMD. In conclusion, we demonstrate that the SMG9 c.551T > C missense variant causes a neurodevelopmental disorder and impacts gene expression. NMD components have roles beyond aberrant mRNA degradation that are crucial for neurocognitive development.
Published: 2022

12. Parent support programmes for families who are immigrants:a scoping review

Author: Hamari, L. (Lotta), Konttila, J. (Jenni), Merikukka, M. (Marko), Tuomikoski, A.-M. (Anna-Maria), Kouvonen, P. (Petra), Kurki, M. (Marjo), Hamari, L. (Lotta), Konttila, J. (Jenni), Merikukka, M. (Marko), Tuomikoski, A.-M. (Anna-Maria), Kouvonen, P. (Petra), and Kurki, M. (Marjo)
Abstract: Parental support is of paramount importance in the promotion of positive parenting, strengthening parenthood and protecting children from disadvantages due to immigration experiences. The aim was to describe what is known about parent support programmes targeted to families who are immigrants. Electronic databases and the grey literature were systematically and comprehensively searched with no time/language restrictions. JBI approach and PRISMA-ScR were used to guide the review. N = 88 articles were sourced. Interventions were targeted to improve parental practices, skills and family wellbeing, usually through group-based methods. Most interventions included components of positive parenting and family communication. Identifying the needs of the target group and cultural tailoring were reported to be highly important in gaining acceptability, promoting engagement and producing benefits. Parent support programmes for families who are immigrants potentially improve positive parental practices and families’ wellbeing. There are many applicable and effective interventions to be exploited.
Published: 2022

13. Genome-wide analysis identifies SORCS3 as a novel susceptibility locus for panic disorder in the FinnGen study

Author: Tasanko, E., Trontti, K., Naamanka, J., Novak, B., Suvisaari, J., Paunio, T., Vaht, M., Kurki, M., Misiewicz, Z., Mattheisen, M., Meier, S., Metspalu, A., Daly, M., Erhardt, A., Turck, C.W., Hartiala, J., and Hovatta, I.
Published: 2022
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14. On the limit velocity and buckling phenomena of axially moving orthotropic membranes and plates

Author: Banichuk, N., Jeronen, J., Kurki, M., Neittaanmäki, P., Saksa, T., and Tuovinen, T.
Published: 2011
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15. Inflammatory and infectious upper respiratory diseases associate with 59 genomic loci that link to type 2 inflammation genes

Author: Mehtonen J, Antti Mäkitie, Kurki M, Mark J. Daly, Tuomo Kiiskinen, Aki S. Havulinna, Hautakangas H, Tuula Palotie, Matti Pirinen, S. Ripatti, Elmo Saarentaus, Joel T. Rämö, Salmi S, Aarno Palotie, Juha Karjalainen, and Sanni Ruotsalainen
Subjects: Genetics, medicine, Inflammation, Respiratory system, medicine.symptom, Biology, Gene
Abstract: Inflammatory and infectious upper respiratory diseases (IURDs; ICD-10: J30-J39), such as diseases of sinonasal tract, pharynx and larynx, are growing health problems yet their genomic similarity is not known. We analyzed genome-wide association to eight IURDs (61,195 cases) among 260,405 FinnGen participants, meta-analyzing diseases in four groups based on an underlying genetic correlation structure. We aimed to understand which genetic loci contribute to susceptibility to IURDs in general and its subtypes. We detected 59 independent genome-wide significant (GWS) loci, distinguishing impact on sinonasal or pharyngeal diseases, or both. Fine-mapping implicated non-synonymous variants in 16 genes, including 10 linked to immune-related diseases. Phenome-wide analysis implicated asthma and atopic dermatitis at sinonasal disease loci and inflammatory bowel diseases, and other immune-mediated disorders at pharyngeal disease loci. IURDs also genetically correlated with autoimmune diseases such as rheumatoid arthritis, autoimmune hypothyroidism, and psoriasis. Finally, we associated separate gene pathways in sinonasal and pharyngeal diseases that both contribute to type 2 immunological reaction. We show shared heritability among IURDs that extends to several immune-mediated diseases with diverse mechanisms, such as type 2 high inflammation.
Published: 2021

16. Genome-Wide Association Meta-Analysis Using a Recessive Model Illuminates Genetic Architecture of Type 2 Diabetes

Author: David Torrents, Paula Cortes-Sánchez, Carsten Friis Rundsten, Niels Grarup, Sílvia Bonàs-Guarch, Joanne B. Cole, Alicia Huerta-Chagoya, Ivan Brandslund, Allan Linneberg, O’Connor Mj, Jose C. Florez, Oluf Pedersen, Kumar Veerapen, Thomas Willum Hansen, Kurki M, Josep M. Mercader, and Aaron Leong
Subjects: Minor allele frequency, Genetics, medicine, Genome-wide association study, Type 2 diabetes, Odds ratio, Allele, Biology, medicine.disease, Gene, Genetic architecture, Genetic association
Abstract: ObjectiveMost genome-wide association studies (GWAS) of complex traits are performed using models with additive allelic effects. Hundreds of loci associated with type 2 diabetes have been identified using this approach. Additive models, however, can miss loci with recessive effects, thereby leaving potentially important genes undiscovered.Research Design and MethodsWe conducted the largest GWAS meta-analysis using a recessive model for type 2 diabetes. Our discovery sample included 33,139 cases and 279,507 controls from seven European-ancestry cohorts including the UK Biobank. We then used two additional cohorts, FinnGen and a Danish cohort, for replication. For the most significant recessive signal, we conducted a phenome-wide association study across hundreds of traits to make inferences about the pathophysiology underlying the increased risk seen in homozygous carriers.ResultsWe identified 51 loci associated with type 2 diabetes, including five variants with recessive effects undetected by prior additive analyses. Two of the five had minor allele frequency less than 5% and were each associated with more than doubled risk. We replicated three of the variants, including one of the low-frequency variants, rs115018790, which had an odds ratio in homozygous carriers of 2.56 (95% CI 2.05-3.19, P=1×10−16) and a stronger effect in men than in women (interaction P=7×10−7). Colocalization analysis linked this signal to reduced expression of the nearby PELO gene, and the signal was associated with multiple diabetes-related traits, with homozygous carriers showing a 10% decrease in LDL and a 20% increase in triglycerides.ConclusionsOur results demonstrate that recessive models, when compared to GWAS using the additive approach, can identify novel loci, including large-effect variants with pathophysiological consequences relevant to type 2 diabetes.
Published: 2021

17. Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

Author: Juulia Partanen, Sylvain Sebert, Priit Palta, Mykyta Artomov, Kurki M, Mark J. Daly, Paavo Häppölä, J Kaprio, Ronkainen J, Tarja Laitinen, Aoxing Liu, Myllymäki Mn, Giulio Genovese, Taru Tukiainen, Teemu Palviainen, Myllärniemi M, Juha Karjalainen, Aarno Palotie, Wei Zhou, Masahiro Kanai, Jukka Koskela, and Andrea Ganna
Subjects: 0303 health sciences, Mutation, Cancer, Biology, Bioinformatics, medicine.disease, medicine.disease_cause, MAD1L1, 3. Good health, Telomere, 03 medical and health sciences, Idiopathic pulmonary fibrosis, 0302 clinical medicine, 030228 respiratory system, Fibrosis, Pulmonary fibrosis, medicine, Missense mutation, 030304 developmental biology
Abstract: Idiopathic Pulmonary Fibrosis (IPF) is a rare disease with poor prognosis. By contrast, cancer is common in any elderly population and a leading killer, but is now often curable. Of note, whereas IPF is driven by cellular senescence, cancer is characterized by uncontrolled cell division.Using data available from two large biobank-based studies (Finnish FinnGen study and UK biobank), we conducted a comprehensive analysis of the shared genetic background of IPF and cancer. In a population sample of 218,792 Finns with complete longitudinal health histories, we estimated the effect of individual genetic variants to the lifetime risk of IPF and cancer. We extend the analysis from IPF-GWAS to pan-cancer meta-analysis over FinnGen and UK Biobank and finally to the identification of genetic drivers of somatic chromosomal alterations.We detected six loci (SPDL1, MAD1L1, MAP2K1, RTEL1-STMN3, TERC-ACTRT3, OBFC1) associated with both IPF and cancer, all closely related to cellular division. However, each individual signal is found with opposite effects over the two diseases, termed as antagonistic pleiotropy. Several of these loci (TERC-ACTRT3, RTEL1-STMN3, OBFC1) are among the strongest inherited factors for constitutive telomere length variation and consistently indicate that shorter telomere length would increase the risk for IPF but protect from malignancy. However, a Finnish enriched SPDL1 missense variant and a common MAD1L1 intronic variant had no effect on telomere length but were shown to protect individuals from accumulation of somatic mutations.The decreased risk of cancer in SPDL1 and MAD1L1 variant carriers might result from a lower number of chromosomal alterations accumulated over time, conversely leading to fibrosis in the lung due to cellular senescence-induced inflammation. We hypothesize that the SPDL1 missense variant functions as gain-of-function mutation, leading to cellular senescence, a barrier to cancer and a driver of fibrosis in IPF. If translated to therapy, these findings might not only be able to offer relief to individuals with IPF, but also to protect from onset of cancer.
Published: 2021

18. Waterborne Outbreak of Campylobacter Enteritis after Outdoors Infantry Drill in Utti, Finland

Author: Aho, M., Kurki, M., Rautelin, H., and Kosunen, T. U.
Published: 1989

19. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Author: Natarajan, P. (Pradeep), Pampana, A. (Akhil), Graham, S. E. (Sarah E.), Ruotsalainen, S. E. (Sanni E.), Perry, J. A. (James A.), de Vries, P. S. (Paul S.), Broome, J. G. (Jai G.), Pirruccello, J. P. (James P.), Honigbere, M. C. (Michael C.), Aragam, K. (Krishna), Wolford, B. (Brooke), Brody, J. A. (Jennifer A.), Antonacci-Fulton, L. (Lucinda), Arden, M. (Moscati), Aslibekyan, S. (Stella), Assimes, T. L. (Themistocles L.), Ballantyne, C. M. (Christie M.), Bielak, L. F. (Lawrence F.), Bisl, J. C. (Joshua C.), Cade, B. E. (Brian E.), Do, R. (Ron), Doddapaneni, H. (Harsha), Emery, L. S. (Leslie S.), Hung, Y.-J. (Yi-Jen), Irvin, M. R. (Marguerite R.), Khan, A. T. (Alyna T.), Lange, L. (Leslie), Lee, J. (Jiwon), Lemaitre, R. N. (Rozenn N.), Martin, L. W. (Lisa W.), Metcalf, G. (Ginger), Montasser, M. E. (May E.), Moon, J.-Y. (Jee-Young), Muzny, D. (Donna), Connell, J. R. (Jeffrey R. O.), Palmer, N. D. (Nicholette D.), Peralta, J. M. (Juan M.), Peyser, P. A. (Patricia A.), Stilp, A. M. (Adrienne M.), Tsai, M. (Michael), Wang, F. F. (Fei Fei), Weeks, D. E. (Daniel E.), Yanek, L. R. (Lisa R.), Wilson, J. G. (James G.), Abecasis, G. (Goncalo), Arnett, D. K. (Donna K.), Becker, L. C. (Lewis C.), Blangercy, J. (John), Boerwinkle, E. (Eric), Bowden, D. W. (Donald W.), Chang, Y.-C. (Yi-Cheng), Chen, Y. I. (Yii-Der, I), Choi, W. J. (Won Jung), Correa, A. (Adolfo), Curran, J. E. (Joanne E.), Daly, M. J. (Mark J.), DutcherE, S. K. (Susan K.), Ellinor, P. T. (Patrick T.), Fornage, M. (Myriam), Freedman, B. I. (Barry, I), Gabriel, S. (Stacey), Germer, S. (Soren), Gibbs, R. A. (Richard A.), He, J. (Jiang), Hveem, K. (Kristian), Jarvik, G. P. (Gail P.), Kaplan, R. C. (Robert C.), Kardia, S. L. (Sharon L. R.), Kennyn, E. (Eimear), Kim, R. W. (Ryan W.), Kooperberg, C. (Charles), Laurie, C. C. (Cathy C.), Lee, S. (Seonwook), Lloyd-Jones, D. M. (Don M.), Loos, R. J. (Ruth J. F.), Lubitz, S. A. (Steven A.), Mathias, R. A. (Rasika A.), Martinez, K. A. (Karine A. Viaud), McGarvey, S. T. (Stephen T.), Mitche, B. D. (Braxton D.), Nickerson, D. A. (Deborah A.), North, K. E. (Kari E.), Palotie, A. (Aarno), Park, C. J. (Cheol Joo), Psat, B. M. (Bruce M. Y.), Rao, D. C. (D. C.), Redline, S. (Susan), Reiner, A. P. (Alexander P.), Seo, D. (Daekwan), Seo, J.-S. (Jeong-Sun), Smith, A. V. (Albert, V), Tracy, R. P. (Russell P.), Kathiresan, S. (Sekar), Cupples, L. A. (L. Adrienne), Rotten, J. I. (Jerome, I), Morrison, A. C. (Alanna C.), Rich, S. S. (Stephen S.), Ripatti, S. (Samuli), Wilier, C. (Cristen), Peloso, G. M. (Gina M.), Vasan, R. S. (Ramachandran S.), Abe, N. (Namiko), Albert, C. (Christine), Almasy, L. (Laura), Alonso, A. (Alvaro), Ament, S. (Seth), Anderson, P. (Peter), Applebaum-Bowden, D. (Deborah), Arking, D. (Dan), Ashley-Koch, A. (Allison), Auer, P. (Paul), Avramopoulos, D. (Dimitrios), Barnard, J. (John), Barnes, K. (Kathleen), Barr, R. G. (R. Graham), Barron-Casella, E. (Emily), Beaty, T. (Terri), Becker, D. (Diane), Beer, R. (Rebecca), Begum, F. (Ferdouse), Beitelshees, A. (Amber), Benjamin, E. (Emelia), Bezerra, M. (Marcos), Bielak, L. (Larry), Blackwel, T. (Thomas), Bowler, R. (Russell), Broecke, U. (Ulrich), Bunting, K. (Karen), Burchard, E. (Esteban), Buth, E. (Erin), Cardwel, J. (Jonathan), Carty, C. (Cara), Casaburi, R. (Richard), Casella, J. (James), Chaffin, M. (Mark), Chang, C. (Christy), Chasman, D. (Daniel), Chavan, S. (Sameer), Chen, B.-J. (Bo-Juen), Chen, W.-M. (Wei-Min), Chol, M. (Michael), Choi, S. H. (Seung Hoan), Chuang, L.-M. (Lee-Ming), Chung, M. (Mina), Conomos, M. P. (Matthew P.), Cornell, E. (Elaine), Crapo, J. (James), Curtis, J. (Jeffrey), Custer, B. (Brian), Damcott, C. (Coleen), Darbar, D. (Dawood), Das, S. (Sayantan), David, S. (Sean), Davis, C. (Colleen), Daya, M. (Michelle), de Andrade, M. (Mariza), DeBaunuo, M. (Michael), Duan, Q. (Qing), Devine, R. D. (Ranjan Deka Dawn DeMeo Scott), Duggirala, Q. R. (Qing Ravi), Durda, J. P. (Jon Peter), Dutcher, S. (Susan), Eaton, C. (Charles), Ekunwe, L. (Lynette), Farber, C. (Charles), Farnaml, L. (Leanna), Fingerlin, T. (Tasha), Flickinger, M. (Matthew), Franceschini, N. (Nora), Fu, M. (Mao), Fullerton, S. M. (Stephanie M.), Fulton, L. (Lucinda), Gan, W. (Weiniu), Gao, Y. (Yan), Gass, M. (Margery), Ge, B. (Bruce), Geng, X. P. (Xiaoqi Priscilla), Gignoux, C. (Chris), Gladwin, M. (Mark), Glahn, D. (David), Gogarten, S. (Stephanie), Gong, D.-W. (Da-Wei), Goring, H. (Harald), Gu, C. C. (C. Charles), Guan, Y. (Yue), Guo, X. (Xiuqing), Haessler, J. (Jeff), Hall, M. (Michael), Harris, D. (Daniel), Hawle, N. Y. (Nicola Y.), Heavner, B. (Ben), Heckbert, S. (Susan), Hernandez, R. (Ryan), Herrington, D. (David), Hersh, C. (Craig), Hidalgo, B. (Bertha), Hixson, J. (James), Hokanson, J. (John), Hong, E. (Elliott), Hoth, K. (Karin), Hsiung, C. A. (Chao Agnes), Huston, H. (Haley), Hwu, C. M. (Chii Min), Jackson, R. (Rebecca), Jain, D. (Deepti), Jaquish, C. (Cashell), Jhun, M. A. (Min A.), Johnsen, J. (Jill), Johnson, A. (Andrew), Johnson, C. (Craig), Johnston, R. (Rich), Jones, K. (Kimberly), Kang, H. M. (Hyun Min), Kaufman, L. (Laura), Kell, S. Y. (Shannon Y.), Kessler, M. (Michael), Kinney, G. (Greg), Konkle, B. (Barbara), Kramer, H. (Holly), Krauter, S. (Stephanie), Lange, C. (Christoph), Lange, E. (Ethan), Laurie, C. (Cecelia), LeBoff, M. (Meryl), Lee, S. S. (Seunggeun Shawn), Lee, W.-J. (Wen-Jane), LeFaive, J. (Jonathon), Levine, D. (David), Levy, D. (Dan), Lewis, J. (Joshua), Li, Y. (Yun), Lin, H. (Honghuang), Lin, K. H. (Keng Han), Lin, X. (Xihong), Liu, S. (Simin), Liu, Y. (Yongmei), Lunetta, K. (Kathryn), Luo, J. (James), Mahaney, M. (Michael), Make, B. (Barry), Manichaikul, A. (Ani), Mansonl, J. (JoAnn), Margolin, L. (Lauren), Mathai, S. (Susan), McArdle, P. (Patrick), Mcdonald, M.-L. (Merry-Lynn), McFarland, S. (Sean), McHugh, C. (Caitlin), Mei, H. (Hao), Meyers, D. A. (Deborah A.), Mikulla, J. (Julie), Min, N. (Nancy), Minear, M. (Mollie), Minster, R. L. (Ryan L.), Musani, S. (Solomon), Mwasongwe, S. (Stanford), Mychaleckyj, J. C. (Josyf C.), Nadkarni, G. (Girish), Naik, R. (Rakhi), Naseri, T. (Take), Nekhai, S. (Sergei), Nelson, S. C. (Sarah C.), Nickerson, D. (Deborah), Connell, J. O. (Jeff O.), Connor, T. O. (Tim O.), Ochs-Balcom, H. (Heather), Pankow, J. (James), Papanicolaou, G. (George), Parkerl, M. (Margaret), Parsa, A. (Afshin), Penchey, S. (Sara), Perez, M. (Marco), Peters, U. (Ulrike), Phillips, L. S. (Lawrence S.), Phillips, S. (Sam), Pollin, T. (Toni), Post, W. (Wendy), Becker, J. P. (Julia Powers), Boorgula, M. P. (Meher Preethi), Preuss, M. (Michael), Prokopenko, D. (Dmitry), Qasba, P. (Pankaj), Qiao, D. (Dandi), Rafaels, N. (Nicholas), Raffield, L. (Laura), Rasmussen-Torvik, L. (Laura), Ratan, A. (Aakrosh), Reed, R. (Robert), Reganl, E. (Elizabeth), Reupena, M. S. (Muagututi Sefuiva), Rice, K. (Ken), Roden, D. (Dan), Roselli, C. (Carolina), Ruczinski, I. (Ingo), Russel, P. (Pamela), Ruuska, S. (Sarah), Ryan, K. (Kathleen), Sabino, E. C. (Ester Cerdeira), Sakornsakolpatl, P. (Phuwanat), Salzberg, S. (Steven), Sandow, K. (Kevin), Sankaran, V. G. (Vijay G.), Scheller, C. (Christopher), Schmidt, E. (Ellen), Schwander, K. (Karen), Schwartz, D. (David), Sciurba, F. (Frank), Seidman, C. (Christine), Seidman, J. (Jonathan), Sheehan, V. (Vivien), Shetty, A. (Amol), Shetty, A. (Aniket), Sheu, W. H. (Wayne Hui-Heng), Shoemaker, M. B. (M. Benjamin), Silver, B. (Brian), Silvermanl, E. (Edwin), Smith, J. (Jennifer), Smith, J. (Josh), Smith, N. (Nicholas), Smith, T. (Tanja), Smoller, S. (Sylvia), Snively, B. (Beverly), Soferlm, T. (Tamar), Streeten, E. (Elizabeth), Su, J. L. (Jessica Lasky), Sung, Y. J. (Yun Ju), Sylvia, J. (Jody), Sztalryd, C. (Carole), Taliun, D. (Daniel), Tang, H. (Hua), Taub, M. (Margaret), Taylor, K. D. (Kent D.), Taylor, S. (Simeon), Telen, M. (Marilyn), Thornton, T. A. (Timothy A.), Tinker, L. (Lesley), Tirschwel, D. (David), Tiwari, H. (Hemant), Vaidya, D. (Dhananjay), VandeHaar, P. (Peter), Vrieze, S. (Scott), Walker, T. (Tarik), Wallace, R. (Robert), Waits, A. (Avram), Wan, E. (Emily), Wang, H. (Heming), Watson, K. (Karol), Weir, B. (Bruce), Weiss, S. (Scott), Weng, L.-C. (Lu-Chen), Williams, K. (Kayleen), Williams, L. K. (L. Keoki), Wilson, C. (Carla), Wong, Q. (Quenna), Xu, H. (Huichun), Yang, I. (Ivana), Yang, R. (Rongze), Zaghlou, N. (Norann), Zekavat, M. (Maryam), Zhang, Y. (Yingze), Zhao, S. X. (Snow Xueyan), Zhao, W. (Wei), Zni, D. (Degui), Zhou, X. (Xiang), Zhu, X. (Xiaofeng), Zody, M. (Michael), Zoellner, S. (Sebastian), Daly, M. (Mark), Jacob, H. (Howard), Matakidou, A. (Athena), Runz, H. (Heiko), John, S. (Sally), Plenge, R. (Robert), McCarthy, M. (Mark), Hunkapiller, J. (Julie), Ehm, M. (Meg), Waterworth, D. (Dawn), Fox, C. (Caroline), Malarstig, A. (Anders), Klinger, K. (Kathy), Call, K. (Kathy), Mkel, T. (Tomi), Kaprio, J. (Jaakko), Virolainen, P. (Petri), Pulkki, K. (Kari), Kilpi, T. (Terhi), Perola, M. (Markus), Partanen, J. (Jukka), Pitkranta, A. (Anne), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Savinainen, K. (Kimmo), Kosma, V.-M. (Veli-Matti), Kujala, U. (Urho), Tuovila, O. (Outi), Hendolin, M. (Minna), Pakkanen, R. (Raimo), Waring, J. (Jeff), Riley-Gillis, B. (Bridget), Liu, J. (Jimmy), Biswas, S. (Shameek), Diogo, D. (Dorothee), Marshall, C. (Catherine), Hu, X. (Xinli), Gossel, M. (Matthias), Schleutker, J. (Johanna), Arvas, M. (Mikko), Hinttala, R. (Reetta), Kettunen, J. (Johannes), Laaksonen, R. (Reijo), Mannermaa, A. (Arto), Paloneva, J. (Juha), Soininen, H. (Hilkka), Julkunen, V. (Valtteri), Remes, A. (Anne), Klviinen, R. (Reetta), Hiltunen, M. (Mikko), Peltola, J. (Jukka), Tienari, P. (Pentti), Rinne, J. (Juha), Ziemann, A. (Adam), Waring, J. (Jeffrey), Esmaeeli, S. (Sahar), Smaoui, N. (Nizar), Lehtonen, A. (Anne), Eaton, S. (Susan), Landenper, S. (Sanni), Michon, J. (John), Kerchner, G. (Geoff), Bowers, N. (Natalie), Teng, E. (Edmond), Eicher, J. (John), Mehta, V. (Vinay), Gormle, P. Y. (Padhraig Y.), Linden, K. (Kari), Whelan, C. (Christopher), Xu, F. (Fanli), Pulford, D. (David), Frkkil, M. (Martti), Pikkarainen, S. (Sampsa), Jussila, A. (Airi), Blomster, T. (Timo), Kiviniemi, M. (Mikko), Voutilainen, M. (Markku), Georgantas, B. (Bob), Heap, G. (Graham), Rahimov, F. (Fedik), Usiskin, K. (Keith), Maranville, J. (Joseph), Lu, T. (Tim), Oh, D. (Danny), Kalpala, K. (Kirsi), Miller, M. (Melissa), McCarthy, L. (Linda), Eklund, K. (Kari), Palomki, A. (Antti), Isomki, P. (Pia), Piri, L. (Laura), Kaipiainen-Seppnen, O. (Oili), Lertratanaku, A. (Apinya), Bing, D. C. (David Close Marla Hochfeld Nan), Gordillo, J. E. (Jorge Esparza), Mars, N. (Nina), Laitinen, T. (Tarja), Pelkonen, M. (Margit), Kauppi, P. (Paula), Kankaanranta, H. (Hannu), Harju, T. (Terttu), Greenberg, S. (Steven), Chen, H. (Hubert), Betts, J. (Jo), Ghosh, S. (Soumitra), Salomaa, V. (Veikko), Niiranen, T. (Teemu), Juonala, M. (Markus), Metsrinne, K. (Kaj), Khnen, M. (Mika), Junttila, J. (Juhani), Laakso, M. (Markku), Pihlajamki, J. (Jussi), Sinisalo, J. (Juha), Taskinen, M.-R. (Marja-Riitta), Tuomi, T. (Tiinamaija), Laukkanen, J. (Jari), Challis, B. (Ben), Peterson, A. (Andrew), Chu, A. (Audrey), Parkkinen, J. (Jaakko), Muslin, A. (Anthony), Joensuu, H. (Heikki), Meretoja, T. (Tuomo), Aaltonen, L. (Lauri), Auranen, A. (Annika), Karihtala, P. (Peeter), Kauppila, S. (Saila), Auvinen, P. (Pivi), Elenius, K. (Klaus), Popovic, R. (Relja), Schutzman, J. (Jennifer), Loboda, A. (Andrey), Chhibber, A. (Aparna), Lehtonen, H. (Heli), McDonough, S. (Stefan), Crohns, M. (Marika), Kulkarni, D. (Diptee), Kaarniranta, K. (Kai), Turunen, J. (Joni), Ollila, T. (Terhi), Seitsonen, S. (Sanna), Uusitalo, H. (Hannu), Aaltonen, V. (Vesa), Uusitalo-Jrvinen, H. (Hannele), Luodonp, M. (Marja), Hautala, N. (Nina), Strauss, E. (Erich), Chen, H. (Hao), Podgornaia, A. (Anna), Hoffman, J. (Joshua), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Hannula-Jouppi, K. (Katariina), Salmi, T. (Teea), Peltonen, S. (Sirkku), Koulu, L. (Leena), Harvima, I. (Ilkka), Wu, Y. (Ying), Choy, D. (David), Jalanko, A. (Anu), Kajanne, R. (Risto), Lyhs, U. (Ulrike), Kaunisto, M. (Mari), Davis, J. W. (Justin Wade), Quarless, D. (Danjuma), Petrovski, S. (Slav), Chen, C.-Y. (Chia-Yen), Bronson, P. (Paola), Yang, R. (Robert), Chang, D. (Diana), Bhangale, T. (Tushar), Holzinger, E. (Emily), Wang, X. (Xulong), Chen, X. (Xing), Auro, K. (Kirsi), Wang, C. (Clarence), Xu, E. (Ethan), Auge, F. (Franck), Chatelain, C. (Clement), Kurki, M. (Mitja), Karjalainen, J. (Juha), Havulinna, A. (Aki), Palin, K. (Kimmo), Palta, P. (Priit), Parolo, P. D. (Pietro Della Briotta), Zhou, W. (Wei), Lemmel, S. (Susanna), Rivas, M. (Manuel), Harju, J. (Jarmo), Lehisto, A. (Arto), Ganna, A. (Andrea), Llorens, V. (Vincent), Karlsson, A. (Antti), Kristiansson, K. (Kati), Hyvrinen, K. (Kati), Ritari, J. (Jarmo), Wahlfors, T. (Tiina), Koskinen, M. (Miika), Pylkäs, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Mantere, T. (Tuomo), Kangasniemi, E. (Eeva), Heikkinen, S. (Sami), Laakkonen, E. (Eija), Kononen, J. (Juha), Loukola, A. (Anu), Laiho, P. (Pivi), Sistonen, T. (Tuuli), Kaiharju, E. (Essi), Laukkanen, M. (Markku), Jrvensivu, E. (Elina), Lhteenmki, S. (Sini), Mnnikk, L. (Lotta), Wong, R. (Regis), Mattsson, H. (Hannele), Hiekkalinna, T. (Tero), Jimnez, M. G. (Manuel Gonzlez), Donner, K. (Kati), Prn, K. (KaIle), Nunez-Fontarnau, J. (Javier), Kilpelinen, E. (Elina), Sipi, T. P. (Timo P.), Brein, G. (Georg), Dada, A. (Alexander), Awaisa, G. (Ghazal), Shcherban, A. (Anastasia), Sipil, T. (Tuomas), Laivuori, H. (Hannele), Kiiskinen, T. (Tuomo), Siirtola, H. (Harri), Tabuenca, J. G. (Javier Gracia), Kallio, L. (Lila), Soini, S. (Sirpa), Pitknen, K. (Kimmo), and Kuopio, T. (Teijo)
Subjects: Cardiovascular genetics, Genome-wide association studies
Abstract: Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids.
Published: 2021

20. Translation, Validity, and Reliability of Mental Health Literacy and Help-Seeking Behavior Questionnaires in Indonesia.

Author: Kaligis, F, Ismail, RI, Wiguna, T, Prasetyo, S, Indriatmi, W, Gunardi, H, Pandia, V, Minayati, K, Magdalena, CC, Nurraga, GW, Anggia, MF, Pamungkas, SR, Tran, TD, Kurki, M, Gilbert, S, Sourander, A, Kaligis, F, Ismail, RI, Wiguna, T, Prasetyo, S, Indriatmi, W, Gunardi, H, Pandia, V, Minayati, K, Magdalena, CC, Nurraga, GW, Anggia, MF, Pamungkas, SR, Tran, TD, Kurki, M, Gilbert, S, and Sourander, A
Abstract: Background and Aim: Mental health is an integral part of adolescent wellbeing. However, only few adolescents understand the importance of mental health and are aware of the right time to seek help. Lack of knowledge and stigma may impede help-seeking behavior. To assess these aspects, three questionnaires have been developed in the English language. This study aims to assess the validity and reliability of an Indonesian version of the Mental Health Literacy and Help-Seeking Behavior set of questionnaires among adolescents in Indonesia. Methods: This is a cross-sectional study that used The Mental Health Literacy and Help-Seeking Behavior set of questionnaires developed by Kutcher and Wei. The set consists of three questionnaires: the Mental Health Knowledge, Attitude Toward Mental Health, and Help-Seeking Behavior questionnaire. The study was conducted between October 2020 and January 2021 with 68 first-year medical students at the University of Indonesia, who represented adolescents in a transitional phase. The questionnaires were translated into the Indonesian language by a bilingual psychiatrist and reviewed by 10 expert psychiatrists to determine content validity [Item-Level Content Validity Index (I-CVI) and Scale-Level Content Validity Index (S-CVI)]. Cronbach's alpha values were used to assess internal consistency (reliability). Results: The content validity test produced positive results with an I-CVI scores of 0.7-1.0 and S-CVI scores of 0.87, 0.90, and 0.99 for the knowledge, attitude, and help-seeking behavior questionnaires, respectively. For the reliability test, Cronbach's alpha values were 0.780 for the attitude questionnaire and 0.852 for the help-seeking behavior questionnaire, while the value for the knowledge questionnaire was 0.521. Conclusion: The ability to properly measure mental health through the availability of accessible, valid, and understandable tools plays an important role in addressing mental health issues among adolescents. In the cu
Published: 2021

21. Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants

Author: Saarentaus, E. C. (Elmo Christian), Havulinna, A. S. (Aki Samuli), Mars, N. (Nina), Ahola-Olli, A. (Ari), Kiiskinen, T. T. (Tuomo Tapio Johannes), Partanen, J. (Juulia), Ruotsalainen, S. (Sanni), Kurki, M. (Mitja), Urpa, L. M. (Lea Martta), Chen, L. (Lei), Perola, M. (Markus), Salomaa, V. (Veikko), Veijola, J. (Juha), Männikkö, M. (Minna), Hall, I. M. (Ira M.), Pietiläinen, O. (Olli), Kaprio, J. (Jaakko), Ripatti, S. (Samuli), Daly, M. (Mark), Palotie, A. (Aarno), Saarentaus, E. C. (Elmo Christian), Havulinna, A. S. (Aki Samuli), Mars, N. (Nina), Ahola-Olli, A. (Ari), Kiiskinen, T. T. (Tuomo Tapio Johannes), Partanen, J. (Juulia), Ruotsalainen, S. (Sanni), Kurki, M. (Mitja), Urpa, L. M. (Lea Martta), Chen, L. (Lei), Perola, M. (Markus), Salomaa, V. (Veikko), Veijola, J. (Juha), Männikkö, M. (Minna), Hall, I. M. (Ira M.), Pietiläinen, O. (Olli), Kaprio, J. (Jaakko), Ripatti, S. (Samuli), Daly, M. (Mark), and Palotie, A. (Aarno)
Abstract: Copy number variants (CNVs) are associated with syndromic and severe neurological and psychiatric disorders (SNPDs), such as intellectual disability, epilepsy, schizophrenia, and bipolar disorder. Although considered high-impact, CNVs are also observed in the general population. This presents a diagnostic challenge in evaluating their clinical significance. To estimate the phenotypic differences between CNV carriers and non-carriers regarding general health and well-being, we compared the impact of SNPD-associated CNVs on health, cognition, and socioeconomic phenotypes to the impact of three genome-wide polygenic risk score (PRS) in two Finnish cohorts (FINRISK, n = 23,053 and NFBC1966, n = 4895). The focus was on CNV carriers and PRS extremes who do not have an SNPD diagnosis. We identified high-risk CNVs (DECIPHER CNVs, risk gene deletions, or large [>1 Mb] CNVs) in 744 study participants (2.66%), 36 (4.8%) of whom had a diagnosed SNPD. In the remaining 708 unaffected carriers, we observed lower educational attainment (EA; OR = 0.77 [95% CI 0.66–0.89]) and lower household income (OR = 0.77 [0.66–0.89]). Income-associated CNVs also lowered household income (OR = 0.50 [0.38–0.66]), and CNVs with medical consequences lowered subjective health (OR = 0.48 [0.32–0.72]). The impact of PRSs was broader. At the lowest extreme of PRS for EA, we observed lower EA (OR = 0.31 [0.26–0.37]), lower-income (OR = 0.66 [0.57–0.77]), lower subjective health (OR = 0.72 [0.61–0.83]), and increased mortality (Cox’s HR = 1.55 [1.21–1.98]). PRS for intelligence had a similar impact, whereas PRS for schizophrenia did not affect these traits. We conclude that the majority of working-age individuals carrying high-risk CNVs without SNPD diagnosis have a modest impact on morbidity and mortality, as well as the limited impact on income and educational attainment, compared to individuals at the extreme end of common genetic variation. Our findings highlight that the contribution of trad
Published: 2021

22. Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

Author: Antti Mäkitie, Tuomo Kiiskinen, Juha Karjalainen, Samuli Ripatti, A. Metspalu, Tõnu Esko, Lili Milani, Kurki M, Joel T. Rämö, Masahiro Kanai, Eija Hämäläinen, Reedik Mägi, Paavo Häppölä, Hautakangas H, Matti Pirinen, Kristi Krebs, Mark J. Daly, Aki S. Havulinna, Priit Palta, A. Palotie, and Konrad J. Karczewski
Subjects: Genetics, 0303 health sciences, education.field_of_study, Population, Genome-wide association study, Locus (genetics), Biology, Heritability, medicine.disease, Biobank, Genome, 03 medical and health sciences, 0302 clinical medicine, medicine, Otosclerosis, Family history, 030223 otorhinolaryngology, education, 030304 developmental biology
Abstract: Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood and treatment options are limited. A previous genome-wide association study (GWAS) identified a single association locus in an intronic region of RELN. Here, we report a meta-analysis of GWAS studies of otosclerosis in three population-based biobanks comprising 2,413 cases and 762,382 controls. We identify 15 novel risk loci (p < 5*10−8) and replicate the regions of RELN and two previously reported candidate genes (TGFB1 and MEPE). Implicated genes in many loci are essential for bone remodelling or mineralization. Otosclerosis is genetically correlated with height and fracture risk, and the association loci overlap with severe skeletal disorders. Our results highlight TGFβ1 signalling for follow-up mechanistic studies.
Published: 2020

23. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Author: BIS, J. C., JIAN, X., KUNKLE, B. W., CHEN, Y., HAMILTON-NELSON, K. L., BUSH, W. S., SALERNO, W. J., LANCOUR, D., MA, Y., RENTON, A. E., MARCORA, E., FARRELL, J. J., ZHAO, Y., QU, L., AHMAD, S., AMIN, N., AMOUYEL, P., BEECHAM, G. W., BELOW, J. E., CAMPION, D., CANTWELL, L., CHARBONNIER, C., CHUNG, J., CRANE, P. K., CRUCHAGA, C., CUPPLES, L. A., DARTIGUES, Jean-Francois, DEBETTE, Stéphanie, DELEUZE, J. F., FULTON, L., GABRIEL, S. B., GENIN, E., GIBBS, R. A., GOATE, A., GRENIER-BOLEY, B., GUPTA, N., HAINES, J. L., HAVULINNA, A. S., HELISALMI, S., HILTUNEN, M., HOWRIGAN, D. P., IKRAM, M. A., KAPRIO, J., KONRAD, J., KUZMA, A., LANDER, E. S., LATHROP, M., LEHTIMAKI, T., LIN, H., MATTILA, K., MAYEUX, R., MUZNY, D. M., NASSER, W., NEALE, B., NHO, K., NICOLAS, G., PATEL, D., PERICAK-VANCE, M. A., PEROLA, M., PSATY, B. M., QUENEZ, O., RAJABLI, F., REDON, R., REITZ, C., REMES, A. M., SALOMAA, V., SARNOWSKI, C., SCHMIDT, H., SCHMIDT, M., SCHMIDT, R., SOININEN, H., THORNTON, T. A., TOSTO, G., TZOURIO, Christophe, VAN DER LEE, S. J., VAN DUIJN, C. M., VALLADARES, O., VARDARAJAN, B., WANG, L. S., WANG, W., WIJSMAN, E., WILSON, R. K., WITTEN, D., WORLEY, K. C., ZHANG, X., BELLENGUEZ, C., LAMBERT, J. C., KURKI, M. I., PALOTIE, A., DALY, M., BOERWINKLE, E., LUNETTA, K. L., DESTEFANO, A. L., DUPUIS, J., MARTIN, E. R., SCHELLENBERG, G. D., SESHADRI, S., NAJ, A. C., FORNAGE, M., and FARRER, L. A.
Subjects: 0301 basic medicine, Computational biology, Biology, SEPIA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Immune system, VINTAGE, Transcriptional regulation, HEALTHY, Molecular Biology, 030217 neurology & neurosurgery, Exome sequencing
Abstract: Following publication, the authors noticed that ‘Laura Cantwell’, ‘Otto Valladares’, and ‘Li-San Wang’ were inadvertently omitted from the author list. These authors have now been added to the author list in 21st, 77th, and 79th position, respectively. This has been corrected in both the PDF and HTML versions of the article.
Published: 2020

24. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Author: Bryois, J. Skene, N.G. Hansen, T.F. Kogelman, L.J.A. Watson, H.J. Liu, Z. Adan, R. Alfredsson, L. Ando, T. Andreassen, O. Baker, J. Bergen, A. Berrettini, W. Birgegård, A. Boden, J. Boehm, I. Boni, C. Boraska Perica, V. Brandt, H. Breen, G. Bryois, J. Buehren, K. Bulik, C. Burghardt, R. Cassina, M. Cichon, S. Clementi, M. Coleman, J. Cone, R. Courtet, P. Crawford, S. Crow, S. Crowley, J. Danner, U. Davis, O. de Zwaan, M. Dedoussis, G. Degortes, D. DeSocio, J. Dick, D. Dikeos, D. Dina, C. Dmitrzak-Weglarz, M. Docampo Martinez, E. Duncan, L. Egberts, K. Ehrlich, S. Escaramís, G. Esko, T. Estivill, X. Farmer, A. Favaro, A. Fernández-Aranda, F. Fichter, M. Fischer, K. Föcker, M. Foretova, L. Forstner, A. Forzan, M. Franklin, C. Gallinger, S. Gaspar, H. Giegling, I. Giuranna, J. Giusti-Rodríquez, P. Gonidakis, F. Gordon, S. Gorwood, P. Gratacos Mayora, M. Grove, J. Guillaume, S. Guo, Y. Hakonarson, H. Halmi, K. Hanscombe, K. Hatzikotoulas, K. Hauser, J. Hebebrand, J. Helder, S. Henders, A. Herms, S. Herpertz-Dahlmann, B. Herzog, W. Hinney, A. Horwood, L.J. Hübel, C. Huckins, L. Hudson, J. Imgart, H. Inoko, H. Janout, V. Jiménez-Murcia, S. Johnson, C. Jordan, J. Julià, A. Juréus, A. Kalsi, G. Kaminská, D. Kaplan, A. Kaprio, J. Karhunen, L. Karwautz, A. Kas, M. Kaye, W. Kennedy, J. Kennedy, M. Keski-Rahkonen, A. Kiezebrink, K. Kim, Y.-R. Kirk, K. Klareskog, L. Klump, K. Knudsen, G.P. La Via, M. Landén, M. Larsen, J. Le Hellard, S. Leppä, V. Levitan, R. Li, D. Lichtenstein, P. Lilenfeld, L. Lin, B.D. Lissowska, J. Luykx, J. Magistretti, P. Maj, M. Mannik, K. Marsal, S. Marshall, C. Martin, N. Mattheisen, M. Mattingsdal, M. McDevitt, S. McGuffin, P. Medland, S. Metspalu, A. Meulenbelt, I. Micali, N. Mitchell, J. Mitchell, K. Monteleone, P. Monteleone, A.M. Montgomery, G. Mortensen, P.B. Munn-Chernoff, M. Nacmias, B. Navratilova, M. Norring, C. Ntalla, I. Olsen, C. Ophoff, R. O’Toole, J. Padyukov, L. Palotie, A. Pantel, J. Papezova, H. Parker, R. Pearson, J. Pedersen, N. Petersen, L. Pinto, D. Purves, K. Rabionet, R. Raevuori, A. Ramoz, N. Reichborn-Kjennerud, T. Ricca, V. Ripatti, S. Ripke, S. Ritschel, F. Roberts, M. Rotondo, A. Rujescu, D. Rybakowski, F. Santonastaso, P. Scherag, A. Scherer, S. Schmidt, U. Schork, N. Schosser, A. Seitz, J. Slachtova, L. Slagboom, P.E. Slof-Op ‘t Landt, M. Slopien, A. Sorbi, S. Strober, M. Stuber, G. Sullivan, P. Świątkowska, B. Szatkiewicz, J. Tachmazidou, I. Tenconi, E. Thornton, L. Tortorella, A. Tozzi, F. Treasure, J. Tsitsika, A. Tyszkiewicz-Nwafor, M. Tziouvas, K. van Elburg, A. van Furth, E. Wade, T. Wagner, G. Walton, E. Watson, H. Werge, T. Whiteman, D. Widen, E. Woodside, D.B. Yao, S. Yilmaz, Z. Zeggini, E. Zerwas, S. Zipfel, S. Anttila, V. Artto, V. Belin, A.C. de Boer, I. Boomsma, D.I. Børte, S. Chasman, D.I. Cherkas, L. Christensen, A.F. Cormand, B. Cuenca-Leon, E. Davey-Smith, G. Dichgans, M. van Duijn, C. Esko, T. Esserlind, A.L. Ferrari, M. Frants, R.R. Freilinger, T. Furlotte, N. Gormley, P. Griffiths, L. Hamalainen, E. Hiekkala, M. Ikram, M.A. Ingason, A. Järvelin, M.-R. Kajanne, R. Kallela, M. Kaprio, J. Kaunisto, M. Kogelman, L.J.A. Kubisch, C. Kurki, M. Kurth, T. Launer, L. Lehtimaki, T. Lessel, D. Ligthart, L. Litterman, N. Maagdenberg, A. Macaya, A. Malik, R. Mangino, M. McMahon, G. Muller-Myhsok, B. Neale, B.M. Northover, C. Nyholt, D.R. Olesen, J. Palotie, A. Palta, P. Pedersen, L. Pedersen, N. Posthuma, D. Pozo-Rosich, P. Pressman, A. Raitakari, O. Schürks, M. Sintas, C. Stefansson, K. Stefansson, H. Steinberg, S. Strachan, D. Terwindt, G. Vila-Pueyo, M. Wessman, M. Winsvold, B.S. Zhao, H. Zwart, J.A. Agee, M. Alipanahi, B. Auton, A. Bell, R. Bryc, K. Elson, S. Fontanillas, P. Furlotte, N. Heilbron, K. Hinds, D. Huber, K. Kleinman, A. Litterman, N. McCreight, J. McIntyre, M. Mountain, J. Noblin, E. Northover, C. Pitts, S. Sathirapongsasuti, J. Sazonova, O. Shelton, J. Shringarpure, S. Tian, C. Tung, J. Vacic, V. Wilson, C. Brueggeman, L. Bulik, C.M. Arenas, E. Hjerling-Leffler, J. Sullivan, P.F. International Headache Genetics Consortium Eating Disorders Working Group of the Psychiatric Genomics Consortium
Abstract: Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2020

25. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Author: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J., EuroEPINOMICS-RES Consortium, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Department of Medical and Clinical Genetics, Medicum, HUS Helsinki and Uusimaa Hospital District, and Wellcome Trust
Subjects: Candidate gene, lcsh:QH426-470, Developmental Disabilities, Mutation, Missense, Sequence Homology, lcsh:Medicine, ORTHOLOGS, Computational biology, Conservation, Gene family, Missense variants, Neurodevelopmental disorders, Paralogs, Biology, 03 medical and health sciences, MULTIPLE SEQUENCE ALIGNMENT, PHYLOGENETIC TREES, Genetics, Missense mutation, Ensembl, Molecular Biology, Gene, Genetics (clinical), Phylogeny, 030304 developmental biology, 0303 health sciences, 0604 Genetics, Phylogenetic tree, Research, 030305 genetics & heredity, lcsh:R, 1184 Genetics, developmental biology, physiology, 1103 Clinical Sciences, EuroEPINOMICS-RES Consortium, Human genetics, lcsh:Genetics, Genetic Loci, DE-NOVO MUTATIONS, Multigene Family, Molecular Medicine, Human medicine, Orthologous Gene, Genome-Wide Association Study
Abstract: Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has not yet been investigated on a genome-wide scale. We empirically evaluate whether paralog-conserved or non-conserved sites in human gene families are important in NDDs. Methods Gene family information was collected from Ensembl. Paralog-conserved sites were defined based on paralog sequence alignments; 10,068 NDD patients and 2078 controls were statistically evaluated for de novo variant burden in gene families. Results We demonstrate that disease-associated missense variants are enriched at paralog-conserved sites across all disease groups and inheritance models tested. We developed a gene family de novo enrichment framework that identified 43 exome-wide enriched gene families including 98 de novo variant carrying genes in NDD patients of which 28 represent novel candidate genes for NDD which are brain expressed and under evolutionary constraint. Conclusion This study represents the first method to incorporate gene family information into a statistical framework to interpret variant data for NDDs and to discover new NDD-associated genes.
Published: 2020

26. Cerebral small vessel disease genomics and its implications across the lifespan

Author: Sargurupremraj, M. (Muralidharan), Suzuki, H. (Hideaki), Jian, X. (Xueqiu), Sarnowski, C., Evans, T.E (Tavia), Bis, J.C. (Joshua), Eiriksdottir, G. (Gudny), Sakaue, S. (Saori), Terzikhan, N. (Natalie), Habes, M. (Mohamad), Zhao, W. (Wei), Armstrong, N.J. (Nicola J.), Hofer, E. (Edith), Yanek, L.R. (Lisa), Hagenaars, S.P. (Saskia P.), Kumar, R.B. (Rajan B.), Akker, E.B. (Erik) van den, McWhirter, R.E. (Rebekah E.), Trompet, S. (Stella), Mishra, A. (Aniket), Saba, Y. (Yasaman), Satizabal, C.L. (Claudia), Beaudet, G. (Gregory), Petit, L. (Laurent), Tsuchida, A. (Ami), Zago, L. (Laure), Schilling, S. (Sabrina), Sigurdsson, S. (Stefan), Gottesman, R.F. (Rebecca), Lewis, C.E. (Cora E.), Aggarwal, N.T. (Neelum T.), Lopez, O.L. (Oscar), Smith, J.A. (Jennifer A), Valdés Hernández, M.C. (Maria C.), van der Grond, J. (Jeroen), Wright, M.J. (Margaret), Knol, M.J. (Maria J.), Dörr, M. (Marcus), Thomson, R. (Russell), Bordes, C. (Constance), Le Grand, Q. (Quentin), Duperron, M.-G. (Marie-Gabrielle), Smith, A.V. (Albert), Knopman, D.S. (David), Schreiner, P.J. (Pamela), Evans, D.A. (Denis A.), Rotter, J.I. (Jerome I.), Beiser, A. (Alexa), Maniega, S.M. (Susana Muñoz), Beekman, M. (Marian), Trollor, J., Stott, D.J. (David. J.), Vernooij, M.W. (Meike), Wittfeld, K. (Katharina), Niessen, W.J. (Wiro), Soumaré, A. (Aicha), Boerwinkle, E.A. (Eric), Sidney, S. (Stephen), Turner, S.T. (Stephen), Davies, G. (Gail), Thalamuthu, A. (Anbupalam), Völker, U. (Uwe), Buchem, M.A. (Mark) van, Bryan, R.N. (R. Nick), Amin, N. (Najaf), Bastin, M.E. (Mark), Ames, D.J. (David), Teumer, A. (Alexander), Amouyel, P. (Philippe), Kwok, J.B. (John B.), Bülow, R. (Robin), Deary, I.J. (Ian), Schofield, P.R. (Peter R.), Brodaty, H. (Henry), Jiang, J. (Jiyang), Tabara, Y. (Yasuharu), Setoh, K. (Kazuya), Miyamoto, S. (Susumu), Yoshida, K. (Kazumichi), Nagata, M. (Manabu), Kamatani, Y. (Yoichiro), Matsuda, F. (Fumihiko), Psaty, B.M. (Bruce), Bennett, D.A. (David), De Jager, P., Mosley, T.H. (Thomas H.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Warren, H. (Helen), Evangelou, E. (Evangelos), Trégouët, D.-A. (David-Alexandre), Andrade, M. (Mariza) de, Basu, S. (Saonli), Berr, C. (Claudine), Brody, J.A. (Jennifer A.), Chasman, D.I. (Daniel I.), Dartigues, J.-F., Folsom, A.R. (Aaron), Germain, M. (Marine), de Haan, H. (Hugoline), Heit, J.A. (John), Houwing-Duitermaat, J. (Jeanine), Kabrhel, C. (Christopher), Kraft, P. (Peter), Legal, G. (Grégoire), Lindström, S. (Sara), Monajemi, R. (Ramin), Morange, P.-E. (P.), Psaty, B.M. (Bruce M.), Reitsma, P.H. (Pieter H.), Jarvelin, M.-R. (Marjo-Riitta), Rose, L.M. (Lynda M.), Peyvandi, F. (Flora), Saut, N. (Noemie), Slagboom, E. (Eline), Smadja, D. (David), Smith, N.L. (Nicholas L.), Suchon, P. (Pierre), Tang, W. (Weihong), Taylor, K.D. (Kent D.), Tregouet, D.-A. (David-Alexandre), Tzourio, C. (Christophe), Visser, M.C.H. (Marieke) de, Hylckama Vlieg, A. (Astrid) van, Weng, L.-C., Wiggins, K.L. (Kerri L.), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tõnu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela M.), Todt, U. (Unda), Freilinger, T.M. (Tobias M.), Ran, C. (Caroline), Gordon, S.G. (Scott G.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Gudlaug Hrafnsdottir, M. (Maria), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew), Madden, P.A.F. (Pamela A. F.), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Francke Christensen, A. (Anne), Folkmann Hansen, T. (Thomas), Werge, T. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (M. Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), van den Maagdenberg, A.M.J.M. (Arn M. J. M.), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Davey Smith, G. (George), Eriksson, N. (Nicholas), Daly, M.J. (Mark), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel), Nyholt, D.R. (Dale), Palotie, A. (Aarno), Ikram, M.A. (Arfan), Wen, W. (Wei), DeCarli, C. (Charles), Srikanth, V. (Velandai), Jukema, J.W. (Jan Wouter), Slagboom, P.E. (Eline), Kardia, S.L.R. (Sharon), Okada, Y. (Yukinori), Mazoyer, B. (Bernard), Wardlaw, J.M. (J.), Nyquist, P. (Paul), Mather, R., Grabe, H.J. (Hans Jörgen), Schmidt, H. (Helena), Van Duijn, C.M. (Cornelia M.), Gudnason, V. (Vilmundur), Longstreth Jr, W.T., Launer, L.J. (Lenore), Lathrop, M. (Mark), Seshadri, S. (Sudha), Adams, H.H.H. (Hieab), Matthews, P.M. (P.), Fornage, M. (Myriam), Debette, S. (Stéphanie), Sargurupremraj, M. (Muralidharan), Suzuki, H. (Hideaki), Jian, X. (Xueqiu), Sarnowski, C., Evans, T.E (Tavia), Bis, J.C. (Joshua), Eiriksdottir, G. (Gudny), Sakaue, S. (Saori), Terzikhan, N. (Natalie), Habes, M. (Mohamad), Zhao, W. (Wei), Armstrong, N.J. (Nicola J.), Hofer, E. (Edith), Yanek, L.R. (Lisa), Hagenaars, S.P. (Saskia P.), Kumar, R.B. (Rajan B.), Akker, E.B. (Erik) van den, McWhirter, R.E. (Rebekah E.), Trompet, S. (Stella), Mishra, A. (Aniket), Saba, Y. (Yasaman), Satizabal, C.L. (Claudia), Beaudet, G. (Gregory), Petit, L. (Laurent), Tsuchida, A. (Ami), Zago, L. (Laure), Schilling, S. (Sabrina), Sigurdsson, S. (Stefan), Gottesman, R.F. (Rebecca), Lewis, C.E. (Cora E.), Aggarwal, N.T. (Neelum T.), Lopez, O.L. (Oscar), Smith, J.A. (Jennifer A), Valdés Hernández, M.C. (Maria C.), van der Grond, J. (Jeroen), Wright, M.J. (Margaret), Knol, M.J. (Maria J.), Dörr, M. (Marcus), Thomson, R. (Russell), Bordes, C. (Constance), Le Grand, Q. (Quentin), Duperron, M.-G. (Marie-Gabrielle), Smith, A.V. (Albert), Knopman, D.S. (David), Schreiner, P.J. (Pamela), Evans, D.A. (Denis A.), Rotter, J.I. (Jerome I.), Beiser, A. (Alexa), Maniega, S.M. (Susana Muñoz), Beekman, M. (Marian), Trollor, J., Stott, D.J. (David. J.), Vernooij, M.W. (Meike), Wittfeld, K. (Katharina), Niessen, W.J. (Wiro), Soumaré, A. (Aicha), Boerwinkle, E.A. (Eric), Sidney, S. (Stephen), Turner, S.T. (Stephen), Davies, G. (Gail), Thalamuthu, A. (Anbupalam), Völker, U. (Uwe), Buchem, M.A. (Mark) van, Bryan, R.N. (R. Nick), Amin, N. (Najaf), Bastin, M.E. (Mark), Ames, D.J. (David), Teumer, A. (Alexander), Amouyel, P. (Philippe), Kwok, J.B. (John B.), Bülow, R. (Robin), Deary, I.J. (Ian), Schofield, P.R. (Peter R.), Brodaty, H. (Henry), Jiang, J. (Jiyang), Tabara, Y. (Yasuharu), Setoh, K. (Kazuya), Miyamoto, S. (Susumu), Yoshida, K. (Kazumichi), Nagata, M. (Manabu), Kamatani, Y. (Yoichiro), Matsuda, F. (Fumihiko), Psaty, B.M. (Bruce), Bennett, D.A. (David), De Jager, P., Mosley, T.H. (Thomas H.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Warren, H. (Helen), Evangelou, E. (Evangelos), Trégouët, D.-A. (David-Alexandre), Andrade, M. (Mariza) de, Basu, S. (Saonli), Berr, C. (Claudine), Brody, J.A. (Jennifer A.), Chasman, D.I. (Daniel I.), Dartigues, J.-F., Folsom, A.R. (Aaron), Germain, M. (Marine), de Haan, H. (Hugoline), Heit, J.A. (John), Houwing-Duitermaat, J. (Jeanine), Kabrhel, C. (Christopher), Kraft, P. (Peter), Legal, G. (Grégoire), Lindström, S. (Sara), Monajemi, R. (Ramin), Morange, P.-E. (P.), Psaty, B.M. (Bruce M.), Reitsma, P.H. (Pieter H.), Jarvelin, M.-R. (Marjo-Riitta), Rose, L.M. (Lynda M.), Peyvandi, F. (Flora), Saut, N. (Noemie), Slagboom, E. (Eline), Smadja, D. (David), Smith, N.L. (Nicholas L.), Suchon, P. (Pierre), Tang, W. (Weihong), Taylor, K.D. (Kent D.), Tregouet, D.-A. (David-Alexandre), Tzourio, C. (Christophe), Visser, M.C.H. (Marieke) de, Hylckama Vlieg, A. (Astrid) van, Weng, L.-C., Wiggins, K.L. (Kerri L.), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tõnu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela M.), Todt, U. (Unda), Freilinger, T.M. (Tobias M.), Ran, C. (Caroline), Gordon, S.G. (Scott G.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Gudlaug Hrafnsdottir, M. (Maria), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew), Madden, P.A.F. (Pamela A. F.), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Francke Christensen, A. (Anne), Folkmann Hansen, T. (Thomas), Werge, T. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (M. Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), van den Maagdenberg, A.M.J.M. (Arn M. J. M.), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Davey Smith, G. (George), Eriksson, N. (Nicholas), Daly, M.J. (Mark), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel), Nyholt, D.R. (Dale), Palotie, A. (Aarno), Ikram, M.A. (Arfan), Wen, W. (Wei), DeCarli, C. (Charles), Srikanth, V. (Velandai), Jukema, J.W. (Jan Wouter), Slagboom, P.E. (Eline), Kardia, S.L.R. (Sharon), Okada, Y. (Yukinori), Mazoyer, B. (Bernard), Wardlaw, J.M. (J.), Nyquist, P. (Paul), Mather, R., Grabe, H.J. (Hans Jörgen), Schmidt, H. (Helena), Van Duijn, C.M. (Cornelia M.), Gudnason, V. (Vilmundur), Longstreth Jr, W.T., Launer, L.J. (Lenore), Lathrop, M. (Mark), Seshadri, S. (Sudha), Adams, H.H.H. (Hieab), Matthews, P.M. (P.), Fornage, M. (Myriam), and Debette, S. (Stéphanie)
Abstract: White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.
Published: 2020
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27. GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Author: Zhou, W. (Wei), Brumpton, B. (Ben), Kabil, O. (Omer), Gudmundsson, J. (Julius), Thorleifsson, G. (Gudmar), Weinstock, J. (Josh), Zawistowski, M. (Matthew), Nielsen, J.B. (Jonas B.), Chaker, L. (Layal), Medici, M. (Marco), Teumer, A. (Alexander), Naitza, S. (Silvia), Sanna, S. (Serena), Schultheiss, U.T. (Ulla T.), Cappola, A.R. (Anne), Karjalainen, J. (Juha), Kurki, M. (Mitja), Oneka, M. (Morgan), Taylor, P.N. (Peter N.), Fritsche, L.G. (Lars), Graham, S.E. (Sarah E.), Wolford, B.N. (Brooke N.), Overton, W. (William), Rasheed, H. (Humaira), Haug, E.B. (Eirin B.), Gabrielsen, M.E. (Maiken Elvestad), Skogholt, A.H. (Anne Heidi), Surakka, I. (Ida), Davey Smith, G. (George), Pandit, A. (Anita), Roychowdhury, T. (Tanmoy), Hornsby, W.E. (Whitney E.), Jonasson, J.G. (Jon G.), Senter, L. (Leigha), Liyanarachchi, S. (Sandya), Ringel, M.D. (Matthew D.), Xu, L. (Li), Kiemeney, L.A. (Lambertus A.), He, H. (Hao), Netea-Maier, R.T. (Romana), Mayordomo, J.I. (José), Plantinga, T.S. (Theo S.), Hrafnkelsson, J. (Jon), Hjartarson, H. (Hannes), Sturgis, E.M. (Erich M.), Palotie, A. (Aarno), Daly, M.J. (Mark), Citterio, C.E. (Cintia E.), Arvan, P. (Peter), Brummett, C.M. (Chad M.), Boehnke, M. (Michael), La Chapelle, A. (Albert) de, Stefansson, K. (Kari), Hveem, K. (Kristian), Willer, C.J. (Cristen), Asvold, B.O. (Bjorn O.), Zhou, W. (Wei), Brumpton, B. (Ben), Kabil, O. (Omer), Gudmundsson, J. (Julius), Thorleifsson, G. (Gudmar), Weinstock, J. (Josh), Zawistowski, M. (Matthew), Nielsen, J.B. (Jonas B.), Chaker, L. (Layal), Medici, M. (Marco), Teumer, A. (Alexander), Naitza, S. (Silvia), Sanna, S. (Serena), Schultheiss, U.T. (Ulla T.), Cappola, A.R. (Anne), Karjalainen, J. (Juha), Kurki, M. (Mitja), Oneka, M. (Morgan), Taylor, P.N. (Peter N.), Fritsche, L.G. (Lars), Graham, S.E. (Sarah E.), Wolford, B.N. (Brooke N.), Overton, W. (William), Rasheed, H. (Humaira), Haug, E.B. (Eirin B.), Gabrielsen, M.E. (Maiken Elvestad), Skogholt, A.H. (Anne Heidi), Surakka, I. (Ida), Davey Smith, G. (George), Pandit, A. (Anita), Roychowdhury, T. (Tanmoy), Hornsby, W.E. (Whitney E.), Jonasson, J.G. (Jon G.), Senter, L. (Leigha), Liyanarachchi, S. (Sandya), Ringel, M.D. (Matthew D.), Xu, L. (Li), Kiemeney, L.A. (Lambertus A.), He, H. (Hao), Netea-Maier, R.T. (Romana), Mayordomo, J.I. (José), Plantinga, T.S. (Theo S.), Hrafnkelsson, J. (Jon), Hjartarson, H. (Hannes), Sturgis, E.M. (Erich M.), Palotie, A. (Aarno), Daly, M.J. (Mark), Citterio, C.E. (Cintia E.), Arvan, P. (Peter), Brummett, C.M. (Chad M.), Boehnke, M. (Michael), La Chapelle, A. (Albert) de, Stefansson, K. (Kari), Hveem, K. (Kristian), Willer, C.J. (Cristen), and Asvold, B.O. (Bjorn O.)
Abstract: Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to 119,715 individuals and identify 74 genome-wide significant loci for TSH, of which 28 are previously unreported. Functional experiments show that the thyroglobulin protein-altering variants P118L and G67S impact thyroglobulin secretion. Phenome-wide association analysis in the UK Biobank demonstrates the pleiotropic effects of TSH-associated variants and a polygenic score for higher TSH levels is associated with a reduced risk of thyroid cancer in the UK Biobank and three other independent studies. Two-sample Mendelian randomization using TSH index variants as instrumental variables suggests a protective effect of higher TSH levels (indicating lower thyroid function) on risk of thyroid cancer and goiter. Our findings highlight the pleiotropic effects of TSH-associated variants on thyroid function and growth of malignant and benign thyroid tumors.
Published: 2020
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28. A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

Author: Guo, Y. (Yanjun), Rist, P.M. (Pamela M.), Daghlas, I. (Iyas), Giulianini, F. (Franco), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tonu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela), Todt, U. (Unda), Müller-Myhsok, B. (Bertram), Ran, C. (Caroline), Gordon, S.D. (Scott D.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie E.), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Hrafnsdottir, M.G. (Maria Gudlaug), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda W. J. H.), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew C.), Madden, P.A. (Pamela), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Christensen, A.F. (Anne Francke), Hansen, T. (Thomas), Werge, T.M. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), Maagdenberg, A.M.J.M. (Arn M. J. M. van den), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Smith, G.D. (George Davey), Stefansson, K. (Kari), Eriksson, N. (Nicholas), Daly, M.J. (Mark J.), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel I.), Nyholt, D.R. (Dale R.), Palotie, A. (Aarno), Agee, M. (Michelle), Auton, A. (Adam), Bell, R.K. (Robert K.), Bryc, K. (Katarzyna), Elson, S.L. (Sarah L.), Fontanillas, P. (Pierre), Huber, K.E. (Karen E.), Kleinman, A. (Aaron), Litterman, N.K. (Nadia K.), McCreight, J.C. (Jennifer C.), McIntyre, M.H. (Matthew H.), Mountain, J.L. (Joanna L.), Noblin, E.S. (Elizabeth S.), Northover, C.A.M. (Carrie A. M.), Pitts, S.J. (Steven J.), Sathirapongsasuti, J.F. (J. Fah), Sazonova, O.V. (Olga V.), Shelton, J.F. (Janie F.), Shringarpure, S. (Suyash), Tian, C. (Chao), Tung, J.Y. (Joyce Y.), Vacic, V. (Vladimir), Kurth, K.H. (Karl), Chasman, D.I. (Daniel), Guo, Y. (Yanjun), Rist, P.M. (Pamela M.), Daghlas, I. (Iyas), Giulianini, F. (Franco), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tonu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela), Todt, U. (Unda), Müller-Myhsok, B. (Bertram), Ran, C. (Caroline), Gordon, S.D. (Scott D.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie E.), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Hrafnsdottir, M.G. (Maria Gudlaug), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda W. J. H.), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew C.), Madden, P.A. (Pamela), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Christensen, A.F. (Anne Francke), Hansen, T. (Thomas), Werge, T.M. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), Maagdenberg, A.M.J.M. (Arn M. J. M. van den), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Smith, G.D. (George Davey), Stefansson, K. (Kari), Eriksson, N. (Nicholas), Daly, M.J. (Mark J.), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel I.), Nyholt, D.R. (Dale R.), Palotie, A. (Aarno), Agee, M. (Michelle), Auton, A. (Adam), Bell, R.K. (Robert K.), Bryc, K. (Katarzyna), Elson, S.L. (Sarah L.), Fontanillas, P. (Pierre), Huber, K.E. (Karen E.), Kleinman, A. (Aaron), Litterman, N.K. (Nadia K.), McCreight, J.C. (Jennifer C.), McIntyre, M.H. (Matthew H.), Mountain, J.L. (Joanna L.), Noblin, E.S. (Elizabeth S.), Northover, C.A.M. (Carrie A. M.), Pitts, S.J. (Steven J.), Sathirapongsasuti, J.F. (J. Fah), Sazonova, O.V. (Olga V.), Shelton, J.F. (Janie F.), Shringarpure, S. (Suyash), Tian, C. (Chao), Tung, J.Y. (Joyce Y.), Vacic, V. (Vladimir), Kurth, K.H. (Karl), and Chasman, D.I. (Daniel)
Abstract: Blood pressure (BP) was inconsistently associated with migraine and the mechanisms of BP-lowering medications in migraine prophylaxis are unknown. Leveraging large-scale summary statistics for migraine (Ncases/Ncontrols = 59,674/316,078) and BP (N = 757,601), we find positive genetic correlations of migraine with diastolic BP (DBP, rg = 0.11, P = 3.56 × 10−06) and systolic BP (SBP, rg = 0.06, P = 0.01), but not pulse pressure (PP, rg = −0.01, P = 0.75). Cross-trait meta-analysis reveals 14 shared loci (P ≤ 5 × 10−08), nine of which replicate (P < 0.05) in the UK Biobank. Five shared loci (ITGB5, SMG6, ADRA2B, ANKDD1B, and KIAA0040) are reinforced in gene-level analysis and highlight potential mechanisms involving vascular development, endothelial function and calcium homeostasis. Mendelian randomization reveals stronger instrumental estimates of DBP (OR [95% CI] = 1.20 [1.15–1.25]/10 mmHg; P = 5.57 × 10−25) on migraine than SBP (1.05 [1.03–1.07]/10 mmHg; P = 2.60 × 10−07) and a corresponding opposite effect for PP (0.92 [0.88–0.95]/10 mmHg; P = 3.65 × 10−07). These findings support a critical role of DBP in migraine susceptibility and shared biology underlying BP and migraine.
Published: 2020
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29. Diabetes is associated with familial idiopathic normal pressure hydrocephalus:a case–control comparison with family members

Author: Räsänen, J. (Joel), Huovinen, J. (Joel), Korhonen, V. E. (Ville E.), Junkkari, A. (Antti), Kastinen, S. (Sami), Komulainen, S. (Simo), Oinas, M. (Minna), Avellan, C. (Cecilia), Frantzen, J. (Janek), Rinne, J. (Jaakko), Ronkainen, A. (Antti), Kauppinen, M. (Mikko), Lönnrot, K. (Kimmo), Perola, M. (Markus), Koivisto, A. M. (Anne M.), Remes, A. M. (Anne M.), Soininen, H. (Hilkka), Hiltunen, M. (Mikko), Helisalmi, S. (Seppo), Kurki, M. I. (Mitja I.), Jääskeläinen, J. E. (Juha E.), Leinonen, V. (Ville), Räsänen, J. (Joel), Huovinen, J. (Joel), Korhonen, V. E. (Ville E.), Junkkari, A. (Antti), Kastinen, S. (Sami), Komulainen, S. (Simo), Oinas, M. (Minna), Avellan, C. (Cecilia), Frantzen, J. (Janek), Rinne, J. (Jaakko), Ronkainen, A. (Antti), Kauppinen, M. (Mikko), Lönnrot, K. (Kimmo), Perola, M. (Markus), Koivisto, A. M. (Anne M.), Remes, A. M. (Anne M.), Soininen, H. (Hilkka), Hiltunen, M. (Mikko), Helisalmi, S. (Seppo), Kurki, M. I. (Mitja I.), Jääskeläinen, J. E. (Juha E.), and Leinonen, V. (Ville)
Abstract: Background: The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH) is still unclear. Previous studies have shown a familial aggregation and a potential heritability when it comes to iNPH. Our aim was to conduct a novel case-controlled comparison between familial iNPH (fNPH) patients and their elderly relatives, involving multiple different families. Methods: Questionnaires and phone interviews were used for collecting the data and categorising the iNPH patients into the familial (fNPH) and the sporadic groups. Identical questionnaires were sent to the relatives of the potential fNPH patients. Venous blood samples were collected for genetic studies. The disease histories of the probable fNPH patients (n = 60) were compared with their ≥ 60-year-old relatives with no iNPH (n = 49). A modified Charlson Comorbidity Index (CCI) was used to measure the overall disease burden. Fisher’s exact test (two-tailed), the Mann–Whitney U test (two-tailed) and a multivariate binary logistic regression analysis were used to perform the statistical analyses. Results: Diabetes (32% vs. 14%, p = 0.043), arterial hypertension (65.0% vs. 43%, p = 0.033), cardiac insufficiency (16% vs. 2%, p = 0.020) and depressive symptoms (32% vs. 8%, p = 0.004) were overrepresented among the probable fNPH patients compared to their non-iNPH relatives. In the age-adjusted multivariate logistic regression analysis, diabetes remained independently associated with fNPH (OR = 3.8, 95% CI 1.1–12.9, p = 0.030). Conclusions: Diabetes is associated with fNPH and a possible risk factor for fNPH. Diabetes could contribute to the pathogenesis of iNPH/fNPH, which motivates to further prospective and gene-environmental studies to decipher the disease modelling of iNPH/fNPH.
Published: 2020

30. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author: Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), and Zweier, C. (Christiane)
Subjects: Drosophila melanogaster, intellectual disability, neurodevelopmental disorders, CTCF, chromatin organization
Abstract: Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. Results: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. Conclusion: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.
Published: 2019

31. Usefulness of Internet in adolescent mental health outpatient care

Author: KURKI, M., KOIVUNEN, M., ANTTILA, M., HÄTÖNEN, H., and VÄLIMÄKI, M.
Published: 2011
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32. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease

Author: Bryois J., Skene N. G., Hansen T. F., Kogelman L. J. A., Watson H. J., Liu Z., Adan R., Alfredsson L., Ando T., Andreassen O., Baker J., Bergen A., Berrettini W., Birgegard A., Boden J., Boehm I., Boni C., Boraska Perica V., Brandt H., Breen G., Buehren K., Bulik C., Burghardt R., Cassina M., Cichon S., Clementi M., Coleman J., Cone R., Courtet P., Crawford S., Crow S., Crowley J., Danner U., Davis O., de Zwaan M., Dedoussis G., Degortes D., DeSocio J., Dick D., Dikeos D., Dina C., Dmitrzak-Weglarz M., Docampo Martinez E., Duncan L., Egberts K., Ehrlich S., Escaramis G., Esko T., Estivill X., Farmer A., Favaro A., Fernandez-Aranda F., Fichter M., Fischer K., Focker M., Foretova L., Forstner A., Forzan M., Franklin C., Gallinger S., Gaspar H., Giegling I., Giuranna J., Giusti-Rodriquez P., Gonidakis F., Gordon S., Gorwood P., Gratacos Mayora M., Grove J., Guillaume S., Guo Y., Hakonarson H., Halmi K., Hanscombe K., Hatzikotoulas K., Hauser J., Hebebrand J., Helder S., Henders A., Herms S., Herpertz-Dahlmann B., Herzog W., Hinney A., Horwood L. J., Hubel C., Huckins L., Hudson J., Imgart H., Inoko H., Janout V., Jimenez-Murcia S., Johnson C., Jordan J., Julia A., Jureus A., Kalsi G., Kaminska D., Kaplan A., Kaprio J., Karhunen L., Karwautz A., Kas M., Kaye W., Kennedy J., Kennedy M., Keski-Rahkonen A., Kiezebrink K., Kim Y. -R., Kirk K., Klareskog L., Klump K., Knudsen G. P., La Via M., Landen M., Larsen J., Le Hellard S., Leppa V., Levitan R., Li D., Lichtenstein P., Lilenfeld L., Lin B. D., Lissowska J., Luykx J., Magistretti P., Maj M., Mannik K., Marsal S., Marshall C., Martin N., Mattheisen M., Mattingsdal M., McDevitt S., McGuffin P., Medland S., Metspalu A., Meulenbelt I., Micali N., Mitchell J., Mitchell K., Monteleone P., Monteleone A. M., Montgomery G., Mortensen P. B., Munn-Chernoff M., Nacmias B., Navratilova M., Norring C., Ntalla I., Olsen C., Ophoff R., O'Toole J., Padyukov L., Palotie A., Pantel J., Papezova H., Parker R., Pearson J., Pedersen N., Petersen L., Pinto D., Purves K., Rabionet R., Raevuori A., Ramoz N., Reichborn-Kjennerud T., Ricca V., Ripatti S., Ripke S., Ritschel F., Roberts M., Rotondo A., Rujescu D., Rybakowski F., Santonastaso P., Scherag A., Scherer S., Schmidt U., Schork N., Schosser A., Seitz J., Slachtova L., Slagboom P. E., Slof-Op 't Landt M., Slopien A., Sorbi S., Strober M., Stuber G., Sullivan P., Swiatkowska B., Szatkiewicz J., Tachmazidou I., Tenconi E., Thornton L., Tortorella A., Tozzi F., Treasure J., Tsitsika A., Tyszkiewicz-Nwafor M., Tziouvas K., van Elburg A., van Furth E., Wade T., Wagner G., Walton E., Watson H., Werge T., Whiteman D., Widen E., Woodside D. B., Yao S., Yilmaz Z., Zeggini E., Zerwas S., Zipfel S., Anttila V., Artto V., Belin A. C., de Boer I., Boomsma D. I., Borte S., Chasman D. I., Cherkas L., Christensen A. F., Cormand B., Cuenca-Leon E., Davey-Smith G., Dichgans M., van Duijn C., Esserlind A. L., Ferrari M., Frants R. R., Freilinger T., Furlotte N., Gormley P., Griffiths L., Hamalainen E., Hiekkala M., Ikram M. A., Ingason A., Jarvelin M. -R., Kajanne R., Kallela M., Kaunisto M., Kubisch C., Kurki M., Kurth T., Launer L., Lehtimaki T., Lessel D., Ligthart L., Litterman N., Maagdenberg A., Macaya A., Malik R., Mangino M., McMahon G., Muller-Myhsok B., Neale B. M., Northover C., Nyholt D. R., Olesen J., Palta P., Pedersen L., Posthuma D., Pozo-Rosich P., Pressman A., Raitakari O., Schurks M., Sintas C., Stefansson K., Stefansson H., Steinberg S., Strachan D., Terwindt G., Vila-Pueyo M., Wessman M., Winsvold B. S., Zhao H., Zwart J. A., Agee M., Alipanahi B., Auton A., Bell R., Bryc K., Elson S., Fontanillas P., Heilbron K., Hinds D., Huber K., Kleinman A., McCreight J., McIntyre M., Mountain J., Noblin E., Pitts S., Sathirapongsasuti J., Sazonova O., Shelton J., Shringarpure S., Tian C., Tung J., Vacic V., Wilson C., Brueggeman L., Bulik C. M., Arenas E., Hjerling-Leffler J., Sullivan P. F., Functional Genomics, APH - Methodology, APH - Mental Health, Biological Psychology, APH - Personalized Medicine, Amsterdam Neuroscience - Complex Trait Genetics, Complex Trait Genetics, Bryois, Julien, Hansen, Thomas Folkmann, Kogelman, Lisette J A, Watson, Hunna J, Breen, Gerome, Bulik, Cynthia M, Micali, Nadia, van Duijn, C, Kas lab, Bryois, J., Skene, N. G., Hansen, T. F., Kogelman, L. J. A., Watson, H. J., Liu, Z., Adan, R., Alfredsson, L., Ando, T., Andreassen, O., Baker, J., Bergen, A., Berrettini, W., Birgegard, A., Boden, J., Boehm, I., Boni, C., Boraska Perica, V., Brandt, H., Breen, G., Buehren, K., Bulik, C., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Coleman, J., Cone, R., Courtet, P., Crawford, S., Crow, S., Crowley, J., Danner, U., Davis, O., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J., Dick, D., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo Martinez, E., Duncan, L., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M., Fischer, K., Focker, M., Foretova, L., Forstner, A., Forzan, M., Franklin, C., Gallinger, S., Gaspar, H., Giegling, I., Giuranna, J., Giusti-Rodriquez, P., Gonidakis, F., Gordon, S., Gorwood, P., Gratacos Mayora, M., Grove, J., Guillaume, S., Guo, Y., Hakonarson, H., Halmi, K., Hanscombe, K., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S., Henders, A., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Hinney, A., Horwood, L. J., Hubel, C., Huckins, L., Hudson, J., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Johnson, C., Jordan, J., Julia, A., Jureus, A., Kalsi, G., Kaminska, D., Kaplan, A., Kaprio, J., Karhunen, L., Karwautz, A., Kas, M., Kaye, W., Kennedy, J., Kennedy, M., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Kirk, K., Klareskog, L., Klump, K., Knudsen, G. P., La Via, M., Landen, M., Larsen, J., Le Hellard, S., Leppa, V., Levitan, R., Li, D., Lichtenstein, P., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P., Maj, M., Mannik, K., Marsal, S., Marshall, C., Martin, N., Mattheisen, M., Mattingsdal, M., Mcdevitt, S., Mcguffin, P., Medland, S., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, J., Mitchell, K., Monteleone, P., Monteleone, A. M., Montgomery, G., Mortensen, P. B., Munn-Chernoff, M., Nacmias, B., Navratilova, M., Norring, C., Ntalla, I., Olsen, C., Ophoff, R., O'Toole, J., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Parker, R., Pearson, J., Pedersen, N., Petersen, L., Pinto, D., Purves, K., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ripke, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S., Schmidt, U., Schork, N., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op 't Landt, M., Slopien, A., Sorbi, S., Strober, M., Stuber, G., Sullivan, P., Swiatkowska, B., Szatkiewicz, J., Tachmazidou, I., Tenconi, E., Thornton, L., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A., van Furth, E., Wade, T., Wagner, G., Walton, E., Watson, H., Werge, T., Whiteman, D., Widen, E., Woodside, D. B., Yao, S., Yilmaz, Z., Zeggini, E., Zerwas, S., Zipfel, S., Anttila, V., Artto, V., Belin, A. C., de Boer, I., Boomsma, D. I., Borte, S., Chasman, D. I., Cherkas, L., Christensen, A. F., Cormand, B., Cuenca-Leon, E., Davey-Smith, G., Dichgans, M., van Duijn, C., Esserlind, A. L., Ferrari, M., Frants, R. R., Freilinger, T., Furlotte, N., Gormley, P., Griffiths, L., Hamalainen, E., Hiekkala, M., Ikram, M. A., Ingason, A., Jarvelin, M. -R., Kajanne, R., Kallela, M., Kaunisto, M., Kubisch, C., Kurki, M., Kurth, T., Launer, L., Lehtimaki, T., Lessel, D., Ligthart, L., Litterman, N., Maagdenberg, A., Macaya, A., Malik, R., Mangino, M., Mcmahon, G., Muller-Myhsok, B., Neale, B. M., Northover, C., Nyholt, D. R., Olesen, J., Palta, P., Pedersen, L., Posthuma, D., Pozo-Rosich, P., Pressman, A., Raitakari, O., Schurks, M., Sintas, C., Stefansson, K., Stefansson, H., Steinberg, S., Strachan, D., Terwindt, G., Vila-Pueyo, M., Wessman, M., Winsvold, B. S., Zhao, H., Zwart, J. A., Agee, M., Alipanahi, B., Auton, A., Bell, R., Bryc, K., Elson, S., Fontanillas, P., Heilbron, K., Hinds, D., Huber, K., Kleinman, A., Mccreight, J., Mcintyre, M., Mountain, J., Noblin, E., Pitts, S., Sathirapongsasuti, J., Sazonova, O., Shelton, J., Shringarpure, S., Tian, C., Tung, J., Vacic, V., Wilson, C., Brueggeman, L., Bulik, C. M., Arenas, E., Hjerling-Leffler, J., and Sullivan, P. F.
Subjects: Nervous system, Netherlands Twin Register (NTR), Aging, Parkinson's disease, Medizin, Genome-wide association study, Disease, Neurodegenerative, Medical and Health Sciences, ddc:616.89, Mice, 0302 clinical medicine, Malaltia de Parkinson, Monoaminergic, Eating Disorders Working Group of the Psychiatric Genomics Consortium, 2.1 Biological and endogenous factors, Aetiology, Cervell, ALZHEIMERS, NEURONS, Animals, Brain, Genome-Wide Association Study, Humans, Neurons, Parkinson Disease, Transcriptome, 11 Medical and Health Sciences, Genetics & Heredity, 0303 health sciences, Parkinson Disease/etiology/genetics/pathology, HERITABILITY, International Headache Genetics Consortium, Biological Sciences, Transcriptome/genetics, medicine.anatomical_structure, Neurological, Genome-Wide Association Study/methods, Alzheimer's disease, Life Sciences & Biomedicine, Gens, Cell type, TISSUES, 1.1 Normal biological development and functioning, Biology, IMMUNITY, 23andMe Research Team, Article, 03 medical and health sciences, ENTERIC NERVOUS-SYSTEM, SDG 3 - Good Health and Well-being, Underpinning research, medicine, Genetics, Brain/pathology, GENOME-WIDE ASSOCIATION, NUCLEUS, METAANALYSIS, 030304 developmental biology, Science & Technology, Neurons/pathology, Human Genome, Neurosciences, 06 Biological Sciences, medicine.disease, RISK LOCI, Brain Disorders, Genes, Enteric nervous system, Neuroscience, 030217 neurology & neurosurgery, Developmental Biology
Abstract: Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. Eating Disorders Working Group of the Psychiatric Genomics Consortium Roger Adan17,18,19, Lars Alfredsson20, Tetsuya Ando21, Ole Andreassen22, Jessica Baker9, Andrew Bergen23,24, Wade Berrettini25, Andreas Birgegård26,27, Joseph Boden28, Ilka Boehm29, Claudette Boni30, Vesna Boraska Perica31,32, Harry Brandt33, Gerome Breen13,14, Julien Bryois1, Katharina Buehren34, Cynthia Bulik1,9,15, Roland Burghardt35, Matteo Cassina36, Sven Cichon37, Maurizio Clementi36, Jonathan Coleman13,14, Roger Cone38, Philippe Courtet39, Steven Crawford33, Scott Crow40, James Crowley16,26, unna Danner18, Oliver Davis41,42, Martina de Zwaan43, George Dedoussis44, Daniela Degortes45, Janiece DeSocio46, Danielle Dick47, Dimitris Dikeos48, Christian Dina49,50, Monika Dmitrzak-Weglarz51, Elisa Docampo Martinez52,53,54, Laramie Duncan55, Karin Egberts56, Stefan Ehrlich29, Geòrgia Escaramís52,53,54, Tõnu Esko57,58, Xavier Estivill52,53,54,59, Anne Farmer13, Angela Favaro45, Fernando Fernández-Aranda60,61, Manfred Fichter62,63, Krista Fischer57, Manuel Föcker64, Lenka Foretova65, Andreas Forstner37,66,67,68,69, Monica Forzan36, Christopher Franklin31, Steven Gallinger70, Héléna Gaspar13,14, Ina Giegling71, Johanna Giuranna64, Paola Giusti-Rodríquez16, Fragiskos Gonidakis72, Scott Gordon73, Philip Gorwood30,74, Monica Gratacos Mayora52,53,54, Jakob Grove75,76,77,78, Sébastien Guillaume39, Yiran Guo79, Hakon Hakonarson79,80, Katherine Halmi81, Ken Hanscombe82, Konstantinos Hatzikotoulas31, Joanna Hauser83, Johannes Hebebrand64, Sietske Helder13,84, Anjali Henders85, Stefan Herms37,69, Beate Herpertz-Dahlmann34, Wolfgang Herzog86, Anke Hinney64, L. John Horwood28, Christopher Hübel1,13, Laura Huckins31,87, James Hudson88, Hartmut Imgart89, Hidetoshi Inoko90, Vladimir Janout91, Susana Jiménez-Murcia60,61, Craig Johnson92, Jennifer Jordan93,94, Antonio Julià95, Anders Juréus1, Gursharan Kalsi13, Deborah Kaminská96, Allan Kaplan97, Jaakko Kaprio98,99, Leila Karhunen100, Andreas Karwautz101, Martien Kas17,102, Walter Kaye103, James Kennedy97, Martin Kennedy104, Anna Keski-Rahkonen98, Kirsty Kiezebrink105, Youl-Ri Kim106, Katherine Kirk73, Lars Klareskog107, Kelly Klump108, Gun Peggy Knudsen109, Maria La Via9, Mikael Landén1,19, Janne Larsen76,110,111, Stephanie Le Hellard112,113,114, Virpi Leppä1, Robert Levitan115, Dong Li79, Paul Lichtenstein1, Lisa Lilenfeld116, Bochao Danae Lin17, Jolanta Lissowska117, Jurjen Luykx17, Pierre Magistretti118,119, Mario Maj120, Katrin Mannik57,121, Sara Marsal95, Christian Marshall122, Nicholas Martin73, Manuel Mattheisen26,27,75,123, Morten Mattingsdal22, Sara McDevitt124,125, Peter McGuffin13, Sarah Medland73, Andres Metspalu57,126, Ingrid Meulenbelt127, Nadia Micali128,129, James Mitchell130, Karen Mitchell131, Palmiero Monteleone132, Alessio Maria Monteleone120, Grant Montgomery73,85,133, Preben Bo Mortensen76,110,111, Melissa Munn-Chernoff9, Benedetta Nacmias134, Marie Navratilova65, Claes Norring26,27, Ioanna Ntalla44, Catherine Olsen73, Roel Ophoff17,135, Julie O’Toole136, Leonid Padyukov107, Aarno Palotie58,99,137, Jacques Pantel30, Hana Papezova96, Richard Parker73, John Pearson138, Nancy Pedersen1, Liselotte Petersen76,110,111, Dalila Pinto87, Kirstin Purves13, Raquel Rabionet139,140,141, Anu Raevuori98, Nicolas Ramoz30, Ted Reichborn-Kjennerud109,142, Valdo Ricca134,143, Samuli Ripatti144, Stephan Ripke145,146,147, Franziska Ritschel29,148, Marion Roberts13, Alessandro Rotondo149, Dan Rujescu62,71, Filip Rybakowski150, Paolo Santonastaso151, André Scherag152, Stephen Scherer153, ulrike Schmidt13, Nicholas Schork154, Alexandra Schosser155, Jochen Seitz34, Lenka Slachtova156, P. Eline Slagboom127, Margarita Slof-Op ‘t Landt157,158, Agnieszka Slopien159, Sandro Sorbi134,160, Michael Strober161,162, Garret Stuber9,163, Patrick Sullivan1,16, Beata Świątkowska164, Jin Szatkiewicz16, Ioanna Tachmazidou31, Elena Tenconi45, Laura Thornton9, Alfonso Tortorella165,166, Federica Tozzi167, Janet Treasure13, Artemis Tsitsika168, Marta Tyszkiewicz-Nwafor150, Konstantinos Tziouvas169, Annemarie van Elburg18,170, Eric van Furth157,158, Tracey Wade171, Gudrun Wagner101, Esther Walton29, Hunna Watson9,10,11, Thomas Werge172, David Whiteman73, Elisabeth Widen99, D. Blake Woodside173,174, Shuyang Yao1, Zeynep Yilmaz9,16, Eleftheria Zeggini31,175, Stephanie Zerwas9 and Stephan Zipfel176 17Brain Center Rudolf Magnus, Department of Translational Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands. 18Center for Eating Disorders Rintveld, Altrecht Mental Health Institute, Zeist, the Netherlands. 19Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 20Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. 21Department of Behavioral Medicine, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan. 22NORMENT KG Jebsen Centre, Division of Mental Health and Addiction, University of Oslo, Oslo University Hospital, Oslo, Norway. 23BioRealm, LLC, Walnut, CA, USA. 24Oregon Research Institute, Eugene, OR, USA. 25Department of Psychiatry, Center for Neurobiology and Behavior, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. 26Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. 27Center for Psychiatry Research, Stockholm Health Care Services, Stockholm City Council, Stockholm, Sweden. 28Christchurch Health and Development Study, University of Otago, Christchurch, New Zealand. 29Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany. 30INSERM U894, Centre of Psychiatry and Neuroscience, Paris, France. 31Wellcome Sanger Institute, Hinxton, Cambridge, UK. 32Department of Medical Biology, School of Medicine, University of Split, Split, Croatia. 33The Center for Eating Disorders at Sheppard Pratt, Baltimore, MD, USA. 34Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, RWTH Aachen University, Aachen, Germany. 35Klinikum Frankfurt/Oder, Frankfurt, Germany. 36Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padua, Italy. 37Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland. 38Life Sciences Institute and Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA. 39Department of Emergency Psychiatry and Post-Acute Care, CHRU Montpellier, University of Montpellier, Montpellier, France. 40Department of Psychiatry, University of Minnesota, Minneapolis, MN, USA. 41MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. 42School of Social and Community Medicine, University of Bristol, Bristol, UK. 43Department of Psychosomatic Medicine and Psychotherapy, Hannover Medical School, Hannover, Germany. 44Department of Nutrition and Dietetics, Harokopio University, Athens, Greece. 45Department of Neurosciences, University of Padova, Padua, Italy. 46College of Nursing, Seattle University, Seattle, WA, USA. 47Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA. 48Department of Psychiatry, Athens University Medical School, Athens University, Athens, Greece. 49L’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France. 50L’institut du thorax, CHU Nantes, Nantes, France. 51Department of Psychiatric Genetics, Poznań University of Medical Sciences, Poznań, Poland. 52Barcelona Institute of Science and Technology, Barcelona, Spain. 53Universitat Pompeu Fabra, Barcelona, Spain. 54Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública (CIBERESP), Barcelona, Spain. 55Department of Psychiatry and Behavioral Sciences, Stanford University Stanford, CA, USA. 56Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital of Würzburg, Centre for Mental Health, Würzburg, Germany. 57Estonian Genome Center, University of Tartu, Tartu, Estonia. 58Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA. 59Genomics and Disease, Bioinformatics and Genomics Programme, Centre for Genomic Regulation, Barcelona, Spain. 60Department of Psychiatry, University Hospital of Bellvitge –IDIBELL and CIBERobn, Barcelona, Spain. 61Department of Clinical Sciences, School of Medicine, University of Barcelona, Barcelona, Spain. 62Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University (LMU), Munich, Germany. 63Schön Klinik Roseneck affiliated with the Medical Faculty of the University of Munich (LMU), Munich, Germany. 64Department of Child and Adolescent Psychiatry, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. 65Department of Cancer, Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic. 66Institute of Human Genetics, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany. 67Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany. 68Department of Psychiatry (UPK), University of Basel, Basel, Switzerland. 69Department of Biomedicine, University of Basel, Basel, Switzerland. 70Department of Surgery, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. 71Department of Psychiatry, Psychotherapy and Psychosomatics, Martin Luther University of Halle-Wittenberg, Halle, Germany. 721st Psychiatric Department, National and Kapodistrian University of Athens, Medical School, Eginition Hospital, Athens, Greece. 73QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. 74CMME (Groupe Hospitalier Sainte-Anne), Paris Descartes University, Paris, France. 75Department of Biomedicine, Aarhus University, Aarhus, Denmark. 76The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSyCH), Aarhus, Denmark. 77Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark. 78Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark. 79Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA. 80Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. 81Department of Psychiatry, Weill Cornell Medical College, New york, Ny, USA. 82Department of Medical and Molecular Genetics, King’s College London, Guy’s Hospital, London, UK. 83Department of Adult Psychiatry, Poznań University of Medical Sciences, Poznań, Poland. 84Zorg op Orde, Leidschendam, the Netherlands. 85Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia. 86Department of General Internal Medicine and Psychosomatics, Heidelberg University Hospital, Heidelberg University, Heidelberg, Germany. 87Department of Psychiatry, and Genetics and Genomics Sciences, Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New york, Ny, USA. 88Biological Psychiatry Laboratory, McLean Hospital/Harvard Medical School, Boston, MA, USA. 89Eating Disorders Unit, Parklandklinik, Bad Wildungen, Germany. 90Department of Molecular Life Science, Division of Basic Medical Science and Molecular Medicine, School of Medicine, Tokai University, Isehara, Japan. 91Faculty of Health Sciences, Palacky University, Olomouc, Czech Republic. 92Eating Recovery Center, Denver, CO, USA. 93Department of Psychological Medicine, University of Otago, Christchurch, New Zealand. 94Canterbury District Health Board, Christchurch, New Zealand. 95Rheumatology Research Group, Vall d’Hebron Research Institute, Barcelona, Spain. 96Department of Psychiatry, First Faculty of Medicine, Charles University, Prague, Czech Republic. 97Center for Addiction and Mental Health, Department of Psychiatry, Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada. 98Department of Public Health, University of Helsinki, Helsinki, Finland. 99Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland. 100Institute of Public Health and Clinical Nutrition, Department of Clinical Nutrition, University of Eastern Finland, Kuopio, Finland. 101Eating Disorders Unit, Department of Child and Adolescent Psychiatry, Medical University of Vienna, Vienna, Austria. 102Groningen Institute for Evolutionary Life Sciences, University of Groningen, Groningen, the Netherlands. 103Department of Psychiatry, University of California San Diego, San Diego, CA, USA. 104Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. 105Health Services Research Unit, University of Aberdeen, Aberdeen, UK. 106Department of Psychiatry, Seoul Paik Hospital, Inje University, Seoul, Korea. 107Rheumatology Unit, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. 108Department of Psychology, Michigan State University, East Lansing, MI, USA. 109Department of Mental Disorders, Norwegian Institute of Public Health, Oslo, Norway. 110National Centre for Register-Based Research, Aarhus BSS, Aarhus University, Aarhus, Denmark. 111Centre for Integrated Register-based Research (CIRRAU), Aarhus University, Aarhus, Denmark. 112Department of Clinical Science, K.G. Jebsen Centre for Psychosis Research, Norwegian Centre for Mental Disorders Research (NORMENT), University of Bergen, Bergen, Norway. 113Dr. Einar Martens Research Group for Biological Psychiatry, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway. 114Department of Clinical Medicine, Laboratory Building, Haukeland University Hospital, Bergen, Norway. 115Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada. 116American School of Professional Psychology, Argosy University, Northern Virginia, Arlington, VA, USA. 117Department of Cancer Epidemiology and Prevention, M Skłodowska-Curie Cancer Center - Oncology Center, Warsaw, Poland. 118BESE Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia. 119Department of Psychiatry, University of Lausanne-University Hospital of Lausanne (UNIL-CHUV), Lausanne, Switzerland. 120Department of Psychiatry, University of Campania ‘Luigi Vanvitelli’, Naples, Italy. 121Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. 122Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada. 123Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany. 124Department of Psychiatry, University College Cork, Cork, Ireland. 125Eist Linn Adolescent Unit, Bessborough, Health Service Executive South, Cork, Ireland. 126Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. 127Molecular Epidemiology Section (Department of Medical Statistics), Leiden University Medical Centre, Leiden, the Netherlands. 128Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland. 129Division of Child and Adolescent Psychiatry, Geneva University Hospital, Geneva, Switzerland. 130Department of Psychiatry and Behavioral Science, University of North Dakota School of Medicine and Health Sciences, Fargo, ND, USA. 131National Center for PTSD, VA Boston Healthcare System, Department of Psychiatry, Boston University School of Medicine, Boston, MA, USA. 132Department of Medicine, Surgery and Dentistry ‘Scuola Medica Salernitana’, University of Salerno, Salerno, Italy. 133Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia. 134Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy. 135Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA. 136Kartini Clinic, Portland, OR, USA. 137Center for Human Genome Research at the Massachusetts General Hospital, Boston, MA, USA. 138Biostatistics and Computational Biology Unit, University of Otago, Christchurch, New Zealand. 139Saint Joan de Déu Research Institute, Saint Joan de Déu Barcelona Children’s Hospital, Barcelona, Spain. 140Institute of Biomedicine (IBUB), University of Barcelona, Barcelona, Spain. 141Department of Genetics, Microbiology and Statistics, University of Barcelona, Barcelona, Spain. 142Institute of Clinical Medicine, University of Oslo, Oslo, Norway. 143Department of Health Science, University of Florence, Florence, Italy. 144Department of Biometry, University of Helsinki, Helsinki, Finland. 145Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. 146Stanley Center for Psychiatric Research, Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA. 147Department of Psychiatry and Psychotherapy, Charité - Universitätsmedizin, Berlin, Germany. 148Eating Disorders Research and Treatment Center, Department of Child and Adolescent Psychiatry, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany. 149Department of Psychiatry, Neurobiology, Pharmacology, and Biotechnologies, University of Pisa, Pisa, Italy. 150Department of Psychiatry, Poznań University of Medical Sciences, Poznań, Poland. 151Department of Neurosciences, Padua Neuroscience Center, University of Padova, Padua, Italy. 152Institute of Medical Statistics, Computer and Data Sciences, Jena University Hospital, Jena, Germany. 153Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. 154J. Craig Venter Institute (JCVI), La Jolla, CA, USA. 155Department of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria. 156Department of Pediatrics and Center of Applied Genomics, First Faculty of Medicine, Charles University, Prague, Czech Republic. 157Center for Eating Disorders Ursula, Rivierduinen, Leiden, the Netherlands. 158Department of Psychiatry, Leiden University Medical Centre, Leiden, the Netherlands. 159Department of Child and Adolescent Psychiatry, Poznań University of Medical Sciences, Poznań, Poland. 160IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy. 161Department of Psychiatry and Biobehavioral Science, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA. 162David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. 163Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. 164Department of Environmental Epidemiology, Nofer Institute of Occupational Medicine, Lodz, Poland. 165Department of Psychiatry, University of Naples SUN, Naples, Italy. 166Department of Psychiatry, University of Perugia, Perugia, Italy. 167Brain Sciences Department, Stremble Ventures, Limassol, Cyprus. 168Adolescent Health Unit, Second Department of Pediatrics, ‘P. & A. Kyriakou’ Children’s Hospital, University of Athens, Athens, Greece. 169Pediatric Intensive Care Unit, ‘P. & A. Kyriakou’ Children’s Hospital, University of Athens, Athens, Greece. 170Faculty of Social and Behavioral Sciences, Utrecht University, Utrecht, the Netherlands. 171School of Psychology, Flinders University, Adelaide, South Australia, Australia. 172Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. 173Department of Psychiatry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. 174Toronto General Hospital, Toronto, Ontario, Canada. 175Institute of Translational Genomics, Helmholtz Zentrum München, Neuherberg, Germany. 176Department of Internal Medicine VI, Psychosomatic Medicine and Psychotherapy, University Medical Hospital Tübingen, Tübingen, Germany International Headache Genetics Consortium Verneri Anttila177, Ville Artto178, Andrea Carmine Belin179, Irene de Boer180, Dorret I. Boomsma181, Sigrid Børte182, Daniel I. Chasman183, Lynn Cherkas184, Anne Francke Christensen185, Bru Cormand186, Ester Cuenca-Leon177, George Davey-Smith187, Martin Dichgans188, Cornelia van Duijn189, Tonu Esko57, Ann Louise Esserlind190, Michel Ferrari180, Rune R. Frants180, Tobias Freilinger191, Nick Furlotte192, Padhraig Gormley177, Lyn Griffiths193, Eija Hamalainen194, Thomas Folkmann Hansen6, Marjo Hiekkala195, M. Arfan Ikram189, Andres Ingason196, Marjo-Riitta Järvelin197, Risto Kajanne194, Mikko Kallela178, Jaakko Kaprio98,99, Mari Kaunisto195, Lisette J. A. Kogelman6, Christian Kubisch198, Mitja Kurki177, Tobias Kurth199, Lenore Launer200, Terho Lehtimaki201, Davor Lessel198, Lannie Ligthart181, Nadia Litterman192, Arn van den Maagdenberg180, Alfons Macaya202, Rainer Malik188, Massimo Mangino184, George McMahon187, Bertram Muller-Myhsok203, Benjamin M. Neale177, Carrie Northover192, Dale R. Nyholt193, Jes Olesen190, Aarno Palotie58,99,137, Priit Palta194, Linda Pedersen182, Nancy Pedersen1, Danielle Posthuma181, Patricia Pozo-Rosich204, Alice Pressman205, Olli Raitakari206, Markus Schürks199, Celia Sintas186, Kari Stefansson196, Hreinn Stefansson196, Stacy Steinberg196, David Strachan207, Gisela Terwindt180, Marta Vila-Pueyo202, Maija Wessman195, Bendik S. Winsvold182, Huiying Zhao193 and John Anker Zwart182 177Broad Institute of MIT and Harvard, Cambridge, MA, USA. 178Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland. 179Karolinska Institutet, Stockholm, Sweden. 180Leiden University Medical Centre, Leiden, the Netherlands. 181VU University, Amsterdam, the Netherlands. 182Oslo University Hospital and University of Oslo, Oslo, Norway. 183Harvard Medical School, Cambridge, MA, USA. 184Department of Twin Research and Genetic Epidemiology, King’s College London, London, UK. 185Danish Headache Center, Copenhagen University Hospital, Copenhagen, Denmark. 186University of Barcelona, Barcelona, Spain. 187Medical Research Council (MRC) Integrative Epidemiology Unit, University of Bristol, Bristol, UK. 188Institute for Stroke and Dementia Research, Munich, Germany. 189Erasmus University Medical Centre, Rotterdam, the Netherlands. 190Danish Headache Center, Department of Neurology, Rigshospitalet, Glostrup, Denmark. 191University of Tübingen, Tübingen, Germany. 19223&Me Inc., Mountain View, CA, USA. 193Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia. 194Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. 195Folkhälsan Institute of Genetics, Helsinki, Finland. 196Decode genetics Inc., Reykjavik, Iceland. 197University of Oulu, Biocenter Oulu, Finland. 198University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 199Harvard Medical School, Boston, MA, USA. 200National Institute on Aging, Bethesda, MD, USA. 201School of Medicine, University of Tampere, Tampere, Finland. 202Vall d’Hebron Research Institute, Barcelona, Spain. 203Max Planck Institute of Psychiatry, Munich, Germany. 204Headache Research Group, Universitat Autònoma de Barcelona, Barcelona, Spain. 205Sutter Health, Sacramento, CA, USA. 206Department of Medicine, University of Turku, Turku, Finland. 207Population Health Research Institute, St George’s University of London, London, UK. 23andMe Research Team Michelle Agee208, Babak Alipanahi208, Adam Auton208, Robert Bell208, Katarzyna Bryc208, Sarah Elson208, Pierre Fontanillas208, Nicholas Furlotte208, Karl Heilbron208, David Hinds208, Karen Huber208, Aaron Kleinman208, Nadia Litterman208, Jennifer McCreight208, Matthew McIntyre208, Joanna Mountain208, Elizabeth Noblin208, Carrie Northover208, Steven Pitts208, J. Sathirapongsasuti208, Olga Sazonova208, Janie Shelton208, Suyash Shringarpure208, Chao Tian208, Joyce Tung208, Vladimir Vacic208 and Catherine Wilson208 20823andMe, Inc., Mountain View, CA, US
Published: 2020

33. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Author: Tabassum, R. (Rubina), Ramo, J. T. (Joel T.), Ripatti, P. (Pietari), Koskela, J. T. (Jukka T.), Kurki, M. (Mitja), Karjalainen, J. (Juha), Palta, P. (Priit), Hassan, S. (Shabbeer), Nunez-Fontarnau, J. (Javier), Kiiskinen, T. T. (Tuomo T. J.), Soderlund, S. (Sanni), Matikainen, N. (Niina), Gerl, M. J. (Mathias J.), Surma, M. A. (Michal A.), Klose, C. (Christian), Stitziel, N. O. (Nathan O.), Laivuori, H. (Hannele), Havulinna, A. S. (Aki S.), Service, S. K. (Susan K.), Salomaa, V. (Veikko), Pirinen, M. (Matti), Jauhiainen, M. (Matti), Daly, M. J. (Mark J.), Freimer, N. B. (Nelson B.), Palotie, A. (Aarno), Taskinen, M.-R. (Marja-Riitta), Simons, K. (Kai), Ripatti, S. (Samuli), Jalanko, A. (Anu), Kaprio, J. (Jaakko), Donner, K. (Kati), Kaunisto, M. (Mari), Mars, N. (Nina), Dada, A. (Alexander), Shcherban, A. (Anastasia), Ganna, A. (Andrea), Lehisto, A. (Arto), Kilpelainen, E. (Elina), Brein, G. (Georg), Awaisa, G. (Ghazal), Harju, J. (Jarmo), Parr, K. (Kalle), Parolo, P. D. (Pietro Della Briotta), Kajanne, R. (Risto), Lemmela, S. (Susanna), Sipila, T. P. (Timo P.), Sipila, T. (Tuomas), Lyhs, U. (Ulrike), Llorens, V. (Vincent), Niiranen, T. (Teemu), Kristiansson, K. (Kati), Mannikko, L. (Lotta), Jimenez, M. G. (Manuel Gonzalez), Perola, M. (Markus), Wong, R. (Regis), Kilpi, T. (Terhi), Hiekkalinna, T. (Tero), Jarvensivu, E. (Elina), Kaiharju, E. (Essi), Mattsson, H. (Hannele), Laukkanen, M. (Markku), Laiho, P. (Paivi), Lahteenmaki, S. (Sini), Sistonen, T. (Tuuli), Soini, S. (Sirpa), Ziemann, A. (Adam), Lehtonen, A. (Anne), Lertratanakul, A. (Apinya), Georgantas, B. (Bob), Riley-Gillis, B. (Bridget), Quarless, D. (Danjuma), Rahimov, F. (Fedik), Heap, G. (Graham), Jacob, H. (Howard), Waring, J. (Jeffrey), Davis, J. W. (Justin Wade), Smaoui, N. (Nizar), Popovic, R. (Relja), Esmaeeli, S. (Sahar), Waring, J. (Jeff), Matakidou, A. (Athena), Challis, B. (Ben), Close, D. (David), Petrovski, S. (Slave), Karlsson, A. (Antti), Schleutker, J. (Johanna), Pulkki, K. (Kari), Virolainen, P. (Petri), Kallio, L. (Lila), Mannermaa, A. (Arto), Heikkinen, S. (Sami), Kosma, V.-M. (Veli-Matti), Chen, C.-Y. (Chia-Yen), Runz, H. (Heiko), Liu, J. (Jimmy), Bronson, P. (Paola), John, S. (Sally), Landenpera, S. (Sanni), Eaton, S. (Susan), Zhou, W. (Wei), Hendolin, M. (Minna), Tuovila, O. (Outi), Pakkanen, R. (Raimo), Maranville, J. (Joseph), Usiskin, K. (Keith), Hochfeld, M. (Marla), Plenge, R. (Robert), Yang, R. (Robert), Biswas, S. (Shameek), Greenberg, S. (Steven), Laakkonen, E. (Eija), Kononen, J. (Juha), Paloneva, J. (Juha), Kujala, U. (Urho), Kuopio, T. (Teijo), Laukkanen, J. (Jari), Kangasniemi, E. (Eeva), Savinainen, K. (Kimmo), Laaksonen, R. (Reijo), Arvas, M. (Mikko), Ritari, J. (Jarmo), Partanen, J. (Jukka), Hyvarinen, K. (Kati), Wahlfors, T. (Tiina), Peterson, A. (Andrew), Oh, D. (Danny), Chang, D. (Diana), Teng, E. (Edmond), Strauss, E. (Erich), Kerchner, G. (Geoff), Chen, H. (Hao), Chen, H. (Hubert), Schutzman, J. (Jennifer), Michon, J. (John), Hunkapiller, J. (Julie), McCarthy, M. (Mark), Bowers, N. (Natalie), Lu, T. (Tim), Bhangale, T. (Tushar), Pulford, D. (David), Waterworth, D. (Dawn), Kulkarni, D. (Diptee), Xu, F. (Fanli), Betts, J. (Jo), Gordillo, J. E. (Jorge Esparza), Hoffman, J. (Joshua), Auro, K. (Kirsi), McCarthy, L. (Linda), Ghosh, S. (Soumitra), Ehm, M. (Meg), Pitkanen, K. (Kimmo), Makela, T. (Tomi), Loukola, A. (Anu), Joensuu, H. (Heikki), Sinisalo, J. (Juha), Eklund, K. (Kari), Aaltonen, L. (Lauri), Farkkila, M. (Martti), Carpen, O. (Olli), Kauppi, P. (Paula), Tienari, P. (Pentti), Ollila, T. (Terhi), Tuomi, T. (Tiinamaija), Meretoja, T. (Tuomo), Pitkaranta, A. (Anne), Turunen, J. (Joni), Hannula-Jouppi, K. (Katariina), Pikkarainen, S. (Sampsa), Seitsonen, S. (Sanna), Koskinen, M. (Miika), Palomaki, A. (Antti), Rinne, J. (Juha), Metsarinne, K. (Kaj), Elenius, K. (Klaus), Pirila, L. (Laura), Koulu, L. (Leena), Voutilainen, M. (Markku), Juonala, M. (Markus), Peltonen, S. (Sirkku), Aaltonen, V. (Vesa), Loboda, A. (Andrey), Podgornaia, A. (Anna), Chhibber, A. (Aparna), Chu, A. (Audrey), Fox, C. (Caroline), Diogo, D. (Dorothee), Holzinger, E. (Emily), Eicher, J. (John), Gormley, P. (Padhraig), Mehta, V. (Vinay), Wang, X. (Xulong), Kettunen, J. (Johannes), Pylkas, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Hinttala, R. (Reetta), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Mantere, T. (Tuomo), Remes, A. (Anne), Huhtakangas, J. (Johanna), Junttila, J. (Juhani), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Luodonpaa, M. (Marja), Hautala, N. (Nina), Karihtala, P. (Peeter), Kauppila, S. (Saila), Harju, T. (Terttu), Blomster, T. (Timo), Soininen, H. (Hilkka), Harvima, I. (Ilkka), Pihlajamaki, J. (Jussi), Kaarniranta, K. (Kai), Pelkonen, M. (Margit), Laakso, M. (Markku), Hiltunen, M. (Mikko), Kiviniemi, M. (Mikko), Kaipiainen-Seppanen, O. (Oili), Auvinen, P. (Paivi), Kalviainen, R. (Reetta), Julkunen, V. (Valtteri), Malarstig, A. (Anders), Hedman, A. (Asa), Marshal, C. (Catherine), Whelan, C. (Christopher), Lehtonen, H. (Heli), Parkkinen, J. (Jaakko), Linden, K. (Kari), Kalpala, K. (Kirsi), Miller, M. (Melissa), Bing, N. (Nan), McDonough, S. (Stefan), Chen, X. (Xing), Hu, X. (Xinli), Wu, Y. (Ying), Auranen, A. (Annika), Jussila, A. (Airi), Uusitalo-Jarvinen, H. (Hannele), Kankaanranta, H. (Hannu), Uusitalo, H. (Hannu), Peltola, J. (Jukka), Kahonen, M. (Mika), Isomaki, P. (Pia), Laitinen, T. (Tarja), Salmi, T. (Teea), Muslin, A. (Anthony), Wang, C. (Clarence), Chatelain, C. (Clement), Xu, E. (Ethan), Auge, F. (Franck), Call, K. (Kathy), Klinger, K. (Kathy), Crohns, M. (Marika), Gossel, M. (Matthias), Palin, K. (Kimmo), Rivas, M. (Manuel), Siirtola, H. (Harri), and Tabuenca, J. G. (Javier Gracia)
Subjects: lipids (amino acids, peptides, and proteins)
Abstract: Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P
Published: 2019

34. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Author: Tabassum, R, Ramo, JT, Ripatti, P, Koskela, JT, Kurki, M, Karjalainen, J, Palta, P, Hassan, S, Nunez-Fontarnau, J, Kiiskinen, TTJ, Soderlund, S, Matikainen, N, Gerl, MJ, Surma, MA, Klose, C, Stitziel, NO, Laivuori, H, Havulinna, AS, Service, SK, Salomaa, V, Pirinen, M, Jauhiainen, M, Daly, MJ, Freimer, NB, Palotie, A, Taskinen, M-R, Simons, K, Ripatti, S, Jalanko, A, Kaprio, J, Donner, K, Kaunisto, M, Mars, N, Dada, A, Shcherban, A, Ganna, A, Lehisto, A, Kilpelainen, E, Brein, G, Awaisa, G, Harju, J, Parr, K, Parolo, PDB, Kajanne, R, Lemmela, S, Sipila, TP, Sipila, T, Lyhs, U, Llorens, V, Niiranen, T, Kristiansson, K, Mannikko, L, Jimenez, MG, Perola, M, Wong, R, Kilpi, T, Hiekkalinna, T, Jarvensivu, E, Kaiharju, E, Mattsson, H, Laukkanen, M, Laiho, P, Lahteenmaki, S, Sistonen, T, Soini, S, Ziemann, A, Lehtonen, A, Lertratanakul, A, Georgantas, B, Riley-Gillis, B, Quarless, D, Rahimov, F, Heap, G, Jacob, H, Waring, J, Davis, JW, Smaoui, N, Popovic, R, Esmaeeli, S, Matakidou, A, Challis, B, Close, D, Petrovski, S, Karlsson, A, Schleutker, J, Pulkki, K, Virolainen, P, Kallio, L, Mannermaa, A, Heikkinen, S, Kosma, V-M, Chen, C-Y, Runz, H, Liu, J, Bronson, P, John, S, Landenpera, S, Eaton, S, Zhou, W, Hendolin, M, Tuovila, O, Pakkanen, R, Maranville, J, Usiskin, K, Hochfeld, M, Plenge, R, Yang, R, Biswas, S, Greenberg, S, Laakkonen, E, Kononen, J, Paloneva, J, Kujala, U, Kuopio, T, Laukkanen, J, Kangasniemi, E, Savinainen, K, Laaksonen, R, Arvas, M, Ritari, J, Partanen, J, Hyvarinen, K, Wahlfors, T, Peterson, A, Oh, D, Chang, D, Teng, E, Strauss, E, Kerchner, G, Chen, H, Schutzman, J, Michon, J, Hunkapiller, J, McCarthy, M, Bowers, N, Lu, T, Bhangale, T, Pulford, D, Waterworth, D, Kulkarni, D, Xu, F, Betts, J, Gordillo, JE, Hoffman, J, Auro, K, McCarthy, L, Ghosh, S, Ehm, M, Pitkanen, K, Makela, T, Loukola, A, Joensuu, H, Sinisalo, J, Eklund, K, Aaltonen, L, Farkkila, M, Carpen, O, Kauppi, P, Tienari, P, Ollila, T, Tuomi, T, Meretoja, T, Pitkaranta, A, Turunen, J, Hannula-Jouppi, K, Pikkarainen, S, Seitsonen, S, Koskinen, M, Palomaki, A, Rinne, J, Metsarinne, K, Elenius, K, Pirila, L, Koulu, L, Voutilainen, M, Juonala, M, Peltonen, S, Aaltonen, V, Loboda, A, Podgornaia, A, Chhibber, A, Chu, A, Fox, C, Diogo, D, Holzinger, E, Eicher, J, Gormley, P, Mehta, V, Wang, X, Kettunen, J, Pylkas, K, Kalaoja, M, Karjalainen, M, Hinttala, R, Kaarteenaho, R, Vainio, S, Mantere, T, Remes, A, Huhtakangas, J, Junttila, J, Tasanen, K, Huilaja, L, Luodonpaa, M, Hautala, N, Karihtala, P, Kauppila, S, Harju, T, Blomster, T, Soininen, H, Harvima, I, Pihlajamaki, J, Kaarniranta, K, Pelkonen, M, Laakso, M, Hiltunen, M, Kiviniemi, M, Kaipiainen-Seppanen, O, Auvinen, P, Kalviainen, R, Julkunen, V, Malarstig, A, Hedman, A, Marshal, C, Whelan, C, Lehtonen, H, Parkkinen, J, Linden, K, Kalpala, K, Miller, M, Bing, N, McDonough, S, Chen, X, Hu, X, Wu, Y, Auranen, A, Jussila, A, Uusitalo-Jarvinen, H, Kankaanranta, H, Uusitalo, H, Peltola, J, Kahonen, M, Isomaki, P, Laitinen, T, Salmi, T, Muslin, A, Wang, C, Chatelain, C, Xu, E, Auge, F, Call, K, Klinger, K, Crohns, M, Gossel, M, Palin, K, Rivas, M, Siirtola, H, Tabuenca, JG, Tabassum, R, Ramo, JT, Ripatti, P, Koskela, JT, Kurki, M, Karjalainen, J, Palta, P, Hassan, S, Nunez-Fontarnau, J, Kiiskinen, TTJ, Soderlund, S, Matikainen, N, Gerl, MJ, Surma, MA, Klose, C, Stitziel, NO, Laivuori, H, Havulinna, AS, Service, SK, Salomaa, V, Pirinen, M, Jauhiainen, M, Daly, MJ, Freimer, NB, Palotie, A, Taskinen, M-R, Simons, K, Ripatti, S, Jalanko, A, Kaprio, J, Donner, K, Kaunisto, M, Mars, N, Dada, A, Shcherban, A, Ganna, A, Lehisto, A, Kilpelainen, E, Brein, G, Awaisa, G, Harju, J, Parr, K, Parolo, PDB, Kajanne, R, Lemmela, S, Sipila, TP, Sipila, T, Lyhs, U, Llorens, V, Niiranen, T, Kristiansson, K, Mannikko, L, Jimenez, MG, Perola, M, Wong, R, Kilpi, T, Hiekkalinna, T, Jarvensivu, E, Kaiharju, E, Mattsson, H, Laukkanen, M, Laiho, P, Lahteenmaki, S, Sistonen, T, Soini, S, Ziemann, A, Lehtonen, A, Lertratanakul, A, Georgantas, B, Riley-Gillis, B, Quarless, D, Rahimov, F, Heap, G, Jacob, H, Waring, J, Davis, JW, Smaoui, N, Popovic, R, Esmaeeli, S, Matakidou, A, Challis, B, Close, D, Petrovski, S, Karlsson, A, Schleutker, J, Pulkki, K, Virolainen, P, Kallio, L, Mannermaa, A, Heikkinen, S, Kosma, V-M, Chen, C-Y, Runz, H, Liu, J, Bronson, P, John, S, Landenpera, S, Eaton, S, Zhou, W, Hendolin, M, Tuovila, O, Pakkanen, R, Maranville, J, Usiskin, K, Hochfeld, M, Plenge, R, Yang, R, Biswas, S, Greenberg, S, Laakkonen, E, Kononen, J, Paloneva, J, Kujala, U, Kuopio, T, Laukkanen, J, Kangasniemi, E, Savinainen, K, Laaksonen, R, Arvas, M, Ritari, J, Partanen, J, Hyvarinen, K, Wahlfors, T, Peterson, A, Oh, D, Chang, D, Teng, E, Strauss, E, Kerchner, G, Chen, H, Schutzman, J, Michon, J, Hunkapiller, J, McCarthy, M, Bowers, N, Lu, T, Bhangale, T, Pulford, D, Waterworth, D, Kulkarni, D, Xu, F, Betts, J, Gordillo, JE, Hoffman, J, Auro, K, McCarthy, L, Ghosh, S, Ehm, M, Pitkanen, K, Makela, T, Loukola, A, Joensuu, H, Sinisalo, J, Eklund, K, Aaltonen, L, Farkkila, M, Carpen, O, Kauppi, P, Tienari, P, Ollila, T, Tuomi, T, Meretoja, T, Pitkaranta, A, Turunen, J, Hannula-Jouppi, K, Pikkarainen, S, Seitsonen, S, Koskinen, M, Palomaki, A, Rinne, J, Metsarinne, K, Elenius, K, Pirila, L, Koulu, L, Voutilainen, M, Juonala, M, Peltonen, S, Aaltonen, V, Loboda, A, Podgornaia, A, Chhibber, A, Chu, A, Fox, C, Diogo, D, Holzinger, E, Eicher, J, Gormley, P, Mehta, V, Wang, X, Kettunen, J, Pylkas, K, Kalaoja, M, Karjalainen, M, Hinttala, R, Kaarteenaho, R, Vainio, S, Mantere, T, Remes, A, Huhtakangas, J, Junttila, J, Tasanen, K, Huilaja, L, Luodonpaa, M, Hautala, N, Karihtala, P, Kauppila, S, Harju, T, Blomster, T, Soininen, H, Harvima, I, Pihlajamaki, J, Kaarniranta, K, Pelkonen, M, Laakso, M, Hiltunen, M, Kiviniemi, M, Kaipiainen-Seppanen, O, Auvinen, P, Kalviainen, R, Julkunen, V, Malarstig, A, Hedman, A, Marshal, C, Whelan, C, Lehtonen, H, Parkkinen, J, Linden, K, Kalpala, K, Miller, M, Bing, N, McDonough, S, Chen, X, Hu, X, Wu, Y, Auranen, A, Jussila, A, Uusitalo-Jarvinen, H, Kankaanranta, H, Uusitalo, H, Peltola, J, Kahonen, M, Isomaki, P, Laitinen, T, Salmi, T, Muslin, A, Wang, C, Chatelain, C, Xu, E, Auge, F, Call, K, Klinger, K, Crohns, M, Gossel, M, Palin, K, Rivas, M, Siirtola, H, and Tabuenca, JG
Abstract: Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10-8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
Published: 2019

35. Migraine polygenic risk score associates with efficacy of migraine-specific drugs

Author: Kogelman, L. J. (Lisette J. A.), Esserlind, A.-L. (Ann-Louise), Christensen, A. F. (Anne Francke), Awasthi, S. (Swapnil), Ripke, S. (Stephan), Ingason, A. (Andres), Davidsson, O. B. (Olafur B.), Erikstrup, C. (Christian), Hjalgrim, H. (Henrik), Ullum, H. (Henrik), Olesen, J. (Jes), Hansen, T. F. (Thomas Folkmann), Gudbjartsson, D. (Daniel), Gastafsson, O. (Omar), Stefansson, K. (Kari), Stefansson, H. (Hreinn), Porsteinsdottir, U. (Unnur), Andersen, S. (Steffen), Banasik, K. (Karina), Brunak, S. (Soren), Buil, A. (Alfonso), Burgdorf, K. (Kristoffer), Gregor, J. (Jemec), Jennum, P. (Poul), Nielsen, K. R. (Kasper Rene), Nyegaard, M. (Mette), Paarup, H. M. (Helene Mariana), Pedersen, O. B. (Ole Birger), Sorensen, E. (Erik), Werge, T. (Thomas), Anttila, V. (Verneri), Artto, V. (Ville), Belin, A. C. (Andrea Carmine), de Boer, I. (Irene), Boomsma, D. I. (Dorret, I), Borte, S. (Sigrid), Chasman, D. I. (Daniel, I), Cherkas, L. (Lynn), Cormand, B. (Bru), Cuenca-Leon, E. (Ester), Davey-Smith, G. (George), Dichgans, M. (Martin), van Duijn, C. (Cornelia), Esko, T. (Tonu), Ferrari, M. (Michel), Frants, R. R. (Rune R.), Freilinger, T. (Tobias), Furlotte, N. (Nick), Gormley, P. (Padhraig), Griffiths, L. (Lyn), Hamalainen, E. (Eija), Hiekkala, M. (Marjo), Ikram, M. A. (M. Arfan), Järvelin, M.-R. (Marjo-Riitta), Kajanne, R. (Risto), Kallela, M. (Mikko), Kaprio, J. (Jaakko), Kaunisto, M. (Mari), Kubisch, C. (Christian), Kurki, M. (Mitja), Kurth, T. (Tobias), Launer, L. (Lenore), Lehtimaki, T. (Terho), Lessel, D. (Davor), Ligthart, L. (Lannie), Litterman, N. (Nadia), van den Maagdenberg, A. (Arn), Macaya, A. (Alfons), Malik, R. (Rainer), Mangino, M. (Massimo), McMahon, G. (George), Muller-Myhsok, B. (Bertram), Neale, B. M. (Benjamin M.), Northover, C. (Carrie), Nyholt, D. R. (Dale R.), Palotie, A. (Aarno), Palta, P. (Priit), Pedersen, L. (Linda), Pedersen, N. (Nancy), Posthuma, D. (Danielle), Pozo-Rosich, P. (Patricia), Pressman, A. (Alice), Raitakari, O. (Olli), Schurks, M. (Markus), Sintas, C. (Celia), Steinberg, S. (Stacy), Strachan, D. (David), Terwindt, G. (Gisela), Vila-Pueyo, M. (Marta), Wessman, M. (Maija), Winsvold, B. S. (Bendik S.), Zhao, H. (Huiying), Zwart, J.-A. (John-Anker), Kogelman, L. J. (Lisette J. A.), Esserlind, A.-L. (Ann-Louise), Christensen, A. F. (Anne Francke), Awasthi, S. (Swapnil), Ripke, S. (Stephan), Ingason, A. (Andres), Davidsson, O. B. (Olafur B.), Erikstrup, C. (Christian), Hjalgrim, H. (Henrik), Ullum, H. (Henrik), Olesen, J. (Jes), Hansen, T. F. (Thomas Folkmann), Gudbjartsson, D. (Daniel), Gastafsson, O. (Omar), Stefansson, K. (Kari), Stefansson, H. (Hreinn), Porsteinsdottir, U. (Unnur), Andersen, S. (Steffen), Banasik, K. (Karina), Brunak, S. (Soren), Buil, A. (Alfonso), Burgdorf, K. (Kristoffer), Gregor, J. (Jemec), Jennum, P. (Poul), Nielsen, K. R. (Kasper Rene), Nyegaard, M. (Mette), Paarup, H. M. (Helene Mariana), Pedersen, O. B. (Ole Birger), Sorensen, E. (Erik), Werge, T. (Thomas), Anttila, V. (Verneri), Artto, V. (Ville), Belin, A. C. (Andrea Carmine), de Boer, I. (Irene), Boomsma, D. I. (Dorret, I), Borte, S. (Sigrid), Chasman, D. I. (Daniel, I), Cherkas, L. (Lynn), Cormand, B. (Bru), Cuenca-Leon, E. (Ester), Davey-Smith, G. (George), Dichgans, M. (Martin), van Duijn, C. (Cornelia), Esko, T. (Tonu), Ferrari, M. (Michel), Frants, R. R. (Rune R.), Freilinger, T. (Tobias), Furlotte, N. (Nick), Gormley, P. (Padhraig), Griffiths, L. (Lyn), Hamalainen, E. (Eija), Hiekkala, M. (Marjo), Ikram, M. A. (M. Arfan), Järvelin, M.-R. (Marjo-Riitta), Kajanne, R. (Risto), Kallela, M. (Mikko), Kaprio, J. (Jaakko), Kaunisto, M. (Mari), Kubisch, C. (Christian), Kurki, M. (Mitja), Kurth, T. (Tobias), Launer, L. (Lenore), Lehtimaki, T. (Terho), Lessel, D. (Davor), Ligthart, L. (Lannie), Litterman, N. (Nadia), van den Maagdenberg, A. (Arn), Macaya, A. (Alfons), Malik, R. (Rainer), Mangino, M. (Massimo), McMahon, G. (George), Muller-Myhsok, B. (Bertram), Neale, B. M. (Benjamin M.), Northover, C. (Carrie), Nyholt, D. R. (Dale R.), Palotie, A. (Aarno), Palta, P. (Priit), Pedersen, L. (Linda), Pedersen, N. (Nancy), Posthuma, D. (Danielle), Pozo-Rosich, P. (Patricia), Pressman, A. (Alice), Raitakari, O. (Olli), Schurks, M. (Markus), Sintas, C. (Celia), Steinberg, S. (Stacy), Strachan, D. (David), Terwindt, G. (Gisela), Vila-Pueyo, M. (Marta), Wessman, M. (Maija), Winsvold, B. S. (Bendik S.), Zhao, H. (Huiying), and Zwart, J.-A. (John-Anker)
Abstract: Objective: To assess whether the polygenic risk score (PRS) for migraine is associated with acute and/or prophylactic migraine treatment response. Methods: We interviewed 2,219 unrelated patients at the Danish Headache Center using a semistructured interview to diagnose migraine and assess acute and prophylactic drug response. All patients were genotyped. A PRS was calculated with the linkage disequilibrium pred algorithm using summary statistics from the most recent migraine genome-wide association study comprising ∼375,000 cases and controls. The PRS was scaled to a unit corresponding to a twofold increase in migraine risk, using 929 unrelated Danish controls as reference. The association of the PRS with treatment response was assessed by logistic regression, and the predictive power of the model by area under the curve using a case-control design with treatment response as outcome. Results: A twofold increase in migraine risk associates with positive response to migraine-specific acute treatment (odds ratio [OR] = 1.25 [95% confidence interval (CI) = 1.05–1.49]). The association between migraine risk and migraine-specific acute treatment was replicated in an independent cohort consisting of 5,616 triptan users with prescription history (OR = 3.20 [95% CI = 1.26–8.14]). No association was found for acute treatment with non–migraine-specific weak analgesics and prophylactic treatment response. Conclusions: The migraine PRS can significantly identify subgroups of patients with a higher-than-average likelihood of a positive response to triptans, which provides a first step toward genetics-based precision medicine in migraine.
Published: 2019

36. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Author: Kurki, M. I. (Mitja I.), Saarentaus, E. (Elmo), Pietiläinen, O. (Olli), Gormley, P. (Padhraig), Lal, D. (Dennis), Kerminen, S. (Sini), Torniainen-Holm, M. (Minna), Hämäläinen, E. (Eija), Rahikkala, E. (Elisa), Keski-Filppula, R. (Riikka), Rauhala, M. (Merja), Korpi-Heikkilä, S. (Satu), Komulainen–Ebrahim, J. (Jonna), Helander, H. (Heli), Vieira, P. (Päivi), Männikkö, M. (Minna), Peltonen, M. (Markku), Havulinna, A. S. (Aki S.), Salomaa, V. (Veikko), Pirinen, M. (Matti), Suvisaari, J. (Jaana), Moilanen, J. S. (Jukka S.), Körkkö, J. (Jarmo), Kuismin, O. (Outi), Daly, M. J. (Mark J.), Palotie, A. (Aarno), Kurki, M. I. (Mitja I.), Saarentaus, E. (Elmo), Pietiläinen, O. (Olli), Gormley, P. (Padhraig), Lal, D. (Dennis), Kerminen, S. (Sini), Torniainen-Holm, M. (Minna), Hämäläinen, E. (Eija), Rahikkala, E. (Elisa), Keski-Filppula, R. (Riikka), Rauhala, M. (Merja), Korpi-Heikkilä, S. (Satu), Komulainen–Ebrahim, J. (Jonna), Helander, H. (Heli), Vieira, P. (Päivi), Männikkö, M. (Minna), Peltonen, M. (Markku), Havulinna, A. S. (Aki S.), Salomaa, V. (Veikko), Pirinen, M. (Matti), Suvisaari, J. (Jaana), Moilanen, J. S. (Jukka S.), Körkkö, J. (Jarmo), Kuismin, O. (Outi), Daly, M. J. (Mark J.), and Palotie, A. (Aarno)
Abstract: The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriched for mild ID (>50%) from a population isolate of Finland. Using exome sequencing, we show that rare damaging variants in known ID genes are observed significantly more often in severe (27%) than in mild ID (13%) patients. We further observe a significant enrichment of functional variants in genes not yet associated with ID (OR: 2.1). We show that a common variant polygenic risk significantly contributes to ID. The heritability explained by polygenic risk score is the highest for educational attainment (EDU) in mild ID (2.2%) but lower for more severe ID (0.6%). Finally, we identify a Finland enriched homozygote variant in the CRADD ID associated gene.
Published: 2019

37. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Author: Rahikkala, E. (Elisa), Myllykoski, M. (Matti), Hinttala, R. (Reetta), Vieira, P. (Päivi), Nayebzadeh, N. (Naemeh), Weiss, S. (Simone), Plomp, A. S. (Astrid S.), Bittner, R. E. (Reginald E.), Kurki, M. I. (Mitja I.), Kuismin, O. (Outi), Lewis, A. M. (Andrea M.), Väisänen, M.-L. (Marja-Leena), Kokkonen, H. (Hannaleena), Westermann, J. (Jonne), Bernert, G. (Günther), Tuominen, H. (Hannu), Palotie, A. (Aarno), Aaltone, L. (Lauri), Yang, Y. (Yaping), Potocki, L. (Lorraine), Moilanen, J. (Jukka), van Koningsbruggen, S. (Silvana), Wang, X. (Xia), Schmidt, W. M. (Wolfgang M.), Koivunen, P. (Peppi), Uusimaa, J. (Johanna), Rahikkala, E. (Elisa), Myllykoski, M. (Matti), Hinttala, R. (Reetta), Vieira, P. (Päivi), Nayebzadeh, N. (Naemeh), Weiss, S. (Simone), Plomp, A. S. (Astrid S.), Bittner, R. E. (Reginald E.), Kurki, M. I. (Mitja I.), Kuismin, O. (Outi), Lewis, A. M. (Andrea M.), Väisänen, M.-L. (Marja-Leena), Kokkonen, H. (Hannaleena), Westermann, J. (Jonne), Bernert, G. (Günther), Tuominen, H. (Hannu), Palotie, A. (Aarno), Aaltone, L. (Lauri), Yang, Y. (Yaping), Potocki, L. (Lorraine), Moilanen, J. (Jukka), van Koningsbruggen, S. (Silvana), Wang, X. (Xia), Schmidt, W. M. (Wolfgang M.), Koivunen, P. (Peppi), and Uusimaa, J. (Johanna)
Abstract: Purpose: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive. Methods: International collaboration and exome sequencing were used to identify new patients with HIDEA and biallelic, potentially pathogenic, P4HTM variants. Segregation analysis was performed using Sanger sequencing. P4H-TM wild-type and variant constructs without the transmembrane region were overexpressed in insect cells and analyzed using sodium dodecyl sulfate–polyacrylamide gel electrophoresis and western blot. Results: Five different homozygous or compound heterozygous pathogenic P4HTM gene variants were identified in six new and six previously published patients presenting with HIDEA. Hypoventilation, obstructive and central sleep apnea, and dysautonomia were identified as novel features associated with the phenotype. Characterization of three of the P4H-TM variants demonstrated yielding insoluble protein products and, thus, loss-of-function. Conclusions: Biallelic loss-of-function P4HTM variants were shown to cause HIDEA syndrome. Our findings enable diagnosis of the condition, and highlight the importance of assessing the need for noninvasive ventilatory support in patients.
Published: 2019

38. Prevalence of schizophrenia in idiopathic normal pressure hydrocephalus

Author: Vanhala, V. (Vasco), Junkkari, A. (Antti), Korhonen, V. E. (Ville E.), Kurki, M. I. (Mitja I.), Hiltunen, M. (Mikko), Rauramaa, T. (Tuomas), Nerg, O. (Ossi), Koivisto, A. M. (Anne M.), Remes, A. M. (Anne M.), Perälä, J. (Jonna), Suvisaari, J. (Jaana), Lehto, S. M. (Soili M.), Viinamäki, H. (Heimo), Soininen, H. (Hilkka), Jääskeläinen, J. E. (Juha E.), Leinonen, V. (Ville), Vanhala, V. (Vasco), Junkkari, A. (Antti), Korhonen, V. E. (Ville E.), Kurki, M. I. (Mitja I.), Hiltunen, M. (Mikko), Rauramaa, T. (Tuomas), Nerg, O. (Ossi), Koivisto, A. M. (Anne M.), Remes, A. M. (Anne M.), Perälä, J. (Jonna), Suvisaari, J. (Jaana), Lehto, S. M. (Soili M.), Viinamäki, H. (Heimo), Soininen, H. (Hilkka), Jääskeläinen, J. E. (Juha E.), and Leinonen, V. (Ville)
Abstract: Background: Idiopathic normal pressure hydrocephalus (iNPH) is a progressive and potentially treatable neurodegenerative disease affecting elderly people, characterized by gait impairment and ventricular enlargement in brain imaging. Similar findings are seen in some patients with schizophrenia (SCZ). Objective: To determine the prevalence of SCZ among patients suffering from probable or possible iNPH and the specific effects of comorbid SCZ on the outcome of the cerebrospinal fluid (CSF) shunting. Methods: All medical records of the 521 iNPH patients in the NPH registry were retrospectively analyzed from 1991 until 2017. The prevalence of comorbidity of SCZ was determined and compared to that of general aged (≥65 yr) population in Finland. Results: We identified a total of 16 (3.1%) iNPH patients suffering from comorbid SCZ. The prevalence of SCZ among the iNPH patients was significantly higher compared to the general population (3.1% vs 0.9%, P < .001). All iNPH patients with comorbid SCZ were CSF shunted and 12 (75%) had a clinically verified shunt response 3 to 12 mo after the procedure. The CSF shunt response rate did not differ between patients with and without comorbid SCZ. Conclusion: SCZ seems to occur 3 times more frequently among iNPH patients compared to the general aged population in Finland. The outcome of the treatment was not affected by comorbid SCZ and therefore iNPH patients suffering from comorbid SCZ should not be left untreated. These results merit validation in other populations. In addition, further research towards the potential connection between these chronic conditions is warranted.
Published: 2019

39. Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Author: Kaasinen, E. (Eevi), Kuismin, O. (Outi), Rajamäki, K. (Kristiina), Ristolainen, H. (Heikki), Aavikko, M. (Mervi), Kondelin, J. (Johanna), Saarinen, S. (Silva), Berta, D. G. (Davide G.), Katainen, R. (Riku), Hirvonen, E. A. (Elina A. M.), Karhu, A. (Auli), Taira, A. (Aurora), Tanskanen, T. (Tomas), Alkodsi, A. (Amjad), Taipale, M. (Minna), Morgunova, E. (Ekaterina), Franssila, K. (Kaarle), Lehtonen, R. (Rainer), Mäkinen, M. (Markus), Aittomäki, K. (Kristiina), Palotie, A. (Aarno), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Hilpert, M. (Morgane), Saarentaus, E. (Elmo), Niinimäki, J. (Jaakko), Junttila, J. (Juhani), Kaikkonen, K. (Kari), Vahteristo, P. (Pia), Skoda, R. C. (Radek C.), Seppänen, M. R. (Mikko R. J.), Eklund, K. K. (Kari K.), Taipale, J. (Jussi), Kilpivaara, O. (Outi), Aaltonen, L. A. (Lauri A.), Kaasinen, E. (Eevi), Kuismin, O. (Outi), Rajamäki, K. (Kristiina), Ristolainen, H. (Heikki), Aavikko, M. (Mervi), Kondelin, J. (Johanna), Saarinen, S. (Silva), Berta, D. G. (Davide G.), Katainen, R. (Riku), Hirvonen, E. A. (Elina A. M.), Karhu, A. (Auli), Taira, A. (Aurora), Tanskanen, T. (Tomas), Alkodsi, A. (Amjad), Taipale, M. (Minna), Morgunova, E. (Ekaterina), Franssila, K. (Kaarle), Lehtonen, R. (Rainer), Mäkinen, M. (Markus), Aittomäki, K. (Kristiina), Palotie, A. (Aarno), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Hilpert, M. (Morgane), Saarentaus, E. (Elmo), Niinimäki, J. (Jaakko), Junttila, J. (Juhani), Kaikkonen, K. (Kari), Vahteristo, P. (Pia), Skoda, R. C. (Radek C.), Seppänen, M. R. (Mikko R. J.), Eklund, K. K. (Kari K.), Taipale, J. (Jussi), Kilpivaara, O. (Outi), and Aaltonen, L. A. (Lauri A.)
Abstract: Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymphoma family. We observe neither unusual predisposition to atherosclerosis nor abnormal pro-inflammatory cytokine or chemokine expression. The latter finding is confirmed in cells from three additional unrelated TET2 germline mutation carriers. The TET2 defect elevates blood DNA methylation levels, especially at active enhancers and cell-type specific regulatory regions with binding sequences of master transcription factors involved in hematopoiesis. The regions display reduced methylation relative to all open chromatin regions in four DNMT3A germline mutation carriers, potentially due to TET2-mediated oxidation. Our findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
Published: 2019

40. Genetics of human plasma lipidome and its link to diseases susceptibility

Author: Aarno Palotie, Hannele Laivuori, Christian Klose, Pietari Ripatti, T. FinnGen, Marja-Riitta Taskinen, Sanni Söderlund, Shabbeer Hassan, Veikko Salomaa, Nathan O. Stitziel, N Freimer, Juha Karjalainen, Kai Simons, Matti Pirinen, Rubina Tabassum, Tuomo Kiiskinen, Priit Palta, Jukka Koskela, Javier Nunez-Fontarnau, Kurki M, Mark J. Daly, Aki S. Havulinna, Michal A. Surma, Niina Matikainen, Matti Jauhiainen, Samuli Ripatti, Joel T. Rämö, and M.J. Gerl
Subjects: Genetics, 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Human plasma, 030204 cardiovascular system & hematology, Biology, Lipidome, Cardiology and Cardiovascular Medicine, 030304 developmental biology
Published: 2019

41. Genetics of human plasma lipidome and its link to diseases susceptibility

Author: Tabassum, R., primary, Rämö, J.T., additional, Ripatti, P., additional, Koskela, J.T., additional, Kurki, M., additional, Karjalainen, J., additional, Palta, P., additional, Hassan, S., additional, Nunez-Fontarnau, J., additional, Kiiskinen, T.T.J., additional, Söderlund, S., additional, Matikainen, N., additional, Gerl, M.J., additional, Surma, M.A., additional, Klose, C., additional, Stitziel, N.O., additional, Laivuori, H., additional, Havulinna, A.S., additional, Service, S.K., additional, Salomaa, V., additional, Pirinen, M., additional, FinnGen Project, T., additional, Jauhiainen, M., additional, Daly, M.J., additional, Freimer, N., additional, Palotie, A., additional, Taskinen, M.R., additional, Simons, K., additional, and Ripatti, S., additional
Published: 2019
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42. New amylase assay for thermo scientific indiko and konelab clinical chemistry analyzers

Author: Kurki, M., primary, Kivi, N., additional, Virtanen, L., additional, and Otama, L., additional
Published: 2019
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43. New cholinesterase assay for Thermo Scientific Indiko and Konelab clinical chemistry analyzers

Author: Kivi, N., primary, Kurki, M., additional, Holopainen, M., additional, Karppelin, M., additional, Riistama-Laari, S., additional, and Otama, L., additional
Published: 2019
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44. HIERARCHICAL ON-LINE DIAGNOSIS SYSTEM FOR POWER PLANTS

Author: Majanne, Y., primary, Ruokonen, T., additional, Kurki, M., additional, and Ala-Siuru, P., additional
Published: 1992
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45. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Author: Williams, SM, Rivas, MA, Avila, BE, Koskela, J, Huang, H, Stevens, C, Pirinen, M, Haritunians, T, Neale, BM, Kurki, M, Ganna, A, Graham, D, Glaser, B, Peter, I, Atzmon, G, Barzilai, N, Levine, AP, Schiff, E, Pontikos, N, Weisburd, B, Lek, M, Karczewski, KJ, Bloom, J, Minikel, EV, Petersen, B-S, Beaugerie, L, Seksik, P, Cosnes, J, Schreiber, S, Bokemeyer, B, Bethge, J, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap, G, Ahmad, T, Plagnol, V, Segal, AW, Targan, S, Turner, D, Saavalainen, P, Farkkila, M, Kontula, K, Palotie, A, Brant, SR, Duerr, RH, Silverberg, MS, Rioux, JD, Weersma, RK, Franke, A, Jostins, L, Anderson, CA, Barrett, JC, MacArthur, DG, Jalas, C, Sokol, H, Xavier, RJ, Pulver, A, Cho, JH, McGovern, DPB, Daly, MJ, Williams, SM, Rivas, MA, Avila, BE, Koskela, J, Huang, H, Stevens, C, Pirinen, M, Haritunians, T, Neale, BM, Kurki, M, Ganna, A, Graham, D, Glaser, B, Peter, I, Atzmon, G, Barzilai, N, Levine, AP, Schiff, E, Pontikos, N, Weisburd, B, Lek, M, Karczewski, KJ, Bloom, J, Minikel, EV, Petersen, B-S, Beaugerie, L, Seksik, P, Cosnes, J, Schreiber, S, Bokemeyer, B, Bethge, J, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap, G, Ahmad, T, Plagnol, V, Segal, AW, Targan, S, Turner, D, Saavalainen, P, Farkkila, M, Kontula, K, Palotie, A, Brant, SR, Duerr, RH, Silverberg, MS, Rioux, JD, Weersma, RK, Franke, A, Jostins, L, Anderson, CA, Barrett, JC, MacArthur, DG, Jalas, C, Sokol, H, Xavier, RJ, Pulver, A, Cho, JH, McGovern, DPB, and Daly, MJ
Abstract: As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0.2% are significantly more frequent (mean 15-fold) than their maximum frequency observed in other reference populations. Arising via a well-described founder effect approximately 30 generations ago, this catalog of enriched alleles can contribute to differences in genetic risk and overall prevalence of diseases between populations. As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10-100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment). We next sought to use this catalog, of well-established relevance to Mendelian disease, to explore Crohn's disease, a common disease with an estimated two to four-fold excess prevalence in AJ. We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel con
Published: 2018

46. Analysis of shared heritability in common disorders of the brain

Author: Anttila, V, Bulik-Sullivan, B, Finucane, H, Walters, R, Bras, J, Duncan, L, Escott-Price, V, Falcone, G, Gormley, P, Malik, R, Patsopoulos, N, Ripke, S, Wei, Z, Yu, D, Lee, P, Turley, P, Grenier-Boley, B, Chouraki, V, Kamatani, Y, Berr, C, Letenneur, L, Hannequin, D, Amouyel, P, Boland, A, Deleuze, J, Duron, E, Vardarajan, B, Reitz, C, Goate, A, Huentelman, M, Ilyas Kamboh, M, Larson, E, Rogaeva, E, George-Hyslop, P, Hakonarson, H, Kukull, W, Farrer, L, Barnes, L, Beach, T, Yesim Demirci, F, Head, E, Hulette, C, Jicha, G, Kauwe, J, Kaye, J, Leverenz, J, Levey, A, Lieberman, A, Pankratz, V, Poon, W, Quinn, J, Saykin, A, Schneider, L, Smith, A, Sonnen, J, Stern, R, Van Deerlin, V, Van Eldik, L, Harold, D, Russo, G, Rubinsztein, D, Bayer, A, Tsolaki, M, Proitsi, P, Fox, N, Hampel, H, Owen, M, Mead, S, Passmore, P, Morgan, K, Nöthen, M, Rossor, M, Lupton, M, Hoffmann, P, Kornhuber, J, Lawlor, B, Mcquillin, A, Al-Chalabi, A, Bis, J, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, Van Der Lee, S, De Jager, P, Geschwind, D, Riemenschneider, M, Riedel-Heller, S, Rotter, J, Ransmayr, G, Hyman, B, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, K, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, G, Freilinger, T, Ran, C, Gordon, S, Borck, G, Adams, H, Lehtimäki, T, Wedenoja, J, Buring, J, Schürks, M, Hrafnsdottir, M, Hottenga, J, Penninx, B, Artto, V, Kaunisto, M, Vepsäläinen, S, Martin, N, Montgomery, G, Kurki, M, Hämäläinen, E, Huang, H, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Göbel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, M, Belin, A, Van Den Maagdenberg, A, Zwart, J, Boomsma, D, Eriksson, N, Olesen, J, Chasman, D, Nyholt, D, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, C, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, T, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kälviäinen, R, Kunz, W, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, Mccormack, M, Møller, R, Molloy, A, Ng, P, Oliver, K, Privitera, M, Radtke, R, Ruppert, A, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, S, Smith, P, Sperling, M, Striano, P, Surges, R, Neil Thomas, G, Visscher, F, Whelan, C, Zara, F, Heinzen, E, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, H, Sharma, M, Ryten, M, Mok, K, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, W, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, V, Thornton, L, Huckins, L, William Rayner, N, Lewis, C, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, J, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, J, O'Toole, J, Trace, S, Davis, O, Helder, S, Ehrlich, S, Herpertz-Dahlmann, B, Danner, U, Van Elburg, A, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julia, A, Rabionet, R, Dick, D, Ripatti, S, Andreassen, O, Espeseth, T, Lundervold, A, Steen, V, Pinto, D, Scherer, S, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, K, Mitchell, J, Strober, M, Bergen, A, Kaye, W, Szatkiewicz, J, Cormand, B, Ramos-Quiroga, J, Sánchez-Mora, C, Ribasés, M, Casas, M, Hervas, A, Arranz, M, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, R, Banaschewski, T, Franke, B, Buitelaar, J, Vasquez, A, Doyle, A, Reif, A, Lesch, K, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, S, Dalsgaard, S, Børglum, A, Waldman, I, Wilmot, B, Molly, N, Bau, C, Crosbie, J, Schachar, R, Loo, S, Mcgough, J, Grevet, E, Medland, S, Robinson, E, Weiss, L, Bacchelli, E, Bailey, A, Bal, V, Battaglia, A, Betancur, C, Bolton, P, Cantor, R, Celestino-Soper, P, Dawson, G, De Rubeis, S, Duque, F, Green, A, Klauck, S, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, T, Thompson, R, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, Mcintosh, A, Bergen, S, Schalling, M, Jamain, S, Maaser, A, Fischer, S, Reinbold, C, Fullerton, J, Guzman-Parra, J, Mayoral, F, Schofield, P, Cichon, S, Mühleisen, T, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, P, Gershon, E, Rice, J, Potash, J, Zandi, P, Craddock, N, Nicol Ferrier, I, Alda, M, Rouleau, G, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, P, Cruceanu, C, Jones, I, Posthuma, D, Andlauer, T, Forstner, A, Streit, F, Baune, B, Air, T, Sinnamon, G, Wray, N, Macintyre, D, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, C, Hickie, I, Pergadia, M, Mehta, D, Smit, J, Jansen, R, De Geus, E, Dunn, E, Li, Q, Nauck, M, Schoevers, R, Beekman, A, Knowles, J, Viktorin, A, Arnold, P, Barr, C, Bedoya-Berrio, G, Joseph Bienvenu, O, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, E, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, G, Hartmann, A, Hirschtritt, M, Hoekstra, P, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, G, Macciardi, F, Madruga-Garrido, M, Malaty, I, Maras, A, Mcgrath, L, Miguel, E, Mir, P, Nestadt, G, Nicolini, H, Okun, M, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, E, Reus, V, Richter, M, Riddle, M, Robertson, M, Roessner, V, Rosário, M, Samuels, J, Sandor, P, Stein, D, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, J, Wolanczyk, T, Worbe, Y, Zai, G, Goes, F, Mclaughlin, N, Nestadt, P, Grabe, H, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, S, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, Mcdonald, C, Murphy, K, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, A, Schall, U, Schwab, S, Sim, K, So, H, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, P, Henskens, F, Mattingsdal, M, Oh, S, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, C, Daly, M, Dichgans, M, Faraone, S, Guerreiro, R, Holmans, P, Kendler, K, Koeleman, B, Mathews, C, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, N, Cotsapas, C, Palotie, A, Smoller, J, Sullivan, P, Rosand, J, Corvin, A, Neale, B, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Ilyas Kamboh, M., Larson, Eric B., Rogaeva, Ekaterina, George-Hyslop, Peter St, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Yesim Demirci, F., Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M., Rossor, Martin, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias, Ligthart, Lannie, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E., Schürks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Van Den Maagdenberg, Arn M. J. M., Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell, Catarino, Claudia B., Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N., French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer, Kälviäinen, Reetta, Kunz, Wolfram S., Lerche, Holger, Leu, Costin, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Møller, Rikke S., Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M., Smith, Philip, Sperling, Michael, Striano, Pasquale, Surges, Rainer, Neil Thomas, G., Visscher, Frank, Whelan, Christopher D., Zara, Federico, Heinzen, Erin L., Marson, Anthony, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter, Martinez, Maria, Morris, Huw R., Sharma, Manu, Ryten, Mina, Mok, Kin Y., Pulit, Sara, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, BONCORAGLIO, GIORGIO BATTISTA, Thijs, Vincent, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie, Vicente, Astrid, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Perica, Vesna Boraska, Thornton, Laura M., Huckins, Laura M., William Rayner, N., Lewis, Cathryn M., Gratacos, Monica, Rybakowski, Filip, Keski-Rahkonen, Anna, Raevuori, Anu, Hudson, James I., Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H., O'Toole, Julie K., Trace, Sara E., Davis, Oliver S. 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D., Crosbie, Jennifer, Schachar, Russell, Loo, Sandra K., McGough, James J., Grevet, Eugenio H., Medland, Sarah E., Robinson, Elise, Weiss, Lauren A., Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino, Betancur, Catalina, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patrícia, Dawson, Geraldine, De Rubeis, Silvia, Duque, Frederico, Green, Andrew, Klauck, Sabine M., Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, Moreno-De-Luca, Daniel, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven, Vorstman, Jacob, Wassink, Thomas, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard, Roge, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G., Thompson, Robert C., Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E., Schalling, Martin, Jamain, Stéphane, Maaser, Anna, Fischer, Sascha B., Reinbold, Céline S., Fullerton, Janice M., Guzman-Parra, José, Mayoral, Fermin, Schofield, Peter R., Cichon, Sven, Mühleisen, Thomas W., Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B., Gershon, Elliot S., Rice, John, Potash, James B., Zandi, Peter P., Craddock, Nick, Nicol Ferrier, I., Alda, Martin, Rouleau, Guy A., Turecki, Gustavo, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M., Cruceanu, Cristiana, Jones, Ian R., Posthuma, Danielle, Andlauer, Till F. M., Forstner, Andreas J., Streit, Fabian, Baune, Bernhard T., Air, Tracy, Sinnamon, Grant, Wray, Naomi R., MacIntyre, Donald J., Porteous, David, Homuth, Georg, Rivera, Margarita, Grove, Jakob, Middeldorp, Christel M., Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H., Jansen, Rick, De Geus, Eco, Dunn, Erin, Li, Qingqin S., Nauck, Matthias, Schoevers, Robert A., Beekman, Aartjan TF, Knowles, James A., Viktorin, Alexander, Arnold, Paul, Barr, Cathy L., Bedoya-Berrio, Gabriel, Joseph Bienvenu, O., Brentani, Helena, Burton, Christie, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M., Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn, Freimer, Nelson, Gerber, Gloria, Grados, Marco, Greenberg, Erica, Hanna, Gregory L., Hartmann, Andreas, Hirschtritt, Matthew E., Hoekstra, Pieter J., Huang, Alden, Huyser, Chaim, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J., Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A., Maras, Athanasios, McGrath, Lauren, Miguel, Eurípedes C., Mir, Pablo, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S., Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M., Reus, Victor, Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Roessner, Veit, Rosário, Maria, Samuels, Jack F., Sandor, Paul, Stein, Dan J., Tsetsos, Fotis, Van Nieuwerburgh, Filip, Weatherall, Sarah, Wendland, Jens R., Wolanczyk, Tomasz, Worbe, Yulia, Zai, Gwyneth, Goes, Fernando S., McLaughlin, Nicole, Nestadt, Paul S., Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria, Valencia-Duarte, Ana, Bramon, Elvira, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray, Chong, Siow A., Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kučinskas, Vaidutis, Keong, Jimmy Lee Chee, Limborska, Svetlana, Loughland, Carmel, Lönnqvist, Jouko, Maher, Brion, Mattheisen, Manuel, McDonald, Colm, Murphy, Kieran C., Nenadic, Igor, Van Os, Jim, Pantelis, Christos, Pato, Michele, Petryshen, Tracey, Quested, Digby, Roussos, Panos, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Sim, Kang, So, Hon-Cheong, Stögmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V., Henskens, Frans, Mattingsdal, Morten, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M., Daly, Mark, Dichgans, Martin, Faraone, Stephen V., Guerreiro, Rita, Holmans, Peter, Kendler, Kenneth S., Koeleman, Bobby, Mathews, Carol A., Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie, Wood, Nicholas W., Cotsapas, Chris, Palotie, Aarno, Smoller, Jordan W., Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden, Neale, Benjamin M., Anttila, V, Bulik-Sullivan, B, Finucane, H, Walters, R, Bras, J, Duncan, L, Escott-Price, V, Falcone, G, Gormley, P, Malik, R, Patsopoulos, N, Ripke, S, Wei, Z, Yu, D, Lee, P, Turley, P, Grenier-Boley, B, Chouraki, V, Kamatani, Y, Berr, C, Letenneur, L, Hannequin, D, Amouyel, P, Boland, A, Deleuze, J, Duron, E, Vardarajan, B, Reitz, C, Goate, A, Huentelman, M, Ilyas Kamboh, M, Larson, E, Rogaeva, E, George-Hyslop, P, Hakonarson, H, Kukull, W, Farrer, L, Barnes, L, Beach, T, Yesim Demirci, F, Head, E, Hulette, C, Jicha, G, Kauwe, J, Kaye, J, Leverenz, J, Levey, A, Lieberman, A, Pankratz, V, Poon, W, Quinn, J, Saykin, A, Schneider, L, Smith, A, Sonnen, J, Stern, R, Van Deerlin, V, Van Eldik, L, Harold, D, Russo, G, Rubinsztein, D, Bayer, A, Tsolaki, M, Proitsi, P, Fox, N, Hampel, H, Owen, M, Mead, S, Passmore, P, Morgan, K, Nöthen, M, Rossor, M, Lupton, M, Hoffmann, P, Kornhuber, J, Lawlor, B, Mcquillin, A, Al-Chalabi, A, Bis, J, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, Van Der Lee, S, De Jager, P, Geschwind, D, Riemenschneider, M, Riedel-Heller, S, Rotter, J, Ransmayr, G, Hyman, B, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, K, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, G, Freilinger, T, Ran, C, Gordon, S, Borck, G, Adams, H, Lehtimäki, T, Wedenoja, J, Buring, J, Schürks, M, Hrafnsdottir, M, Hottenga, J, Penninx, B, Artto, V, Kaunisto, M, Vepsäläinen, S, Martin, N, Montgomery, G, Kurki, M, Hämäläinen, E, Huang, H, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Göbel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, M, Belin, A, Van Den Maagdenberg, A, Zwart, J, Boomsma, D, Eriksson, N, Olesen, J, Chasman, D, Nyholt, D, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, C, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, T, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kälviäinen, R, Kunz, W, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, Mccormack, M, Møller, R, Molloy, A, Ng, P, Oliver, K, Privitera, M, Radtke, R, Ruppert, A, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, S, Smith, P, Sperling, M, Striano, P, Surges, R, Neil Thomas, G, Visscher, F, Whelan, C, Zara, F, Heinzen, E, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, H, Sharma, M, Ryten, M, Mok, K, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, W, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, V, Thornton, L, Huckins, L, William Rayner, N, Lewis, C, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, J, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, J, O'Toole, J, Trace, S, Davis, O, Helder, S, Ehrlich, S, Herpertz-Dahlmann, B, Danner, U, Van Elburg, A, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julia, A, Rabionet, R, Dick, D, Ripatti, S, Andreassen, O, Espeseth, T, Lundervold, A, Steen, V, Pinto, D, Scherer, S, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, K, Mitchell, J, Strober, M, Bergen, A, Kaye, W, Szatkiewicz, J, Cormand, B, Ramos-Quiroga, J, Sánchez-Mora, C, Ribasés, M, Casas, M, Hervas, A, Arranz, M, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, R, Banaschewski, T, Franke, B, Buitelaar, J, Vasquez, A, Doyle, A, Reif, A, Lesch, K, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, S, Dalsgaard, S, Børglum, A, Waldman, I, Wilmot, B, Molly, N, Bau, C, Crosbie, J, Schachar, R, Loo, S, Mcgough, J, Grevet, E, Medland, S, Robinson, E, Weiss, L, Bacchelli, E, Bailey, A, Bal, V, Battaglia, A, Betancur, C, Bolton, P, Cantor, R, Celestino-Soper, P, Dawson, G, De Rubeis, S, Duque, F, Green, A, Klauck, S, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, T, Thompson, R, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, Mcintosh, A, Bergen, S, Schalling, M, Jamain, S, Maaser, A, Fischer, S, Reinbold, C, Fullerton, J, Guzman-Parra, J, Mayoral, F, Schofield, P, Cichon, S, Mühleisen, T, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, P, Gershon, E, Rice, J, Potash, J, Zandi, P, Craddock, N, Nicol Ferrier, I, Alda, M, Rouleau, G, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, P, Cruceanu, C, Jones, I, Posthuma, D, Andlauer, T, Forstner, A, Streit, F, Baune, B, Air, T, Sinnamon, G, Wray, N, Macintyre, D, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, C, Hickie, I, Pergadia, M, Mehta, D, Smit, J, Jansen, R, De Geus, E, Dunn, E, Li, Q, Nauck, M, Schoevers, R, Beekman, A, Knowles, J, Viktorin, A, Arnold, P, Barr, C, Bedoya-Berrio, G, Joseph Bienvenu, O, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, E, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, G, Hartmann, A, Hirschtritt, M, Hoekstra, P, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, G, Macciardi, F, Madruga-Garrido, M, Malaty, I, Maras, A, Mcgrath, L, Miguel, E, Mir, P, Nestadt, G, Nicolini, H, Okun, M, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, E, Reus, V, Richter, M, Riddle, M, Robertson, M, Roessner, V, Rosário, M, Samuels, J, Sandor, P, Stein, D, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, J, Wolanczyk, T, Worbe, Y, Zai, G, Goes, F, Mclaughlin, N, Nestadt, P, Grabe, H, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, S, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, Mcdonald, C, Murphy, K, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, A, Schall, U, Schwab, S, Sim, K, So, H, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, P, Henskens, F, Mattingsdal, M, Oh, S, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, C, Daly, M, Dichgans, M, Faraone, S, Guerreiro, R, Holmans, P, Kendler, K, Koeleman, B, Mathews, C, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, N, Cotsapas, C, Palotie, A, Smoller, J, Sullivan, P, Rosand, J, Corvin, A, Neale, B, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Ilyas Kamboh, M., Larson, Eric B., Rogaeva, Ekaterina, George-Hyslop, Peter St, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Yesim Demirci, F., Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M., Rossor, Martin, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, Van Der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias, Ligthart, Lannie, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimäki, Terho, Wedenoja, Juho, Buring, Julie E., Schürks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hämäläinen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth, Göbel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Metspalu, Andres, Kubisch, Christian, Ferrari, Michel D., Belin, Andrea C., Van Den Maagdenberg, Arn M. J. M., Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell, Catarino, Claudia B., Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N., French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer, Kälviäinen, Reetta, Kunz, Wolfram S., Lerche, Holger, Leu, Costin, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Møller, Rikke S., Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M., Smith, Philip, Sperling, Michael, Striano, Pasquale, Surges, Rainer, Neil Thomas, G., Visscher, Frank, Whelan, Christopher D., Zara, Federico, Heinzen, Erin L., Marson, Anthony, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter, Martinez, Maria, Morris, Huw R., Sharma, Manu, Ryten, Mina, Mok, Kin Y., Pulit, Sara, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, BONCORAGLIO, GIORGIO BATTISTA, Thijs, Vincent, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie, Vicente, Astrid, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Perica, Vesna Boraska, Thornton, Laura M., Huckins, Laura M., William Rayner, N., Lewis, Cathryn M., Gratacos, Monica, Rybakowski, Filip, Keski-Rahkonen, Anna, Raevuori, Anu, Hudson, James I., Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H., O'Toole, Julie K., Trace, Sara E., Davis, Oliver S. P., Helder, Sietske G., Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N., Van Elburg, Annemarie A., Clementi, Maurizio, Forzan, Monica, Docampo, Elisa, Lissowska, Jolanta, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah, Herms, Stefan, Julia, Antonio, Rabionet, Raquel, Dick, Danielle M., Ripatti, Samuli, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J., Steen, Vidar M., Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Schosser, Alexandra, Alfredsson, Lars, Padyukov, Leonid, Halmi, Katherine A., Mitchell, James, Strober, Michael, Bergen, Andrew W., Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru, Ramos-Quiroga, Josep Antoni, Sánchez-Mora, Cristina, Ribasés, Marta, Casas, Miguel, Hervas, Amaia, Arranz, Maria Jesús, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan, Williams, Nigel, Dempfle, Astrid, Rothenberger, Aribert, Kuntsi, Jonna, Oades, Robert D., Banaschewski, Tobias, Franke, Barbara, Buitelaar, Jan K., Vasquez, Alejandro Arias, Doyle, Alysa E., Reif, Andreas, Lesch, Klaus-Peter, Freitag, Christine, Rivero, Olga, Palmason, Haukur, Romanos, Marcel, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H., Dalsgaard, Soeren, Børglum, Anders D., Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton H. D., Crosbie, Jennifer, Schachar, Russell, Loo, Sandra K., McGough, James J., Grevet, Eugenio H., Medland, Sarah E., Robinson, Elise, Weiss, Lauren A., Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino, Betancur, Catalina, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patrícia, Dawson, Geraldine, De Rubeis, Silvia, Duque, Frederico, Green, Andrew, Klauck, Sabine M., Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, Moreno-De-Luca, Daniel, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven, Vorstman, Jacob, Wassink, Thomas, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard, Roge, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G., Thompson, Robert C., Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E., Schalling, Martin, Jamain, Stéphane, Maaser, Anna, Fischer, Sascha B., Reinbold, Céline S., Fullerton, Janice M., Guzman-Parra, José, Mayoral, Fermin, Schofield, Peter R., Cichon, Sven, Mühleisen, Thomas W., Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B., Gershon, Elliot S., Rice, John, Potash, James B., Zandi, Peter P., Craddock, Nick, Nicol Ferrier, I., Alda, Martin, Rouleau, Guy A., Turecki, Gustavo, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M., Cruceanu, Cristiana, Jones, Ian R., Posthuma, Danielle, Andlauer, Till F. M., Forstner, Andreas J., Streit, Fabian, Baune, Bernhard T., Air, Tracy, Sinnamon, Grant, Wray, Naomi R., MacIntyre, Donald J., Porteous, David, Homuth, Georg, Rivera, Margarita, Grove, Jakob, Middeldorp, Christel M., Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H., Jansen, Rick, De Geus, Eco, Dunn, Erin, Li, Qingqin S., Nauck, Matthias, Schoevers, Robert A., Beekman, Aartjan TF, Knowles, James A., Viktorin, Alexander, Arnold, Paul, Barr, Cathy L., Bedoya-Berrio, Gabriel, Joseph Bienvenu, O., Brentani, Helena, Burton, Christie, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M., Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn, Freimer, Nelson, Gerber, Gloria, Grados, Marco, Greenberg, Erica, Hanna, Gregory L., Hartmann, Andreas, Hirschtritt, Matthew E., Hoekstra, Pieter J., Huang, Alden, Huyser, Chaim, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J., Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A., Maras, Athanasios, McGrath, Lauren, Miguel, Eurípedes C., Mir, Pablo, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S., Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M., Reus, Victor, Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Roessner, Veit, Rosário, Maria, Samuels, Jack F., Sandor, Paul, Stein, Dan J., Tsetsos, Fotis, Van Nieuwerburgh, Filip, Weatherall, Sarah, Wendland, Jens R., Wolanczyk, Tomasz, Worbe, Yulia, Zai, Gwyneth, Goes, Fernando S., McLaughlin, Nicole, Nestadt, Paul S., Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria, Valencia-Duarte, Ana, Bramon, Elvira, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray, Chong, Siow A., Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kučinskas, Vaidutis, Keong, Jimmy Lee Chee, Limborska, Svetlana, Loughland, Carmel, Lönnqvist, Jouko, Maher, Brion, Mattheisen, Manuel, McDonald, Colm, Murphy, Kieran C., Nenadic, Igor, Van Os, Jim, Pantelis, Christos, Pato, Michele, Petryshen, Tracey, Quested, Digby, Roussos, Panos, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Sim, Kang, So, Hon-Cheong, Stögmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V., Henskens, Frans, Mattingsdal, Morten, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M., Daly, Mark, Dichgans, Martin, Faraone, Stephen V., Guerreiro, Rita, Holmans, Peter, Kendler, Kenneth S., Koeleman, Bobby, Mathews, Carol A., Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie, Wood, Nicholas W., Cotsapas, Chris, Palotie, Aarno, Smoller, Jordan W., Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden, and Neale, Benjamin M.
Abstract: Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.
Published: 2018

47. Abstracts from Hydrocephalus 2016.

Author: Adam, A, Robison, J, Lu, J, Jose, R, Badran, N, Vivas-Buitrago, T, Rigamonti, D, Sattar, A, Omoush, O, Hammad, M, Dawood, M, Maghaslah, M, Belcher, T, Carson, K, Hoffberger, J, Jusué Torres, I, Foley, S, Yasar, S, Thai, Q A, Wemmer, J, Klinge, P, Al-Mutawa, L, Al-Ghamdi, H, Carson, K A, Asgari, M, de Zélicourt, D, Kurtcuoglu, V, Garnotel, S, Salmon, S, Balédent, O, Lokossou, A, Page, G, Balardy, L, Czosnyka, Z, Payoux, P, Schmidt, E A, Zitoun, M, Sevestre, M A, Alperin, N, Baudracco, I, Craven, C, Matloob, S, Thompson, S, Haylock Vize, P, Thorne, L, Watkins, L D, Toma, A K, Bechter, Karl, Pong, A C, Jugé, L, Bilston, L E, Cheng, S, Bradley, W, Hakim, F, Ramón, J F, Cárdenas, M F, Davidson, J S, García, C, González, D, Bermúdez, S, Useche, N, Mejía, J A, Mayorga, P, Cruz, F, Martinez, C, Matiz, M C, Vallejo, M, Ghotme, K, Soto, H A, Riveros, D, Buitrago, A, Mora, M, Murcia, L, Bermudez, S, Cohen, D, Dasgupta, D, Curtis, C, Domínguez, L, Remolina, A J, Grijalba, M A, Whitehouse, K J, Edwards, R J, Eleftheriou, A, Lundin, F, Fountas, K N, Kapsalaki, E Z, Smisson, H F, Robinson, J S, Fritsch, M J, Arouk, W, Garzon, M, Kang, M, Sandhu, K, Baghawatti, D, Aquilina, K, James, G, Thompson, D, Gehlen, M, Schmid Daners, M, Eklund, A, Malm, J, Gomez, D, Guerra, M, Jara, M, Flores, M, Vío, K, Moreno, I, Rodríguez, S, Ortega, E, Rodríguez, E M, McAllister, J P, Guerra, M M, Morales, D M, Sival, D, Jimenez, A, Limbrick, D D, Ishikawa, M, Yamada, S, Yamamoto, K, Junkkari, A, Häyrinen, A, Rauramaa, T, Sintonen, H, Nerg, O, Koivisto, A M, Roine, R P, Viinamäki, H, Soininen, H, Luikku, A, Jääskeläinen, J E, Leinonen, V, Kehler, U, Lilja-Lund, O, Kockum, K, Larsson, Elna-Marie, Riklund, K, Söderström, L, Hellström, P, Laurell, K, Kojoukhova, M, Sutela, A, Vanninen, R, Vanha, K I, Timonen, M, Rummukainen, J, Korhonen, V, Helisalmi, S, Solje, E, Remes, A M, Huovinen, J, Paananen, J, Hiltunen, M, Kurki, M, Martin, B, Loth, F, Luciano, M, Luikku, A J, Hall, A, Herukka, S K, Mattila, J, Lötjönen, J, Alafuzoff, Irina, Jurjević, I, Miyajima, M, Nakajima, M, Murai, H, Shin, T, Kawaguchi, D, Akiba, C, Ogino, I, Karagiozov, K, Arai, H, Reis, R C, Teixeira, M J, Valêncio, C G, da Vigua, D, Almeida-Lopes, L, Mancini, M W, Pinto, F C G, Maykot, R H, Calia, G, Tornai, J, Silvestre, S S S, Mendes, G, Sousa, V, Bezerra, B, Dutra, P, Modesto, P, Oliveira, M F, Petitto, C E, Pulhorn, H, Chandran, A, McMahon, C, Rao, A S, Jumaly, M, Solomon, D, Moghekar, A, Relkin, N, Hamilton, M, Katzen, H, Williams, M, Bach, T, Zuspan, S, Holubkov, R, Rigamonti, A, Clemens, G, Sharkey, P, Sanyal, A, Sankey, E, Rigamonti, K, Naqvi, S, Hung, A, Schmidt, E, Ory-Magne, F, Gantet, P, Guenego, A, Januel, A C, Tall, P, Fabre, N, Mahieu, L, Cognard, C, Gray, L, Buttner-Ennever, J A, Takagi, K, Onouchi, K, Thompson, S D, Thorne, L D, Tully, H M, Wenger, T L, Kukull, W A, Doherty, D, Dobyns, W B, Moran, D, Vakili, S, Patel, M A, Elder, B, Goodwin, C R, Crawford, J A, Pletnikov, M V, Xu, J, Blitz, A, Herzka, D A, Guerrero-Cazares, H, Quiñones-Hinojosa, A, Mori, S, Saavedra, P, Treviño, H, Maitani, K, Ziai, W C, Eslami, V, Nekoovaght-Tak, S, Dlugash, R, Yenokyan, G, McBee, N, Hanley, D F, Adam, A, Robison, J, Lu, J, Jose, R, Badran, N, Vivas-Buitrago, T, Rigamonti, D, Sattar, A, Omoush, O, Hammad, M, Dawood, M, Maghaslah, M, Belcher, T, Carson, K, Hoffberger, J, Jusué Torres, I, Foley, S, Yasar, S, Thai, Q A, Wemmer, J, Klinge, P, Al-Mutawa, L, Al-Ghamdi, H, Carson, K A, Asgari, M, de Zélicourt, D, Kurtcuoglu, V, Garnotel, S, Salmon, S, Balédent, O, Lokossou, A, Page, G, Balardy, L, Czosnyka, Z, Payoux, P, Schmidt, E A, Zitoun, M, Sevestre, M A, Alperin, N, Baudracco, I, Craven, C, Matloob, S, Thompson, S, Haylock Vize, P, Thorne, L, Watkins, L D, Toma, A K, Bechter, Karl, Pong, A C, Jugé, L, Bilston, L E, Cheng, S, Bradley, W, Hakim, F, Ramón, J F, Cárdenas, M F, Davidson, J S, García, C, González, D, Bermúdez, S, Useche, N, Mejía, J A, Mayorga, P, Cruz, F, Martinez, C, Matiz, M C, Vallejo, M, Ghotme, K, Soto, H A, Riveros, D, Buitrago, A, Mora, M, Murcia, L, Bermudez, S, Cohen, D, Dasgupta, D, Curtis, C, Domínguez, L, Remolina, A J, Grijalba, M A, Whitehouse, K J, Edwards, R J, Eleftheriou, A, Lundin, F, Fountas, K N, Kapsalaki, E Z, Smisson, H F, Robinson, J S, Fritsch, M J, Arouk, W, Garzon, M, Kang, M, Sandhu, K, Baghawatti, D, Aquilina, K, James, G, Thompson, D, Gehlen, M, Schmid Daners, M, Eklund, A, Malm, J, Gomez, D, Guerra, M, Jara, M, Flores, M, Vío, K, Moreno, I, Rodríguez, S, Ortega, E, Rodríguez, E M, McAllister, J P, Guerra, M M, Morales, D M, Sival, D, Jimenez, A, Limbrick, D D, Ishikawa, M, Yamada, S, Yamamoto, K, Junkkari, A, Häyrinen, A, Rauramaa, T, Sintonen, H, Nerg, O, Koivisto, A M, Roine, R P, Viinamäki, H, Soininen, H, Luikku, A, Jääskeläinen, J E, Leinonen, V, Kehler, U, Lilja-Lund, O, Kockum, K, Larsson, Elna-Marie, Riklund, K, Söderström, L, Hellström, P, Laurell, K, Kojoukhova, M, Sutela, A, Vanninen, R, Vanha, K I, Timonen, M, Rummukainen, J, Korhonen, V, Helisalmi, S, Solje, E, Remes, A M, Huovinen, J, Paananen, J, Hiltunen, M, Kurki, M, Martin, B, Loth, F, Luciano, M, Luikku, A J, Hall, A, Herukka, S K, Mattila, J, Lötjönen, J, Alafuzoff, Irina, Jurjević, I, Miyajima, M, Nakajima, M, Murai, H, Shin, T, Kawaguchi, D, Akiba, C, Ogino, I, Karagiozov, K, Arai, H, Reis, R C, Teixeira, M J, Valêncio, C G, da Vigua, D, Almeida-Lopes, L, Mancini, M W, Pinto, F C G, Maykot, R H, Calia, G, Tornai, J, Silvestre, S S S, Mendes, G, Sousa, V, Bezerra, B, Dutra, P, Modesto, P, Oliveira, M F, Petitto, C E, Pulhorn, H, Chandran, A, McMahon, C, Rao, A S, Jumaly, M, Solomon, D, Moghekar, A, Relkin, N, Hamilton, M, Katzen, H, Williams, M, Bach, T, Zuspan, S, Holubkov, R, Rigamonti, A, Clemens, G, Sharkey, P, Sanyal, A, Sankey, E, Rigamonti, K, Naqvi, S, Hung, A, Schmidt, E, Ory-Magne, F, Gantet, P, Guenego, A, Januel, A C, Tall, P, Fabre, N, Mahieu, L, Cognard, C, Gray, L, Buttner-Ennever, J A, Takagi, K, Onouchi, K, Thompson, S D, Thorne, L D, Tully, H M, Wenger, T L, Kukull, W A, Doherty, D, Dobyns, W B, Moran, D, Vakili, S, Patel, M A, Elder, B, Goodwin, C R, Crawford, J A, Pletnikov, M V, Xu, J, Blitz, A, Herzka, D A, Guerrero-Cazares, H, Quiñones-Hinojosa, A, Mori, S, Saavedra, P, Treviño, H, Maitani, K, Ziai, W C, Eslami, V, Nekoovaght-Tak, S, Dlugash, R, Yenokyan, G, McBee, N, and Hanley, D F
Published: 2017
Full Text: View/download PDF

48. Abstracts from Hydrocephalus 2016

Author: Adam, A., primary, Robison, J., additional, Lu, J., additional, Jose, R., additional, Badran, N., additional, Vivas-Buitrago, T., additional, Rigamonti, D., additional, Sattar, A., additional, Omoush, O., additional, Hammad, M., additional, Dawood, M., additional, Maghaslah, M., additional, Belcher, T., additional, Carson, K., additional, Hoffberger, J., additional, Jusué Torres, I., additional, Foley, S., additional, Yasar, S., additional, Thai, Q. A., additional, Wemmer, J., additional, Klinge, P., additional, Al-Mutawa, L., additional, Al-Ghamdi, H., additional, Carson, K. A., additional, Asgari, M., additional, de Zélicourt, D., additional, Kurtcuoglu, V., additional, Garnotel, S., additional, Salmon, S., additional, Balédent, O., additional, Lokossou, A., additional, Page, G., additional, Balardy, L., additional, Czosnyka, Z., additional, Payoux, P., additional, Schmidt, E. A., additional, Zitoun, M., additional, Sevestre, M. A., additional, Alperin, N., additional, Baudracco, I., additional, Craven, C., additional, Matloob, S., additional, Thompson, S., additional, Haylock Vize, P., additional, Thorne, L., additional, Watkins, L. D., additional, Toma, A. K., additional, Bechter, Karl, additional, Pong, A. C., additional, Jugé, L., additional, Bilston, L. E., additional, Cheng, S., additional, Bradley, W., additional, Hakim, F., additional, Ramón, J. F., additional, Cárdenas, M. F., additional, Davidson, J. S., additional, García, C., additional, González, D., additional, Bermúdez, S., additional, Useche, N., additional, Mejía, J. A., additional, Mayorga, P., additional, Cruz, F., additional, Martinez, C., additional, Matiz, M. C., additional, Vallejo, M., additional, Ghotme, K., additional, Soto, H. A., additional, Riveros, D., additional, Buitrago, A., additional, Mora, M., additional, Murcia, L., additional, Bermudez, S., additional, Cohen, D., additional, Dasgupta, D., additional, Curtis, C., additional, Domínguez, L., additional, Remolina, A. J., additional, Grijalba, M. A., additional, Whitehouse, K. J., additional, Edwards, R. J., additional, Eleftheriou, A., additional, Lundin, F., additional, Fountas, K. N., additional, Kapsalaki, E. Z., additional, Smisson, H. F., additional, Robinson, J. S., additional, Fritsch, M. J., additional, Arouk, W., additional, Garzon, M., additional, Kang, M., additional, Sandhu, K., additional, Baghawatti, D., additional, Aquilina, K., additional, James, G., additional, Thompson, D., additional, Gehlen, M., additional, Schmid Daners, M., additional, Eklund, A., additional, Malm, J., additional, Gomez, D., additional, Guerra, M., additional, Jara, M., additional, Flores, M., additional, Vío, K., additional, Moreno, I., additional, Rodríguez, S., additional, Ortega, E., additional, Rodríguez, E. M., additional, McAllister, J. P., additional, Guerra, M. M., additional, Morales, D. M., additional, Sival, D., additional, Jimenez, A., additional, Limbrick, D. D., additional, Ishikawa, M., additional, Yamada, S., additional, Yamamoto, K., additional, Junkkari, A., additional, Häyrinen, A., additional, Rauramaa, T., additional, Sintonen, H., additional, Nerg, O., additional, Koivisto, A. M., additional, Roine, R. P., additional, Viinamäki, H., additional, Soininen, H., additional, Luikku, A., additional, Jääskeläinen, J. E., additional, Leinonen, V., additional, Kehler, U., additional, Lilja-Lund, O., additional, Kockum, K., additional, Larsson, E. M., additional, Riklund, K., additional, Söderström, L., additional, Hellström, P., additional, Laurell, K., additional, Kojoukhova, M., additional, Sutela, A., additional, Vanninen, R., additional, Vanha, K. I., additional, Timonen, M., additional, Rummukainen, J., additional, Korhonen, V., additional, Helisalmi, S., additional, Solje, E., additional, Remes, A. M., additional, Huovinen, J., additional, Paananen, J., additional, Hiltunen, M., additional, Kurki, M., additional, Martin, B., additional, Loth, F., additional, Luciano, M., additional, Luikku, A. J., additional, Hall, A., additional, Herukka, S. K., additional, Mattila, J., additional, Lötjönen, J., additional, Alafuzoff, I., additional, Jurjević, I., additional, Miyajima, M., additional, Nakajima, M., additional, Murai, H., additional, Shin, T., additional, Kawaguchi, D., additional, Akiba, C., additional, Ogino, I., additional, Karagiozov, K., additional, Arai, H, additional, Reis, R. C., additional, Teixeira, M. J., additional, Valêncio, C. G., additional, da Vigua, D., additional, Almeida-Lopes, L., additional, Mancini, M. W., additional, Pinto, F. C. G., additional, Maykot, R. H., additional, Calia, G., additional, Tornai, J., additional, Silvestre, S. S. S., additional, Mendes, G., additional, Sousa, V., additional, Bezerra, B., additional, Dutra, P., additional, Modesto, P., additional, Oliveira, M. F., additional, Petitto, C. E., additional, Pulhorn, H., additional, Chandran, A., additional, McMahon, C., additional, Rao, A. S., additional, Jumaly, M., additional, Solomon, D., additional, Moghekar, A., additional, Relkin, N., additional, Hamilton, M., additional, Katzen, H., additional, Williams, M., additional, Bach, T., additional, Zuspan, S., additional, Holubkov, R., additional, Rigamonti, A., additional, Clemens, G., additional, Sharkey, P., additional, Sanyal, A., additional, Sankey, E., additional, Rigamonti, K., additional, Naqvi, S., additional, Hung, A., additional, Schmidt, E., additional, Ory-Magne, F., additional, Gantet, P., additional, Guenego, A., additional, Januel, A. C., additional, Tall, P., additional, Fabre, N., additional, Mahieu, L., additional, Cognard, C., additional, Gray, L., additional, Buttner-Ennever, J. A., additional, Takagi, K., additional, Onouchi, K, additional, Thompson, S. D., additional, Thorne, L. D., additional, Tully, H. M., additional, Wenger, T. L., additional, Kukull, W. A., additional, Doherty, D., additional, Dobyns, W. 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Published: 2017
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49. Tuberkuloosialtistustutkimukset lapsilla

Author: Kurki, M. (Miika)
Subjects: Medicine
Abstract: Suomi on nykyään tuberkuloosin osalta vähäisen ilmaantuvuuden maa. Tämän vuoksi tuberkuloosin torjunnassa korostuu maassamme latenttien tuberkuloosi-infektioiden tunnistaminen. Riskiryhmässä ovat etenkin pikkulapset, sillä heillä tavataan useammin taudin vakavia muotoja. Tutkimuksen tavoitteena oli selvittää altistustutkimuksina käytettävien Mantoux’n ihotuberkuliinikokeen ja gammainterferonitestin (TbIFNg) käyttökelpoisuutta lasten latentin tuberkuloosin diagnostiikassa. Aineisto käsitti kaikki vv. 2003–2013 Oulun yliopistollisen sairaalaan Lasten ja nuorten klinikassa hoidetut alle 16-vuotiaat lapset, joilla epäiltiin tuberkuloositartunnan mahdollisuutta. Tutkimuksen tulokset osoittavat, että BCG-rokotettujen lasten joukossa ihotuberkuliinikokeen ongelma on runsaat väärät positiiviset tulokset. Altistustutkimukset vaativat runsaasti resursseja, mutta kuitenkaan yhtään aktiivista tuberkuloosia ei tutkimuksen seurannoissa löytynyt. Tutkimuksen tulokset puoltavatkin seulontojen keventämistä siten, että ensisijaisena altistus-tutkimuksena käytetään pelkästään TbIFNg-testiä.
Published: 2015

50. Elderly people in the world of social media

Author: Petäkoski-Hult, Tuula, Kurki, M., Järvinen, M., Kuukkanen, Hannu, and Vainikainen, Sari
Published: 2011

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