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1. A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Author: Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo
Published: 2022
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2. Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Author: Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo
Published: 2022
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3. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

Author: Yu, Dongmei, Mathews, Carol A, Scharf, Jeremiah M, Neale, Benjamin M, Davis, Lea K, Gamazon, Eric R, Derks, Eske M, Evans, Patrick, Edlund, Christopher K, Crane, Jacquelyn, Fagerness, Jesen A, Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M, Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrió, Gabriel Bedoya, Bienvenu, O Joseph, Black, Donald W, Bloch, Michael H, Brentani, Helena, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Campbell, Desmond D, Cappi, Carolina, Silgado, Julio C Cardona, Cavallini, Maria C, Chavira, Denise A, Chouinard, Sylvain, Cook, Edwin H, Cookson, MR, Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, Delorme, Richard, Denys, Damiaan, Dion, Yves, Eapen, Valsama, Egberts, Karin, Falkai, Peter, Fernandez, Thomas, Fournier, Eduardo, Garrido, Helena, Geller, Daniel, Gilbert, Donald L, Girard, Simon L, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Grünblatt, Edna, Hardy, John, Heiman, Gary A, Hemmings, Sian MJ, Herrera, Luis D, Hezel, Dianne M, Hoekstra, Pieter J, Jankovic, Joseph, Kennedy, James L, King, Robert A, Konkashbaev, Anuar I, Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L, Lupoli, Sara, Macciardi, Fabio, Maier, Wolfgang, Manunta, Paolo, Marconi, Maurizio, McCracken, James T, Mesa Restrepo, Sandra C, Moessner, Rainald, Moorjani, Priya, Morgan, Jubel, Muller, Heike, Murphy, Dennis L, Naarden, Allan L, Nurmi, Erika, Ochoa, William Cornejo, Ophoff, Roel A, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, and Pollak, Yehuda
Subjects: Humans, Tourette Syndrome, Severity of Illness Index, Obsessive-Compulsive Disorder, Psychiatric Status Rating Scales, Comorbidity, Polymorphism, Single Nucleotide, Adult, Female, Male, Genome-Wide Association Study, Human Genome, Genetics, Brain Disorders, Serious Mental Illness, Neurodegenerative, Prevention, Anxiety Disorders, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract: ObjectiveObsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD.MethodThe authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders.ResultsAlthough no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01).ConclusionsPrevious work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring Tourette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.
Published: 2015

4. Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients

Author: Leone, Maurizio A, Barizzone, Nadia, Esposito, Federica, Lucenti, Ausiliatrice, Harbo, Hanne F, Goris, An, Kockum, Ingrid, Oturai, Annette Bang, Celius, Elisabeth Gulowsen, Mero, Inger L, Dubois, Bénédicte, Olsson, Tomas, Søndergaard, Helle Bach, Cusi, Daniele, Lupoli, Sara, Andreassen, Bettina Kulle, Myhr, Kjell-Morten, Guerini, Franca R, Comi, Giancarlo, Martinelli-Boneschi, Filippo, and D'Alfonso, Sandra
Subjects: Genetics, Clinical Research, Autoimmune Disease, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adult, Female, Genetic Markers, Genome-Wide Association Study, HLA-DRB1 Chains, Humans, Male, Meta-Analysis as Topic, Middle Aged, Multiple Sclerosis, Oligoclonal Bands, Polymorphism, Single Nucleotide, Young Adult, International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, PROGEMUS Group, PROGRESSO Group, General Science & Technology
Abstract: Objectiveto explore the association between genetic markers and Oligoclonal Bands (OCB) in the Cerebro Spinal Fluid (CSF) of Italian Multiple Sclerosis patients.MethodsWe genotyped 1115 Italian patients for HLA-DRB1*15 and HLA-A*02. In a subset of 925 patients we tested association with 52 non-HLA SNPs associated with MS susceptibility and we calculated a weighted Genetic Risk Score. Finally, we performed a Genome Wide Association Study (GWAS) with OCB status on a subset of 562 patients. The best associated SNPs of the Italian GWAS were replicated in silico in Scandinavian and Belgian populations, and meta-analyzed.ResultsHLA-DRB1*15 is associated with OCB+: p = 0.03, Odds Ratio (OR) = 1.6, 95% Confidence Limits (CL) = 1.1-2.4. None of the 52 non-HLA MS susceptibility loci was associated with OCB, except one SNP (rs2546890) near IL12B gene (OR: 1.45; 1.09-1.92). The weighted Genetic Risk Score mean was significantly (p = 0.0008) higher in OCB+ (7.668) than in OCB- (7.412) patients. After meta-analysis on the three datasets (Italian, Scandinavian and Belgian) for the best associated signals resulted from the Italian GWAS, the strongest signal was a SNP (rs9320598) on chromosome 6q (p = 9.4×10(-7)) outside the HLA region (65 Mb).Discussiongenetic factors predispose to the development of OCB.
Published: 2013

5. Association of the Type 2 Diabetes Mellitus Susceptibility Gene, TCF7L2, with Schizophrenia in an Arab-Israeli Family Sample

Author: Alkelai, Anna, Greenbaum, Lior, Lupoli, Sara, Kohn, Yoav, Sarner-Kanyas, Kyra, Ben-Asher, Edna, Lancet, Doron, Macciardi, Fabio, and Lerer, Bernard
Subjects: genome-wide association, diagnostic criteria, korean population, risk-factors, polymorphisms, metaanalysis, variants, linkage, locus, expression
Abstract: Many reports in different populations have demonstrated linkage of the 10q24–q26 region to schizophrenia, thus encouraging further analysis of this locus for detection of specific schizophrenia genes. Our group previously reported linkage of the 10q24–q26 region to schizophrenia in a unique, homogeneous sample of Arab-Israeli families with multiple schizophrenia-affected individuals, under a dominant model of inheritance. To further explore this candidate region and identify specific susceptibility variants within it, we performed re-analysis of the 10q24-26 genotype data, taken from our previous genome-wide association study (GWAS) (Alkelai et al, 2011). We analyzed 2089 SNPs in an extended sample of 57 Arab Israeli families (189 genotyped individuals), under the dominant model of inheritance, which best fits this locus according to previously performed MOD score analysis. We found significant association with schizophrenia of the TCF7L2 gene intronic SNP, rs12573128, (p = 7.01×10−6) and of the nearby intergenic SNP, rs1033772, (p = 6.59×10−6) which is positioned between TCF7L2 and HABP2. TCF7L2 is one of the best confirmed susceptibility genes for type 2 diabetes (T2D) among different ethnic groups, has a role in pancreatic beta cell function and may contribute to the comorbidity of schizophrenia and T2D. These preliminary results independently support previous findings regarding a possible role of TCF7L2 in susceptibility to schizophrenia, and strengthen the importance of integrating linkage analysis models of inheritance while performing association analyses in regions of interest. Further validation studies in additional populations are required.
Published: 2012

6. Mitochondrial mutations and polymorphisms in psychiatric disorders.

Author: Sequeira, Adolfo, Martin, Maureen V, Rollins, Brandi, Moon, Emily A, Bunney, William E, Macciardi, Fabio, Lupoli, Sara, Smith, Erin N, Kelsoe, John, Magnan, Christophe N, van Oven, Mannis, Baldi, Pierre, Wallace, Douglas C, and Vawter, Marquis P
Subjects: bipolar disorder, common deletion, homoplasmy, mitochondria, novel mutations, schizophrenia, Brain Disorders, Neurosciences, Depression, Serious Mental Illness, Schizophrenia, Genetics, Mental Health, Clinical Research, Human Genome, Aetiology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Mental health, Clinical Sciences, Law
Abstract: Mitochondrial deficiencies with unknown causes have been observed in schizophrenia (SZ) and bipolar disorder (BD) in imaging and postmortem studies. Polymorphisms and somatic mutations in mitochondrial DNA (mtDNA) were investigated as potential causes with next generation sequencing of mtDNA (mtDNA-Seq) and genotyping arrays in subjects with SZ, BD, major depressive disorder (MDD), and controls. The common deletion of 4,977 bp in mtDNA was compared between SZ and controls in 11 different vulnerable brain regions and in blood samples, and in dorsolateral prefrontal cortex (DLPFC) of BD, SZ, and controls. In a separate analysis, association of mitochondria SNPs (mtSNPs) with SZ and BD in European ancestry individuals (n = 6,040) was tested using Genetic Association Information Network (GAIN) and Wellcome Trust Case Control Consortium 2 (WTCCC2) datasets. The common deletion levels were highly variable across brain regions, with a 40-fold increase in some regions (nucleus accumbens, caudate nucleus and amygdala), increased with age, and showed little change in blood samples from the same subjects. The common deletion levels were increased in the DLPFC for BD compared to controls, but not in SZ. Full mtDNA genome resequencing of 23 subjects, showed seven novel homoplasmic mutations, five were novel synonymous coding mutations. By logistic regression analysis there were no significant mtSNPs associated with BD or SZ after genome wide correction. However, nominal association of mtSNPs (p
Published: 2012

7. Hippocampal Atrophy as a Quantitative Trait in a Genome-Wide Association Study Identifying Novel Susceptibility Genes for Alzheimer's Disease

Author: Potkin, Steven G., Guffanti, Guia, Lakatos, Anita, Turner, Jessica A., Kruggel, Frithjof, Fallon, James H., Saykin, Andrew J., Orro, Alessandro, Lupoli, Sara, Salvi, Erika, Weiner, Michael, and Macciardi, Fabio
Subjects: mild cognitive impairment, ubiquitin-proteasome system, neurodegenerative disorders, clinical status, axon guidance, onset, mri, apoptosis, complex, volume
Abstract: BackgroundWith the exception of APOE ε4 allele, the common genetic risk factors for sporadic Alzheimer's Disease (AD) are unknown.Methods and FindingsWe completed a genome-wide association study on 381 participants in the ADNI (Alzheimer's Disease Neuroimaging Initiative) study. Samples were genotyped using the Illumina Human610-Quad BeadChip. 516,645 unique Single Nucleotide Polymorphisms (SNPs) were included in the analysis following quality control measures. The genotype data and raw genetic data are freely available for download (LONI, http://www.loni.ucla.edu/ADNI/Data/). Two analyses were completed: a standard case-control analysis, and a novel approach using hippocampal atrophy measured on MRI as an objectively defined, quantitative phenotype. A General Linear Model was applied to identify SNPs for which there was an interaction between the genotype and diagnosis on the quantitative trait. The case-control analysis identified APOE and a new risk gene, TOMM40 (translocase of outer mitochondrial membrane 40), at a genome-wide significance level of≤10−6 (10−11 for a haplotype). TOMM40 risk alleles were approximately twice as frequent in AD subjects as controls. The quantitative trait analysis identified 21 genes or chromosomal areas with at least one SNP with a p-value≤10−6, which can be considered potential “new” candidate loci to explore in the etiology of sporadic AD. These candidates included EFNA5, CAND1, MAGI2, ARSB, and PRUNE2, genes involved in the regulation of protein degradation, apoptosis, neuronal loss and neurodevelopment. Thus, we identified common genetic variants associated with the increased risk of developing AD in the ADNI cohort, and present publicly available genome-wide data. Supportive evidence based on case-control studies and biological plausibility by gene annotation is provided. Currently no available sample with both imaging and genetic data is available for replication.ConclusionsUsing hippocampal atrophy as a quantitative phenotype in a genome-wide scan, we have identified candidate risk genes for sporadic Alzheimer's disease that merit further investigation.
Published: 2009

8. Population Stratification Analysis in Genome-Wide Association Studies

Author: Salvi, Erika, Orro, Alessandro, Guffanti, Guia, Lupoli, Sara, Torri, Federica, Barlassina, Cristina, Potkin, Steven, Cusi, Daniele, Macciardi, Fabio, Milanesi, Luciano, and Bruni, Renato, editor
Published: 2011
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9. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

Author: D’Avila, Francesca, Meregalli, Mirella, Lupoli, Sara, Barcella, Matteo, Orro, Alessandro, De Santis, Francesca, Sitzia, Clementina, Farini, Andrea, D’Ursi, Pasqualina, Erratico, Silvia, Cristofani, Riccardo, Milanesi, Luciano, Braga, Daniele, Cusi, Daniele, Poletti, Angelo, Barlassina, Cristina, and Torrente, Yvan
Published: 2016
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10. Dietary Salt Intake, Blood Pressure, and Genes

Author: Lupoli, Sara, Salvi, Erika, and Barlassina, Cristina
Published: 2013
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11. TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients

Author: Koumakis, Eugénie, Wipff, Julien, Dieudé, Philippe, Ruiz, Barbara, Bouaziz, Matthieu, Revillod, Lucile, Guedj, Mickaël, Distler, Jörg H W, Matucci-Cerinic, Marco, Humbert, Marc, Riemekasten, Gabriella, Airo, Paolo, Melchers, Inga, Hachulla, Eric, Cusi, Daniele, Wichmann, H- Erich, Hunzelmann, Nicolas, Tiev, Kiet, Caramaschi, Paola, Diot, Elisabeth, Kowal-Bielecka, Otylia, Cuomo, Giovanna, Walker, Ulrich, Czirják, László, Damjanov, Nemanja, Lupoli, Sara, Conti, Costanza, Müller-Nurasyid, Martina, Müller-Ladner, Ulf, Riccieri, Valeria, Cracowski, Jean-Luc, Cozzi, Franco, Bournia, Vasiliki Kalliopi, Vlachoyiannopoulos, P, Chiocchia, Gilles, Boileau, Catherine, and Allanore, Yannick
Published: 2012
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12. Population Stratification Analysis in Genome-Wide Association Studies

Author: Salvi, Erika, primary, Orro, Alessandro, additional, Guffanti, Guia, additional, Lupoli, Sara, additional, Torri, Federica, additional, Barlassina, Cristina, additional, Potkin, Steven, additional, Cusi, Daniele, additional, Macciardi, Fabio, additional, and Milanesi, Luciano, additional
Published: 2010
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13. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Author: Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris C. A., Patsopoulos, Nikolaos A., Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E., Edkins, Sarah, Gray, Emma, Booth, David R., Potter, Simon C., Goris, An, Band, Gavin, Bang Oturai, Annette, Strange, Amy, Saarela, Janna, Bellenguez, Céline, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D’alfonso, Sandra, Blackburn, Hannah, Martinelli Boneschi, Filippo, Liddle, Jennifer, Harbo, Hanne F., Perez, Marc L., Spurkland, Anne, Waller, Matthew J., Mycko, Marcin P., Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T., Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J., Barcellos, Lisa F., Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E., Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P., Brassat, David, Broadley, Simon A., Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M., Cavalla, Paola, Celius, Elisabeth G., Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Françoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B., Cozen, Wendy, Cree, Bruce A. C., Cross, Anne H., Cusi, Daniele, Daly, Mark J., Davis, Emma, de Bakker, Paul I. W., Debouverie, Marc, D’hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Bénédicte, Ellinghaus, David, Elovaara, Irina, Esposito, Federica, Fontenille, Claire, Foote, Simon, Franke, Andre, Galimberti, Daniela, Ghezzi, Angelo, Glessner, Joseph, Gomez, Refujia, Gout, Olivier, Graham, Colin, Grant, Struan F. A., Rosa Guerini, Franca, Hakonarson, Hakon, Hall, Per, Hamsten, Anders, Hartung, Hans-Peter, Heard, Rob N., Heath, Simon, Hobart, Jeremy, Hoshi, Muna, Infante-Duarte, Carmen, Ingram, Gillian, Ingram, Wendy, Islam, Talat, Jagodic, Maja, Kabesch, Michael, Kermode, Allan G., Kilpatrick, Trevor J., Kim, Cecilia, Klopp, Norman, Koivisto, Keijo, Larsson, Malin, Lathrop, Mark, Lechner-Scott, Jeannette S., Leone, Maurizio A., Leppä, Virpi, Liljedahl, Ulrika, Lima Bomfim, Izaura, Lincoln, Robin R., Link, Jenny, Liu, Jianjun, Lorentzen, Åslaug R., Lupoli, Sara, Macciardi, Fabio, Mack, Thomas, Marriott, Mark, Martinelli, Vittorio, Mason, Deborah, McCauley, Jacob L., Mentch, Frank, Mero, Inger-Lise, Mihalova, Tania, Montalban, Xavier, Mottershead, John, Myhr, Kjell-Morten, Naldi, Paola, Ollier, William, Page, Alison, Palotie, Aarno, Pelletier, Jean, Piccio, Laura, Pickersgill, Trevor, Piehl, Fredrik, Pobywajlo, Susan, Quach, Hong L., Ramsay, Patricia P., Reunanen, Mauri, Reynolds, Richard, Rioux, John D., Rodegher, Mariaemma, Roesner, Sabine, Rubio, Justin P., Rückert, Ina-Maria, Salvetti, Marco, Salvi, Erika, Santaniello, Adam, Schaefer, Catherine A., Schreiber, Stefan, Schulze, Christian, Scott, Rodney J., Sellebjerg, Finn, Selmaj, Krzysztof W., Sexton, David, Shen, Ling, Simms-Acuna, Brigid, Skidmore, Sheila, Sleiman, Patrick M. A., Smestad, Cathrine, Sørensen, Per Soelberg, Søndergaard, Helle Bach, Stankovich, Jim, Strange, Richard C., Sulonen, Anna-Maija, Sundqvist, Emilie, Syvänen, Ann-Christine, Taddeo, Francesca, Taylor, Bruce, Blackwell, Jenefer M., Tienari, Pentti, Bramon, Elvira, Tourbah, Ayman, Brown, Matthew A., Tronczynska, Ewa, Casas, Juan P., Tubridy, Niall, Corvin, Aiden, Vickery, Jane, Jankowski, Janusz, Villoslada, Pablo, Markus, Hugh S., Wang, Kai, Mathew, Christopher G., Wason, James, Palmer, Colin N. A., Wichmann, H-Erich, Plomin, Robert, Willoughby, Ernest, Rautanen, Anna, Winkelmann, Juliane, Wittig, Michael, Trembath, Richard C., Yaouanq, Jacqueline, Viswanathan, Ananth C., Zhang, Haitao, Wood, Nicholas W., Zuvich, Rebecca, Deloukas, Panos, Langford, Cordelia, Duncanson, Audrey, Oksenberg, Jorge R., Pericak-Vance, Margaret A., Haines, Jonathan L., Olsson, Tomas, Hillert, Jan, Ivinson, Adrian J., De Jager, Philip L., Peltonen, Leena, Stewart, Graeme J., Hafler, David A., Hauser, Stephen L., McVean, Gil, Donnelly, Peter, and Compston, Alastair
Published: 2011
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14. Klotho Gene in Human Salt-Sensitive Hypertension

Author: Citterio, Lorena, primary, Delli Carpini, Simona, additional, Lupoli, Sara, additional, Brioni, Elena, additional, Simonini, Marco, additional, Fontana, Simone, additional, Zagato, Laura, additional, Messaggio, Elisabetta, additional, Barlassina, Cristina, additional, Cusi, Daniele, additional, Manunta, Paolo, additional, and Lanzani, Chiara, additional
Published: 2020
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15. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

Author: Chiò, Adriano, Schymick, Jennifer C., Restagno, Gabriella, Scholz, Sonja W., Lombardo, Federica, Lai, Shiao-Lin, Mora, Gabriele, Fung, Hon-Chung, Britton, Angela, Arepalli, Sampath, Gibbs, J Raphael, Nalls, Michael, Berger, Stephen, Kwee, Lydia Coulter, Oddone, Eugene Z., Ding, Jinhui, Crews, Cynthia, Rafferty, Ian, Washecka, Nicole, Hernandez, Dena, Ferrucci, Luigi, Bandinelli, Stefania, Guralnik, Jack, Macciardi, Fabio, Torri, Federica, Lupoli, Sara, Chanock, Stephen J., Thomas, Gilles, Hunter, David J., Gieger, Christian, Wichmann, H Erich, Calvo, Andrea, Mutani, Roberto, Battistini, Stefania, Giannini, Fabio, Caponnetto, Claudia, Mancardi, Giovanni Luigi, La Bella, Vincenzo, Valentino, Francesca, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Marinou, Kalliopi, Sabatelli, Mario, Conte, Amelia, Mandrioli, Jessica, Sola, Patrizia, Salvi, Fabrizio, Bartolomei, Ilaria, Siciliano, Gabriele, Carlesi, Cecilia, Orrell, Richard W., Talbot, Kevin, Simmons, Zachary, Connor, James, Pioro, Erik P., Dunkley, Travis, Stephan, Dietrich A., Kasperaviciute, Dalia, Fisher, Elizabeth M., Jabonka, Sibylle, Sendtner, Michael, Beck, Marcus, Bruijn, Lucie, Rothstein, Jeffrey, Schmidt, Silke, Singleton, Andrew, Hardy, John, and Traynor, Bryan J.
Published: 2009

16. Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors

Author: Martinelli-Boneschi, Filippo, Giacalone, Giacomo, Magnani, Giuseppe, Biella, Gloria, Coppi, Elisabetta, Santangelo, Roberto, Brambilla, Paola, Esposito, Federica, Lupoli, Sara, Clerici, Francesca, Benussi, Luisa, Ghidoni, Roberta, Galimberti, Daniela, Squitti, Rosanna, Confaloni, Annamaria, Bruno, Giuseppe, Pichler, Sabrina, Mayhaus, Manuel, Riemenschneider, Matthias, Mariani, Claudio, Comi, Giancarlo, Scarpini, Elio, Binetti, Giuliano, Forloni, Gianluigi, Franceschi, Massimo, and Albani, Diego
Published: 2013
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17. The burden of multiple sclerosis variants in continental Italians and Sardinians

Author: Sanna, Serena, Barizzone, Nadia, Zara, Ilenia, Sorosina, Melissa, Lupoli, Sara, Porcu, Eleonora, Pitzalis, Maristella, Zoledziewska, Magdalena, Esposito, Federica, Leone, Maurizio, Mulas, Antonella, Cocco, Eleonora, Ferrigno, Paola, Guerini, Franca R., Brambilla, Paola, Farina, Gabriele, Murru, Raffaele, Deidda, Francesca, Sanna, Sonia, Loi, Alessia, Barlassina, Cristina, Vecchio, Domizia, Zauli, Andrea, Clarelli, Ferdinando, Braga, Daniele, Poddie, Fausto, Cantello, Roberto, Martinelli, Vittorio, Comi, Giancarlo, Frau, Jessica, Lorefice, Lorena, Pugliatti, Maura, Rosati, Giulio, Progemus, Salvetti, Marco, Melis, Maurizio, Marrosu, Maria G., Cusi, Daniele, Cucca, Francesco, Martinelli Boneschi, Filippo, D'Alfonso, Sandra, Faculteit Medische Wetenschappen/UMCG, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
Subjects: single nucleotide, Risk, medicine.medical_specialty, Multiple Sclerosis, Genotype, autoimmune disease, sardinia, Human leukocyte antigen, Biology, Research Support, genetic risk score, Polymorphism, Single Nucleotide, NO, polymorphism, human leukocyte antigen, HLA Antigens, Epidemiology, Journal Article, medicine, Humans, genetics, Genetic Predisposition to Disease, Genetic risk, Non-U.S. Gov't, Autoimmune disease, epidemiology, Italy, Mediterranean populations, multiple sclerosis, Sardinia, Neurology (clinical), Neurology, Genetics, italy, mediterranean populations, biomarkers, genotype, hla antigens, humans, polymorphism, single nucleotide, risk, genetic predisposition to disease, neurology, neurology (clinical), Receiver operating characteristic, Research Support, Non-U.S. Gov't, Multiple sclerosis, medicine.disease, Biomarkers
Abstract: Background: Recent studies identified > 100 non-HLA (human leukocyte antigen) multiple sclerosis (MS) susceptibility variants in Northern European populations, but their role in Southern Europeans is largely unexplored. Objective: We aimed to investigate the cumulative impact of those variants in two Mediterranean populations: Continental Italians and Sardinians. Methods: We calculated four weighted Genetic Risk Scores (wGRS), using up to 102 non-HLA MS risk variants and 5 HLA MS susceptibility markers in 1691 patients and 2194 controls from continental Italy; and 2861 patients and 3034 controls from Sardinia. We then assessed the differences between populations using Nagelkerke’s R2 and the area under the Receiver Operating Characteristic (ROC) curves. Results: As expected, the genetic burden (mean wGRS value) was significantly higher in MS patients than in controls, in both populations. Of note, the burden was significantly higher in Sardinians. Conversely, the proportion of variability explained and the predictive power were significantly higher in continental Italians. Notably, within the Sardinian patients, we also observed a significantly higher burden of non-HLA variants in individuals who do not carry HLA risk alleles. Conclusions: The observed differences in MS genetic burden between the two Mediterranean populations highlight the need for more genetic studies in South Europeans, to further expand the knowledge of MS genetics.
Published: 2015

18. Target Sequencing, Cell Experiments, and a Population Study Establish Endothelial Nitric Oxide Synthase (eNOS) Gene as Hypertension Susceptibility Gene

Author: Salvi, Erika, Kuznetsova, Tatiana, Thijs, Lutgarde, Lupoli, Sara, Stolarz-Skrzypek, Katarzyna, D'Avila, Francesca, Tikhonoff, Valerie, De Astis, Silvia, Barcella, Matteo, Seidlerova, Jitka, Benaglio, Paola, Malyutina, Sofia, Frau, Francesca, Velayutham, Dinesh, Benfante, Roberta, Zagato, Laura, Title, Alexandra, Braga, Daniele, Marek, Diana, Kawecka-Jaszcz, Kalina, Casiglia, Edoardo, Filipovsky, Jan, Nikitin, Yuri, Rivolta, Carlo, Manunta, Paolo, Beckmann, Jacques S., Barlassina, Cristina, Cusi, Daniele, Staessen, Jan A., Czarnecka, Danuta, Gąsowski, Jerzy, Grodzicki, Tomasz, Kloch-Badełek, Małgorzata, Olszanecka, Agnieszka, Wizner, Barbara, Epidemiologie, RS: CARIM School for Cardiovascular Diseases, Salvi, E, Kuznetsova, T, Thijs, L, Lupoli, S, STOLARZ SKRZYPEK, K, D'Avila, F, Tikhonoff, V, DE ASTIS, S, Barcella, M, Seidlerová, J, Benaglio, P, Malyutina, S, Frau, F, Velayutham, D, Benfante, R, Zagato, L, Title, A, Braga, D, Marek, D, KAWECKA JASZCZ, K, Casiglia, E, Filipovsky, J, Nikitin, Y, Rivolta, C, Manunta, Paolo, Beckmann, J, Barlassina, C, Cusi, D, and Staessen, J. A.
Subjects: Adult, Male, medicine.medical_specialty, hypertension, Genotype, Nitric Oxide Synthase Type III, Endothelium, Population, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, target sequencing, population science, Enos, Internal medicine, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, endothelial nitric oxide synthase gene, Allele, Promoter Regions, Genetic, education, Alleles, 030304 developmental biology, 0303 health sciences, education.field_of_study, blood pressure, Promoter, Middle Aged, biology.organism_classification, Molecular biology, Endocrinology, medicine.anatomical_structure, Blood pressure, transfection, Case-Control Studies, Population study, Female, Endothelium, Vascular
Abstract: A case–control study revealed association between hypertension and rs3918226 in the endothelial nitric oxide synthase ( eNOS ) gene promoter (minor/major allele, T/C allele). We aimed at substantiating these preliminary findings by target sequencing, cell experiments, and a population study. We sequenced the 140-kb genomic area encompassing the eNOS gene. In HeLa and HEK293T cells transfected with the eNOS promoter carrying either the T or the C allele, we quantified transcription by luciferase assay. In 2722 randomly recruited Europeans (53.0% women; mean age 40.1 years), we studied blood pressure change and incidence of hypertension in relation to rs3918226, using multivariable-adjusted models. Sequencing confirmed rs3918226, a binding site of E-twenty six transcription factors, as the single nucleotide polymorphism most closely associated with hypertension. In T compared with C transfected cells, eNOS promoter activity was from 20% to 40% ( P TT homozygotes and by 3.8/1.9 mm Hg in 2694 C allele carriers ( P ≤0.0004). The blood pressure rise was 5.9 mm Hg systolic (confidence interval [CI], 0.6–11.1; P =0.028) and 4.8 mm Hg diastolic (CI, 1.5–8.2; P =0.0046) greater in TT homozygotes, with no differences between the CT and CC genotypes ( P ≥0.90). Among 2013 participants normotensive at baseline, 692 (34.4%) developed hypertension. The hazard ratio and attributable risk associated with TT homozygosity were 2.04 (CI, 1.24–3.37; P =0.0054) and 51.0%, respectively. In conclusion, rs3918226 in the eNOS promoter tags a hypertension susceptibility locus, TT homozygosity being associated with lesser transcription and higher risk of hypertension.
Published: 2013

19. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, Cupples, L Adrienne, Justice, Anne E, Winkler, Thomas W, Feitosa, Mary F, Graff, Misa, Fisher, Virginia A, Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S, Ahluwalia, Tarunveer S, Chu, Audrey Y, Heard-Costa, Nancy L, Lim, Elise, Perez, Jeremiah, Eicher, John D, Kutalik, Zoltan, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F, Bonnefond, Amelie, Bragg, Jennifer, Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Neergaard Harder, Marie, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E, Jackson, Anne U, Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E, Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikainen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Muller-Nurasyid, Martina, Navarro, Pau, Perusse, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A, Stancakova, Alena, Strawbridge, Rona J, Stringham, Heather M, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van der Most, Peter J, Van Vliet-Ostaptchouk, Jana V, Vedantam, Sailaja L, Verweij, Niek, Vink, Jacqueline M, Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Hua Zhao, Jing, Zimmermann, Martina E, Zubair, Niha, Abecasis, Goncalo R, Adair, Linda S, Afaq, Saima, Afzal, Uzma, Bakker, Stephan J L, Bartz, Traci M, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Braga, Daniele, Buckley, Brendan M, Buyske, Steve, Campbell, Harry, Chambers, John C, Collins, Francis S, Curran, Joanne E, de Borst, Gert J, de Craen, Anton J M, de Geus, Eco J C, Dedoussis, George, Delgado, Graciela E, den Ruijter, Hester M, Eiriksdottir, Gudny, Eriksson, Anna L, Esko, Tonu, Faul, Jessica D, Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B, Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B, Hartman, Catharina A, Hassinen, Maija, Hastie, Nicholas D, Heath, Andrew C, Hernandez, Dena, Hindorff, Lucia, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Jan Hottenga, Jouke, Huang, Jie, Hung, Joseph, Hutri-Kahonen, Nina, Ingelsson, Erik, James, Alan L, Jansson, John-Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E, Juonala, Markus, Kahonen, Mika, Karlsson, Magnus, Koistinen, Heikki A, Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Kramer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A, Langenberg, Claudia, Launer, Lenore J, Leander, Karin, Lee, Nanette R, Lind, Lars, Lindgren, Cecilia M, Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A F, Mannikko, Reija, Marques-Vidal, Pedro, Martin, Nicholas G, McKenzie, Colin A, McKnight, Barbara, Mellstrom, Dan, Menni, Cristina, Montgomery, Grant W, Musk, Aw Bill, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Oldehinkel, Albertine J, Olden, Matthias, Ong, Ken K, Padmanabhan, Sandosh, Peyser, Patricia A, Pisinger, Charlotta, Porteous, David J, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rasmussen-Torvik, Laura J, Rawal, Rajesh, Rice, Treva, Ridker, Paul M, Rose, Lynda M, Bien, Stephanie A, Rudan, Igor, Sanna, Serena, Sarzynski, Mark A, Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A, Sennblad, Bengt, Siemelink, Marten A, Silbernagel, Gunther, Slagboom, P Eline, Snieder, Harold, Staessen, Jan A, Stott, David J, Swertz, Morris A, Swift, Amy J, Taylor, Kent D, Tayo, Bamidele O, Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Volzke, Henry, Vonk, Judith M, Waeber, Gerard, Waldenberger, Melanie, Westendorp, R G J, Wild, Sarah, Willemsen, Gonneke, Wolffenbuttel, Bruce H R, Wong, Andrew, Wright, Alan F, Zhao, Wei, Zillikens, M Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Boger, Carsten A, Boomsma, Dorret I, Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I, Chen, Yii-DerIda, Chines, Peter S, Cooper, Richard S, Cucca, Francesco, Cusi, Daniele, Faire, Ulf de, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans-Jorgen, Gudnason, Vilmundur, Haiman, Christopher A, Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D, Wouter Jukema, J, Kardia, Sharon L R, Kivimaki, Mika, Kooner, Jaspal S, Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Marchand, Loic Le, Marz, Winfried, McCarthy, Mark I, Metspalu, Andres, Morris, Andrew P, Ohlsson, Claes, Palmer, Lyle J, Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M, Qi, Lu, Rauramaa, Rainer, Smith, Blair H, Sorensen, Thorkild I A, Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J, Weir, David R, Whitfield, John B, Wilson, James F, Tyrrell, Jessica, Frayling, Timothy M, Barroso, Ines, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S, Hirschhorn, Joel N, Hunter, David J, Spector, Tim D, Strachan, David P, van Duijn, Cornelia M, Heid, Iris M, Mohlke, Karen L, Marchini, Jonathan, Loos, Ruth J F, Kilpelainen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B, North, Kari E, and Cupples, L Adrienne
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
Published: 2017
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20. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E., Winkler, Thomas W., Feitosa, Mary F., Graff, Misa, Fisher, Virginia A., Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S., Ahluwalia, Tarunveer S., Chu, Audrey Y, Heard-Costa, Nancy L., Lim, Elise, Perez, Jeremiah, Eicher, John D., Kutalik, Zolta'n, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C., Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F., Bonnefond, Amelie, Bragg-Gresham, Jennifer L., Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Harder, Marie Neergaard, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E., Jackson, Anne U., Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E., Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pe'russe, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A., Stanča'kova, Alena, Strawbridge, Rona J., Stringham, Heather M., Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, Van Der Laan, Sander W., van der Most, Peter J., Van Vliet-Ostaptchouk, Jana V., Vedantam, Sailaja L., Verweij, Niek, Vink, Jacqueline M., Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zimmermann, Martina E., Zubair, Niha, Abecasis, Gonçalo R., Adair, Linda S., Afaq, Saima, Afzal, Uzma, Bakker, Stephan J. L., Bartz, Traci M., Beilby, John, Bergman, Richard N., Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin P., Braga, Daniele, Buckley, Brendan M., Buyske, Steve, Campbell, Harry, Chambers, John C., Collins, Francis S., Curran, Joanne E., De Borst, Gert J., De Craen, Anton J M, de Geus, Eco J. C., Dedoussis, George, Delgado, Graciela E., Den Ruijter, Hester M., Eiriksdottir, Gudny, Eriksson, Anna L., Esko, Toñu, Faul, Jessica D., Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B., Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B., Hartman, Catharina A., Hassinen, Maija, Hastie, Nicholas D., Heath, Andrew C., Hernandez, Dena G., Hindorff, Lucia A., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L., Jansson, John Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E., Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A., Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A., Langenberg, Claudia, Launer, Lenore J., Leander, Karin, Lee, Nanette R., Lind, Lars, Lindgren, Cecilia M., Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A. F., Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., McKenzie, Colin A., McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Arthur W., Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M., Oldehinkel, Albertine J., Olden, Matthias, Ong, Ken K., Padmanabhan, Sandosh, Peyser, Patricia A., Pisinger, Charlotta, Porteous, David J., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rasmussen-Torvik, Laura J., Rawal, Rajesh, Rice, Treva K., Ridker, Paul M., Rose, Lynda M., Bien, Stephanie A., Rudan, Igor, Sanna, Serena, Sarzynski, Mark A., Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A., Sennblad, Bengt, Siemelink, Marten A., Silbernagel, Günther, Slagboom, P. Eline, Snieder, Harold, Staessen, Jan A., Stott, David J., Swertz, Morris A., Swift, Amy J., Taylor, Kent D., Tayo, Bamidele O., Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M., Waeber, Ge'rard, Waldenberger, Melanie, Westendorp, Rudi G. J., Wild, Sarah H., Willemsen, Gonneke, Wolffenbuttel, Bruce H.R., Wong, Andrew, Wright, Alan F., Zhao, Wei, Zillikens, M. Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I., Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I., Ida Chen, Yii Der, Chines, Peter S., Cooper, Richard S., Cucca, Francesco, Cusi, Daniele, de Faire, Ulf, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A., Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D., Jukema, J. Wouter, Kardia, Sharon L. R., Kivimaki, Mika, Kooner, Jaspal S., Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Le Marchand, Loic, März, Winfried, McCarthy, Mark I., Metspalu, Andres, Morris, Andrew P., Ohlsson, Claes, Palmer, Lyle J., Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M., Qi, Lu, Rauramaa, Rainer, Smith, Blair H., Sorensen, Thorkild I. A., Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J., Weir, David R., Whitfield, John B., Wilson, James F., Tyrrell, Jessica, Frayling, Timothy M., Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S., Hirschhorn, Joel N., Hunter, David J., Spector, Tim D., Strachan, David P., Van Duijn, Cornelia M., Heid, Iris M., Mohlke, Karen L., Marchini, Jonathan, Loos, Ruth J. F., Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B., North, Kari E., Cupples, L. Adrienne, Justice, Anne E., Winkler, Thomas W., Feitosa, Mary F., Graff, Misa, Fisher, Virginia A., Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S., Ahluwalia, Tarunveer S., Chu, Audrey Y, Heard-Costa, Nancy L., Lim, Elise, Perez, Jeremiah, Eicher, John D., Kutalik, Zolta'n, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C., Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F., Bonnefond, Amelie, Bragg-Gresham, Jennifer L., Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Harder, Marie Neergaard, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E., Jackson, Anne U., Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E., Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pe'russe, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A., Stanča'kova, Alena, Strawbridge, Rona J., Stringham, Heather M., Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, Van Der Laan, Sander W., van der Most, Peter J., Van Vliet-Ostaptchouk, Jana V., Vedantam, Sailaja L., Verweij, Niek, Vink, Jacqueline M., Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zimmermann, Martina E., Zubair, Niha, Abecasis, Gonçalo R., Adair, Linda S., Afaq, Saima, Afzal, Uzma, Bakker, Stephan J. L., Bartz, Traci M., Beilby, John, Bergman, Richard N., Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin P., Braga, Daniele, Buckley, Brendan M., Buyske, Steve, Campbell, Harry, Chambers, John C., Collins, Francis S., Curran, Joanne E., De Borst, Gert J., De Craen, Anton J M, de Geus, Eco J. C., Dedoussis, George, Delgado, Graciela E., Den Ruijter, Hester M., Eiriksdottir, Gudny, Eriksson, Anna L., Esko, Toñu, Faul, Jessica D., Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B., Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B., Hartman, Catharina A., Hassinen, Maija, Hastie, Nicholas D., Heath, Andrew C., Hernandez, Dena G., Hindorff, Lucia A., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L., Jansson, John Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E., Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A., Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A., Langenberg, Claudia, Launer, Lenore J., Leander, Karin, Lee, Nanette R., Lind, Lars, Lindgren, Cecilia M., Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A. F., Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., McKenzie, Colin A., McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Arthur W., Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M., Oldehinkel, Albertine J., Olden, Matthias, Ong, Ken K., Padmanabhan, Sandosh, Peyser, Patricia A., Pisinger, Charlotta, Porteous, David J., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rasmussen-Torvik, Laura J., Rawal, Rajesh, Rice, Treva K., Ridker, Paul M., Rose, Lynda M., Bien, Stephanie A., Rudan, Igor, Sanna, Serena, Sarzynski, Mark A., Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A., Sennblad, Bengt, Siemelink, Marten A., Silbernagel, Günther, Slagboom, P. Eline, Snieder, Harold, Staessen, Jan A., Stott, David J., Swertz, Morris A., Swift, Amy J., Taylor, Kent D., Tayo, Bamidele O., Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M., Waeber, Ge'rard, Waldenberger, Melanie, Westendorp, Rudi G. J., Wild, Sarah H., Willemsen, Gonneke, Wolffenbuttel, Bruce H.R., Wong, Andrew, Wright, Alan F., Zhao, Wei, Zillikens, M. Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I., Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I., Ida Chen, Yii Der, Chines, Peter S., Cooper, Richard S., Cucca, Francesco, Cusi, Daniele, de Faire, Ulf, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A., Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D., Jukema, J. Wouter, Kardia, Sharon L. R., Kivimaki, Mika, Kooner, Jaspal S., Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Le Marchand, Loic, März, Winfried, McCarthy, Mark I., Metspalu, Andres, Morris, Andrew P., Ohlsson, Claes, Palmer, Lyle J., Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M., Qi, Lu, Rauramaa, Rainer, Smith, Blair H., Sorensen, Thorkild I. A., Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J., Weir, David R., Whitfield, John B., Wilson, James F., Tyrrell, Jessica, Frayling, Timothy M., Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S., Hirschhorn, Joel N., Hunter, David J., Spector, Tim D., Strachan, David P., Van Duijn, Cornelia M., Heid, Iris M., Mohlke, Karen L., Marchini, Jonathan, Loos, Ruth J. F., Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B., North, Kari E., and Cupples, L. Adrienne
Published: 2017

21. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: UMC Utrecht, Experimentele Afd. Cardiologie 1, Circulatory Health, In Vivo NMR ISI, Verpleegafd Vaatchirurgie D4 Oost, Onderzoek Vrouw Hart & Vaatziekten, Justice, Anne E., Winkler, Thomas W., Feitosa, Mary F., Graff, Misa, Fisher, Virginia A., Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S., Ahluwalia, Tarunveer S., Chu, Audrey Y, Heard-Costa, Nancy L., Lim, Elise, Perez, Jeremiah, Eicher, John D., Kutalik, Zolta'n, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C., Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F., Bonnefond, Amelie, Bragg-Gresham, Jennifer L., Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Harder, Marie Neergaard, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E., Jackson, Anne U., Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E., Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pe'russe, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A., Stanča'kova, Alena, Strawbridge, Rona J., Stringham, Heather M., Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, Van Der Laan, Sander W., van der Most, Peter J., Van Vliet-Ostaptchouk, Jana V., Vedantam, Sailaja L., Verweij, Niek, Vink, Jacqueline M., Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zimmermann, Martina E., Zubair, Niha, Abecasis, Gonçalo R., Adair, Linda S., Afaq, Saima, Afzal, Uzma, Bakker, Stephan J. L., Bartz, Traci M., Beilby, John, Bergman, Richard N., Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin P., Braga, Daniele, Buckley, Brendan M., Buyske, Steve, Campbell, Harry, Chambers, John C., Collins, Francis S., Curran, Joanne E., De Borst, Gert J., De Craen, Anton J M, de Geus, Eco J. C., Dedoussis, George, Delgado, Graciela E., Den Ruijter, Hester M., Eiriksdottir, Gudny, Eriksson, Anna L., Esko, Toñu, Faul, Jessica D., Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B., Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B., Hartman, Catharina A., Hassinen, Maija, Hastie, Nicholas D., Heath, Andrew C., Hernandez, Dena G., Hindorff, Lucia A., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L., Jansson, John Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E., Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A., Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A., Langenberg, Claudia, Launer, Lenore J., Leander, Karin, Lee, Nanette R., Lind, Lars, Lindgren, Cecilia M., Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A. F., Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., McKenzie, Colin A., McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Arthur W., Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M., Oldehinkel, Albertine J., Olden, Matthias, Ong, Ken K., Padmanabhan, Sandosh, Peyser, Patricia A., Pisinger, Charlotta, Porteous, David J., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rasmussen-Torvik, Laura J., Rawal, Rajesh, Rice, Treva K., Ridker, Paul M., Rose, Lynda M., Bien, Stephanie A., Rudan, Igor, Sanna, Serena, Sarzynski, Mark A., Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A., Sennblad, Bengt, Siemelink, Marten A., Silbernagel, Günther, Slagboom, P. Eline, Snieder, Harold, Staessen, Jan A., Stott, David J., Swertz, Morris A., Swift, Amy J., Taylor, Kent D., Tayo, Bamidele O., Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M., Waeber, Ge'rard, Waldenberger, Melanie, Westendorp, Rudi G. J., Wild, Sarah H., Willemsen, Gonneke, Wolffenbuttel, Bruce H.R., Wong, Andrew, Wright, Alan F., Zhao, Wei, Zillikens, M. Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I., Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I., Ida Chen, Yii Der, Chines, Peter S., Cooper, Richard S., Cucca, Francesco, Cusi, Daniele, de Faire, Ulf, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A., Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D., Jukema, J. Wouter, Kardia, Sharon L. R., Kivimaki, Mika, Kooner, Jaspal S., Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Le Marchand, Loic, März, Winfried, McCarthy, Mark I., Metspalu, Andres, Morris, Andrew P., Ohlsson, Claes, Palmer, Lyle J., Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M., Qi, Lu, Rauramaa, Rainer, Smith, Blair H., Sorensen, Thorkild I. A., Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J., Weir, David R., Whitfield, John B., Wilson, James F., Tyrrell, Jessica, Frayling, Timothy M., Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S., Hirschhorn, Joel N., Hunter, David J., Spector, Tim D., Strachan, David P., Van Duijn, Cornelia M., Heid, Iris M., Mohlke, Karen L., Marchini, Jonathan, Loos, Ruth J. F., Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B., North, Kari E., Cupples, L. Adrienne, UMC Utrecht, Experimentele Afd. Cardiologie 1, Circulatory Health, In Vivo NMR ISI, Verpleegafd Vaatchirurgie D4 Oost, Onderzoek Vrouw Hart & Vaatziekten, Justice, Anne E., Winkler, Thomas W., Feitosa, Mary F., Graff, Misa, Fisher, Virginia A., Young, Kristin L, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S., Ahluwalia, Tarunveer S., Chu, Audrey Y, Heard-Costa, Nancy L., Lim, Elise, Perez, Jeremiah, Eicher, John D., Kutalik, Zolta'n, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph C., Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F., Bonnefond, Amelie, Bragg-Gresham, Jennifer L., Cadby, Gemma, Chittani, Martina, Coggeshall, Scott, Corre, Tanguy, Direk, Nese, Eriksson, Joel, Fischer, Krista, Gorski, Mathias, Harder, Marie Neergaard, Horikoshi, Momoko, Huang, Tao, Huffman, Jennifer E., Jackson, Anne U., Justesen, Johanne Marie, Kanoni, Stavroula, Kinnunen, Leena, Kleber, Marcus E., Komulainen, Pirjo, Kumari, Meena, Lim, Unhee, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Middelberg, Rita P S, Müller-Nurasyid, Martina, Navarro, Pau, Pe'russe, Louis, Pervjakova, Natalia, Sarti, Cinzia, Smith, Albert Vernon, Smith, Jennifer A., Stanča'kova, Alena, Strawbridge, Rona J., Stringham, Heather M., Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, Van Der Laan, Sander W., van der Most, Peter J., Van Vliet-Ostaptchouk, Jana V., Vedantam, Sailaja L., Verweij, Niek, Vink, Jacqueline M., Vitart, Veronique, Wu, Ying, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zimmermann, Martina E., Zubair, Niha, Abecasis, Gonçalo R., Adair, Linda S., Afaq, Saima, Afzal, Uzma, Bakker, Stephan J. L., Bartz, Traci M., Beilby, John, Bergman, Richard N., Bergmann, Sven, Biffar, Reiner, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin P., Braga, Daniele, Buckley, Brendan M., Buyske, Steve, Campbell, Harry, Chambers, John C., Collins, Francis S., Curran, Joanne E., De Borst, Gert J., De Craen, Anton J M, de Geus, Eco J. C., Dedoussis, George, Delgado, Graciela E., Den Ruijter, Hester M., Eiriksdottir, Gudny, Eriksson, Anna L., Esko, Toñu, Faul, Jessica D., Ford, Ian, Forrester, Terrence, Gertow, Karl, Gigante, Bruna, Glorioso, Nicola, Gong, Jian, Grallert, Harald, Grammer, Tanja B., Grarup, Niels, Haitjema, Saskia, Hallmans, Göran, Hamsten, Anders, Hansen, Torben, Harris, Tamara B., Hartman, Catharina A., Hassinen, Maija, Hastie, Nicholas D., Heath, Andrew C., Hernandez, Dena G., Hindorff, Lucia A., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L, Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jie, Hung, Joseph, Hutri-Kähönen, Nina, Ingelsson, Erik, James, Alan L., Jansson, John Olov, Jarvelin, Marjo-Riitta, Jhun, Min A, Jorgensen, Marit E., Juonala, Markus, Kähönen, Mika, Karlsson, Magnus, Koistinen, Heikki A., Kolcic, Ivana, Kolovou, Genovefa, Kooperberg, Charles, Krämer, Bernhard K, Kuusisto, Johanna, Kvaloy, Kirsti, Lakka, Timo A., Langenberg, Claudia, Launer, Lenore J., Leander, Karin, Lee, Nanette R., Lind, Lars, Lindgren, Cecilia M., Linneberg, Allan, Lobbens, Stephane, Loh, Marie, Lorentzon, Mattias, Luben, Robert, Lubke, Gitta, Ludolph-Donislawski, Anja, Lupoli, Sara, Madden, Pamela A. F., Männikkö, Reija, Marques-Vidal, Pedro, Martin, Nicholas G., McKenzie, Colin A., McKnight, Barbara, Mellström, Dan, Menni, Cristina, Montgomery, Grant W., Musk, Arthur W., Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M., Oldehinkel, Albertine J., Olden, Matthias, Ong, Ken K., Padmanabhan, Sandosh, Peyser, Patricia A., Pisinger, Charlotta, Porteous, David J., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rasmussen-Torvik, Laura J., Rawal, Rajesh, Rice, Treva K., Ridker, Paul M., Rose, Lynda M., Bien, Stephanie A., Rudan, Igor, Sanna, Serena, Sarzynski, Mark A., Sattar, Naveed, Savonen, Kai, Schlessinger, David, Scholtens, Salome, Schurmann, Claudia, Scott, Robert A., Sennblad, Bengt, Siemelink, Marten A., Silbernagel, Günther, Slagboom, P. Eline, Snieder, Harold, Staessen, Jan A., Stott, David J., Swertz, Morris A., Swift, Amy J., Taylor, Kent D., Tayo, Bamidele O., Thorand, Barbara, Thuillier, Dorothee, Tuomilehto, Jaakko, Uitterlinden, Andre G, Vandenput, Liesbeth, Vohl, Marie-Claude, Völzke, Henry, Vonk, Judith M., Waeber, Ge'rard, Waldenberger, Melanie, Westendorp, Rudi G. J., Wild, Sarah H., Willemsen, Gonneke, Wolffenbuttel, Bruce H.R., Wong, Andrew, Wright, Alan F., Zhao, Wei, Zillikens, M. Carola, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Böger, Carsten A, Boomsma, Dorret I., Bouchard, Claude, Bruinenberg, Marcel, Chasman, Daniel I., Ida Chen, Yii Der, Chines, Peter S., Cooper, Richard S., Cucca, Francesco, Cusi, Daniele, de Faire, Ulf, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Gordon-Larsen, Penny, Grabe, Hans Jörgen, Gudnason, Vilmundur, Haiman, Christopher A., Hayward, Caroline, Hveem, Kristian, Johnson, Andrew D., Jukema, J. Wouter, Kardia, Sharon L. R., Kivimaki, Mika, Kooner, Jaspal S., Kuh, Diana, Laakso, Markku, Lehtimäki, Terho, Le Marchand, Loic, März, Winfried, McCarthy, Mark I., Metspalu, Andres, Morris, Andrew P., Ohlsson, Claes, Palmer, Lyle J., Pasterkamp, Gerard, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Psaty, Bruce M., Qi, Lu, Rauramaa, Rainer, Smith, Blair H., Sorensen, Thorkild I. A., Strauch, Konstantin, Tiemeier, Henning, Tremoli, Elena, van der Harst, Pim, Vestergaard, Henrik, Vollenweider, Peter, Wareham, Nicholas J., Weir, David R., Whitfield, John B., Wilson, James F., Tyrrell, Jessica, Frayling, Timothy M., Barroso, Inês, Boehnke, Michael, Deloukas, Panagiotis, Fox, Caroline S., Hirschhorn, Joel N., Hunter, David J., Spector, Tim D., Strachan, David P., Van Duijn, Cornelia M., Heid, Iris M., Mohlke, Karen L., Marchini, Jonathan, Loos, Ruth J. F., Kilpeläinen, Tuomas O, Liu, Ching-Ti, Borecki, Ingrid B., North, Kari E., and Cupples, L. Adrienne
Published: 2017

22. Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study

Author: Rizzi, Federica, Conti, Costanza, Dogliotti, Elena, Terranegra, Annalisa, Salvi, Erika, Braga, Daniele, Ricca, Flavia, Lupoli, Sara, Mingione, Alessandra, Pivari, Francesca, Brasacchio, Caterina, Barcella, Matteo, Chittani, Martina, D’Avila, Francesca, Turiel, Maurizio, Lazzaroni, Monica, Soldati, Laura, Cusi, Daniele, and Barlassina, Cristina
Subjects: Medicine(all), Lipid profile, Anthocyanins, Genetic variants, Nutrigenomics, HDL, PON1 gene, Biochemistry, Genetics and Molecular Biology(all), food and beverages, Polyphenols, Gene diet interaction, Antioxidants
Abstract: Background: Paraoxonase 1 (PON1) gene polymorphisms and polyphenols intake have been reported independently associated to lipid profile and susceptibility to atherosclerosis and cardiovascular disease. However, the interaction between these factors remains to be investigated. We performed an observational nutrigenetic study to examine whether the interaction between polyphenols and anthocyanins intake and PON1 genetic variants can modulate biomarkers of cardiovascular health in an Italian healthy population. Methods: We recruited 443 healthy volunteers who participated in the EC funded ATHENA project (AnThocyanin and polyphenols bioactive for Health Enhancement through Nutritional Advancement). Data collection included detailed demographic, clinical, dietary, lifestyle, biochemical and genetic data. Polyphenols and anthocyanins intake was measured by 24 h dietary recall repeated three times a year in order to get seasonal variations. We tested the interaction between 18 independent tagging SNPs in PON1 gene and polyphenols intake on HDL, LDL, cholesterol, triglycerides and atherogenic index of plasma. Results: Without considering the genetic background, we could not observe significant differences in the lipid profile between high and low polyphenols and anthocyanins intake. Using a nutrigenetic approach, we identified protective genotypes in four independent polymorphisms that, at Bonferroni level (p
Published: 2016

23. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, Anne E., primary, Winkler, Thomas W., additional, Feitosa, Mary F., additional, Graff, Misa, additional, Fisher, Virginia A., additional, Young, Kristin, additional, Barata, Llilda, additional, Deng, Xuan, additional, Czajkowski, Jacek, additional, Hadley, David, additional, Ngwa, Julius S., additional, Ahluwalia, Tarunveer S., additional, Chu, Audrey Y., additional, Heard-Costa, Nancy L., additional, Lim, Elise, additional, Perez, Jeremiah, additional, Eicher, John D., additional, Kutalik, Zoltán, additional, Xue, Luting, additional, Mahajan, Anubha, additional, Renström, Frida, additional, Wu, Joseph, additional, Qi, Qibin, additional, Ahmad, Shafqat, additional, Alfred, Tamuno, additional, Amin, Najaf, additional, Bielak, Lawrence F., additional, Bonnefond, Amelie, additional, Bragg, Jennifer, additional, Cadby, Gemma, additional, Chittani, Martina, additional, Coggeshall, Scott, additional, Corre, Tanguy, additional, Direk, Nese, additional, Eriksson, Joel, additional, Fischer, Krista, additional, Gorski, Mathias, additional, Neergaard Harder, Marie, additional, Horikoshi, Momoko, additional, Huang, Tao, additional, Huffman, Jennifer E., additional, Jackson, Anne U., additional, Justesen, Johanne Marie, additional, Kanoni, Stavroula, additional, Kinnunen, Leena, additional, Kleber, Marcus E., additional, Komulainen, Pirjo, additional, Kumari, Meena, additional, Lim, Unhee, additional, Luan, Jian'an, additional, Lyytikäinen, Leo-Pekka, additional, Mangino, Massimo, additional, Manichaikul, Ani, additional, Marten, Jonathan, additional, Middelberg, Rita P. S., additional, Müller-Nurasyid, Martina, additional, Navarro, Pau, additional, Pérusse, Louis, additional, Pervjakova, Natalia, additional, Sarti, Cinzia, additional, Smith, Albert Vernon, additional, Smith, Jennifer A., additional, Stančáková, Alena, additional, Strawbridge, Rona J., additional, Stringham, Heather M., additional, Sung, Yun Ju, additional, Tanaka, Toshiko, additional, Teumer, Alexander, additional, Trompet, Stella, additional, van der Laan, Sander W., additional, van der Most, Peter J., additional, Van Vliet-Ostaptchouk, Jana V., additional, Vedantam, Sailaja L., additional, Verweij, Niek, additional, Vink, Jacqueline M., additional, Vitart, Veronique, additional, Wu, Ying, additional, Yengo, Loic, additional, Zhang, Weihua, additional, Hua Zhao, Jing, additional, Zimmermann, Martina E., additional, Zubair, Niha, additional, Abecasis, Gonçalo R., additional, Adair, Linda S., additional, Afaq, Saima, additional, Afzal, Uzma, additional, Bakker, Stephan J. L., additional, Bartz, Traci M., additional, Beilby, John, additional, Bergman, Richard N., additional, Bergmann, Sven, additional, Biffar, Reiner, additional, Blangero, John, additional, Boerwinkle, Eric, additional, Bonnycastle, Lori L., additional, Bottinger, Erwin, additional, Braga, Daniele, additional, Buckley, Brendan M., additional, Buyske, Steve, additional, Campbell, Harry, additional, Chambers, John C., additional, Collins, Francis S., additional, Curran, Joanne E., additional, de Borst, Gert J., additional, de Craen, Anton J. M., additional, de Geus, Eco J. C., additional, Dedoussis, George, additional, Delgado, Graciela E., additional, den Ruijter, Hester M., additional, Eiriksdottir, Gudny, additional, Eriksson, Anna L., additional, Esko, Tõnu, additional, Faul, Jessica D., additional, Ford, Ian, additional, Forrester, Terrence, additional, Gertow, Karl, additional, Gigante, Bruna, additional, Glorioso, Nicola, additional, Gong, Jian, additional, Grallert, Harald, additional, Grammer, Tanja B., additional, Grarup, Niels, additional, Haitjema, Saskia, additional, Hallmans, Göran, additional, Hamsten, Anders, additional, Hansen, Torben, additional, Harris, Tamara B., additional, Hartman, Catharina A., additional, Hassinen, Maija, additional, Hastie, Nicholas D., additional, Heath, Andrew C., additional, Hernandez, Dena, additional, Hindorff, Lucia, additional, Hocking, Lynne J., additional, Hollensted, Mette, additional, Holmen, Oddgeir L., additional, Homuth, Georg, additional, Jan Hottenga, Jouke, additional, Huang, Jie, additional, Hung, Joseph, additional, Hutri-Kähönen, Nina, additional, Ingelsson, Erik, additional, James, Alan L., additional, Jansson, John-Olov, additional, Jarvelin, Marjo-Riitta, additional, Jhun, Min A., additional, Jørgensen, Marit E., additional, Juonala, Markus, additional, Kähönen, Mika, additional, Karlsson, Magnus, additional, Koistinen, Heikki A., additional, Kolcic, Ivana, additional, Kolovou, Genovefa, additional, Kooperberg, Charles, additional, Krämer, Bernhard K., additional, Kuusisto, Johanna, additional, Kvaløy, Kirsti, additional, Lakka, Timo A., additional, Langenberg, Claudia, additional, Launer, Lenore J., additional, Leander, Karin, additional, Lee, Nanette R., additional, Lind, Lars, additional, Lindgren, Cecilia M., additional, Linneberg, Allan, additional, Lobbens, Stephane, additional, Loh, Marie, additional, Lorentzon, Mattias, additional, Luben, Robert, additional, Lubke, Gitta, additional, Ludolph-Donislawski, Anja, additional, Lupoli, Sara, additional, Madden, Pamela A. F., additional, Männikkö, Reija, additional, Marques-Vidal, Pedro, additional, Martin, Nicholas G., additional, McKenzie, Colin A., additional, McKnight, Barbara, additional, Mellström, Dan, additional, Menni, Cristina, additional, Montgomery, Grant W., additional, Musk, AW, additional, Narisu, Narisu, additional, Nauck, Matthias, additional, Nolte, Ilja M., additional, Oldehinkel, Albertine J., additional, Olden, Matthias, additional, Ong, Ken K., additional, Padmanabhan, Sandosh, additional, Peyser, Patricia A., additional, Pisinger, Charlotta, additional, Porteous, David J., additional, Raitakari, Olli T., additional, Rankinen, Tuomo, additional, Rao, D. C., additional, Rasmussen-Torvik, Laura J., additional, Rawal, Rajesh, additional, Rice, Treva, additional, Ridker, Paul M., additional, Rose, Lynda M., additional, Bien, Stephanie A., additional, Rudan, Igor, additional, Sanna, Serena, additional, Sarzynski, Mark A., additional, Sattar, Naveed, additional, Savonen, Kai, additional, Schlessinger, David, additional, Scholtens, Salome, additional, Schurmann, Claudia, additional, Scott, Robert A., additional, Sennblad, Bengt, additional, Siemelink, Marten A., additional, Silbernagel, Günther, additional, Slagboom, P Eline, additional, Snieder, Harold, additional, Staessen, Jan A., additional, Stott, David J., additional, Swertz, Morris A., additional, Swift, Amy J., additional, Taylor, Kent D., additional, Tayo, Bamidele O., additional, Thorand, Barbara, additional, Thuillier, Dorothee, additional, Tuomilehto, Jaakko, additional, Uitterlinden, Andre G., additional, Vandenput, Liesbeth, additional, Vohl, Marie-Claude, additional, Völzke, Henry, additional, Vonk, Judith M., additional, Waeber, Gérard, additional, Waldenberger, Melanie, additional, Westendorp, R. G. J., additional, Wild, Sarah, additional, Willemsen, Gonneke, additional, Wolffenbuttel, Bruce H. R., additional, Wong, Andrew, additional, Wright, Alan F., additional, Zhao, Wei, additional, Zillikens, M Carola, additional, Baldassarre, Damiano, additional, Balkau, Beverley, additional, Bandinelli, Stefania, additional, Böger, Carsten A., additional, Boomsma, Dorret I., additional, Bouchard, Claude, additional, Bruinenberg, Marcel, additional, Chasman, Daniel I., additional, Chen, Yii-DerIda, additional, Chines, Peter S., additional, Cooper, Richard S., additional, Cucca, Francesco, additional, Cusi, Daniele, additional, Faire, Ulf de, additional, Ferrucci, Luigi, additional, Franks, Paul W., additional, Froguel, Philippe, additional, Gordon-Larsen, Penny, additional, Grabe, Hans- Jörgen, additional, Gudnason, Vilmundur, additional, Haiman, Christopher A., additional, Hayward, Caroline, additional, Hveem, Kristian, additional, Johnson, Andrew D., additional, Wouter Jukema, J, additional, Kardia, Sharon L. R., additional, Kivimaki, Mika, additional, Kooner, Jaspal S., additional, Kuh, Diana, additional, Laakso, Markku, additional, Lehtimäki, Terho, additional, Marchand, Loic Le, additional, März, Winfried, additional, McCarthy, Mark I., additional, Metspalu, Andres, additional, Morris, Andrew P., additional, Ohlsson, Claes, additional, Palmer, Lyle J., additional, Pasterkamp, Gerard, additional, Pedersen, Oluf, additional, Peters, Annette, additional, Peters, Ulrike, additional, Polasek, Ozren, additional, Psaty, Bruce M., additional, Qi, Lu, additional, Rauramaa, Rainer, additional, Smith, Blair H., additional, Sørensen, Thorkild I. A., additional, Strauch, Konstantin, additional, Tiemeier, Henning, additional, Tremoli, Elena, additional, van der Harst, Pim, additional, Vestergaard, Henrik, additional, Vollenweider, Peter, additional, Wareham, Nicholas J., additional, Weir, David R., additional, Whitfield, John B., additional, Wilson, James F., additional, Tyrrell, Jessica, additional, Frayling, Timothy M., additional, Barroso, Inês, additional, Boehnke, Michael, additional, Deloukas, Panagiotis, additional, Fox, Caroline S., additional, Hirschhorn, Joel N., additional, Hunter, David J., additional, Spector, Tim D., additional, Strachan, David P., additional, van Duijn, Cornelia M., additional, Heid, Iris M., additional, Mohlke, Karen L., additional, Marchini, Jonathan, additional, Loos, Ruth J. F., additional, Kilpeläinen, Tuomas O., additional, Liu, Ching-Ti, additional, Borecki, Ingrid B., additional, North, Kari E., additional, and Cupples, L Adrienne, additional
Published: 2017
Full Text: View/download PDF

24. Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors

Author: Martinelli Boneschi, Filippo, Clerici, Francesca, Benussi, Luisa, Ghidoni, Roberta, Galimberti, Daniela, Squitti, Rosanna Confaloni, Annamaria, Bruno, Giuseppe, Pichler, Sabrina, Mayhaus, Manuel, Riemenschneider, Matthias, Giacalone, Giacomo, Mariani, Claudio, Scarpini, Elio, Binetti, Giuliano, Forloni, Gianluigi, Franceschi, Massimo, Albani, Diego, Magnani, Giuseppe, Biella, Gloria, Coppi, Elisabetta, Santangelo, Roberto, Brambilla, Paola, Esposito, Federica, Lupoli, Sara, COMI , GIANCARLO, Martinelli, Boneschi, Filippo, Clerici, Francesca, Benussi, Luisa, Ghidoni, Roberta, Galimberti, Daniela, Squitti, Rosanna, Confaloni, Annamaria, Bruno, Giuseppe, Pichler, Sabrina, Mayhau, Manuel, Riemenschneider, Matthias, Giacalone, Giacomo, Mariani, Claudio, Comi, Giancarlo, Scarpini, Elio, Binetti, Giuliano, Forloni, Gianluigi, Franceschi, Massimo, Albani, Diego, Magnani, Giuseppe, Biella, Gloria, Coppi, Elisabetta, Santangelo, Roberto, Brambilla, Paola, Esposito, Federica, and Lupoli, Sara
Published: 2013

25. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette Syndrome and Obsessive-Compulsive Disorder

Author: Yu, Dongmei, Mathews, Carol A., Scharf, Jeremiah M., Neale, Benjamin M., Davis, Lea K., Gamazon, Eric R., Derks, Eske M., Evans, Patrick, Edlund, Christopher K., Crane, Jacquelyn, Fagerness, Jesen A., Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M., Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L., Bellodi, Laura, Benarroch, Fortu, Berrió, Gabriel Bedoya, Bienvenu, O. Joseph, Black, Donald, Bloch, Michael H., Brentani, Helena, Bruun, Ruth D., Budman, Cathy L., Camarena, Beatriz, Campbell, Desmond D., Cappi, Carolina, Cardona Silgado, Julio C., Cavallini, Maria C., Chavira, Denise A., Chouinard, Sylvain, Cook, Edwin H., Cookson, M. R., Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, Delorme, Richard, Denys, Damiaan, Dion, Yves, Eapen, Valsama, Egberts, Karin, Falkai, Peter, Fernandez, Thomas, Fournier, Eduardo, Garrido, Helena, Geller, Daniel, Gilbert, Donald, Girard, Simon L., Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Gross-Tsur, Varda, Grünblatt, Edna, Hardy, John, Heiman, Gary A., Hemmings, Sian M.J., Herrera, Luis D., Hezel, Dianne M., Hoekstra, Pieter J., Jankovic, Joseph, Kennedy, James L., King, Robert A., Konkashbaev, Anuar I., Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L., Lupoli, Sara, Macciardi, Fabio, Maier, Wolfgang, Manunta, Paolo, Marconi, Maurizio, McCracken, James T., Mesa Restrepo, Sandra C., Moessner, Rainald, Moorjani, Priya, Morgan, Jubel, Muller, Heike, Murphy, Dennis L., Naarden, Allan L., Ochoa, William Cornejo, Ophoff, Roel A., Pakstis, Andrew J., Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L., Renner, Tobias, Reus, Victor I., Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Romero, Roxana, Rosário, Maria C., Rosenberg, David, Ruhrmann, Stephan, Sabatti, Chiara, Salvi, Erika, Sampaio, Aline S., Samuels, Jack, Sandor, Paul, Service, Susan K., Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein, Dan J., Strengman, Eric, Tischfield, Jay A., Turiel, Maurizio, Valencia Duarte, Ana V., Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Walkup, John, Wang, Ying, Weale, Mike, Weiss, Robert, Wendland, Jens R., Westenberg, Herman G.M., Yao, Yin, Hounie, Ana G., Miguel, Euripedes C., Nicolini, Humberto, Wagner, Michael, Ruiz-Linares, Andres, Cath, Danielle C., McMahon, William, Posthuma, Danielle, Oostra, Ben A., Nestadt, Gerald, Rouleau, Guy A., Purcell, Shaun, Jenike, Michael A., Heutink, Peter, Hanna, Gregory L., Conti, David V., Arnold, Paul D., Freimer, Nelson, Stewart, S. Evelyn, Knowles, James A., Cox, Nancy J., and Pauls, David L.
Subjects: Adult, Male, Psychiatric Status Rating Scales, Obsessive-Compulsive Disorder, Comorbidity, behavioral disciplines and activities, Polymorphism, Single Nucleotide, Severity of Illness Index, Article, mental disorders, Humans, Female, Genome-Wide Association Study, Tourette Syndrome
Abstract: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD.The authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders.Although no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01).Previous work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring Tourette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.
Published: 2014

26. Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study

Author: Rizzi, Federica, primary, Conti, Costanza, additional, Dogliotti, Elena, additional, Terranegra, Annalisa, additional, Salvi, Erika, additional, Braga, Daniele, additional, Ricca, Flavia, additional, Lupoli, Sara, additional, Mingione, Alessandra, additional, Pivari, Francesca, additional, Brasacchio, Caterina, additional, Barcella, Matteo, additional, Chittani, Martina, additional, D’Avila, Francesca, additional, Turiel, Maurizio, additional, Lazzaroni, Monica, additional, Soldati, Laura, additional, Cusi, Daniele, additional, and Barlassina, Cristina, additional
Published: 2016
Full Text: View/download PDF

27. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD

Author: Sub String Theory Cosmology and ElemPart, Leerstoel Hout, Experimental psychopathology, Yu, Dongmei, Mathews, Carol A, Scharf, Jeremiah M, Neale, Benjamin M, Davis, Lea K, Gamazon, Eric R, Derks, Eske M, Evans, Patrick, Edlund, Christopher K, Crane, Jacquelyn, Fagerness, Jesen A, Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M, Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrió, Gabriel Bedoya, Bienvenu, O Joseph, Black, Donald W, Bloch, Michael H, Brentani, Helena, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Campbell, Desmond D, Cappi, Carolina, Silgado, Julio C Cardona, Cavallini, Maria C, Chavira, Denise A, Chouinard, Sylvain, Cook, Edwin H, Cookson, M R, Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, Delorme, Richard, Denys, Damiaan, Dion, Yves, Eapen, Valsama, Egberts, Karin, Falkai, Peter, Fernandez, Thomas, Fournier, Eduardo, Garrido, Helena, Geller, Daniel, Gilbert, Donald L, Girard, Simon L, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Grünblatt, Edna, Hardy, John, Heiman, Gary A, Hemmings, Sian M J, Herrera, Luis D, Hezel, Dianne M, Hoekstra, Pieter J, Jankovic, Joseph, Kennedy, James L, King, Robert A, Konkashbaev, Anuar I, Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L, Lupoli, Sara, Macciardi, Fabio, Maier, Wolfgang, Manunta, Paolo, Marconi, Maurizio, McCracken, James T, Mesa Restrepo, Sandra C, Moessner, Rainald, Moorjani, Priya, Morgan, Jubel, Muller, Heike, Murphy, Dennis L, Naarden, Allan L, Nurmi, Erika, Ochoa, William Cornejo, Ophoff, Roel A, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L, Renner, Tobias, Reus, Victor I, Richter, Margaret A, Riddle, Mark A, Robertson, Mary M, Romero, Roxana, Rosário, Maria C, Rosenberg, David, Ruhrmann, Stephan, Sabatti, Chiara, Salvi, Erika, Sampaio, Aline S, Samuels, Jack, Sandor, Paul, Service, Susan K, Sheppard, Brooke, Singer, Harvey S, Smit, Jan H, Stein, Dan J, Strengman, Eric, Tischfield, Jay A, Turiel, Maurizio, Valencia Duarte, Ana V, Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Weale, Mike, Weiss, Robert, Wendland, Jens R, Westenberg, Herman G M, Shugart, Yin Yao, Hounie, Ana G, Miguel, Euripedes C, Nicolini, Humberto, Wagner, Michael, Ruiz-Linares, Andres, Cath, Danielle C, McMahon, William, Posthuma, Danielle, Oostra, Ben A, Nestadt, Gerald, Rouleau, Guy A, Purcell, Shaun, Jenike, Michael A, Heutink, Peter, Hanna, Gregory L, Conti, David V, Arnold, Paul D, Freimer, Nelson B, Stewart, S Evelyn, Knowles, James A, Cox, Nancy J, Pauls, David L, Sub String Theory Cosmology and ElemPart, Leerstoel Hout, Experimental psychopathology, Yu, Dongmei, Mathews, Carol A, Scharf, Jeremiah M, Neale, Benjamin M, Davis, Lea K, Gamazon, Eric R, Derks, Eske M, Evans, Patrick, Edlund, Christopher K, Crane, Jacquelyn, Fagerness, Jesen A, Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M, Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrió, Gabriel Bedoya, Bienvenu, O Joseph, Black, Donald W, Bloch, Michael H, Brentani, Helena, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Campbell, Desmond D, Cappi, Carolina, Silgado, Julio C Cardona, Cavallini, Maria C, Chavira, Denise A, Chouinard, Sylvain, Cook, Edwin H, Cookson, M R, Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, Delorme, Richard, Denys, Damiaan, Dion, Yves, Eapen, Valsama, Egberts, Karin, Falkai, Peter, Fernandez, Thomas, Fournier, Eduardo, Garrido, Helena, Geller, Daniel, Gilbert, Donald L, Girard, Simon L, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Grünblatt, Edna, Hardy, John, Heiman, Gary A, Hemmings, Sian M J, Herrera, Luis D, Hezel, Dianne M, Hoekstra, Pieter J, Jankovic, Joseph, Kennedy, James L, King, Robert A, Konkashbaev, Anuar I, Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L, Lupoli, Sara, Macciardi, Fabio, Maier, Wolfgang, Manunta, Paolo, Marconi, Maurizio, McCracken, James T, Mesa Restrepo, Sandra C, Moessner, Rainald, Moorjani, Priya, Morgan, Jubel, Muller, Heike, Murphy, Dennis L, Naarden, Allan L, Nurmi, Erika, Ochoa, William Cornejo, Ophoff, Roel A, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L, Renner, Tobias, Reus, Victor I, Richter, Margaret A, Riddle, Mark A, Robertson, Mary M, Romero, Roxana, Rosário, Maria C, Rosenberg, David, Ruhrmann, Stephan, Sabatti, Chiara, Salvi, Erika, Sampaio, Aline S, Samuels, Jack, Sandor, Paul, Service, Susan K, Sheppard, Brooke, Singer, Harvey S, Smit, Jan H, Stein, Dan J, Strengman, Eric, Tischfield, Jay A, Turiel, Maurizio, Valencia Duarte, Ana V, Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Weale, Mike, Weiss, Robert, Wendland, Jens R, Westenberg, Herman G M, Shugart, Yin Yao, Hounie, Ana G, Miguel, Euripedes C, Nicolini, Humberto, Wagner, Michael, Ruiz-Linares, Andres, Cath, Danielle C, McMahon, William, Posthuma, Danielle, Oostra, Ben A, Nestadt, Gerald, Rouleau, Guy A, Purcell, Shaun, Jenike, Michael A, Heutink, Peter, Hanna, Gregory L, Conti, David V, Arnold, Paul D, Freimer, Nelson B, Stewart, S Evelyn, Knowles, James A, Cox, Nancy J, and Pauls, David L
Published: 2015

28. Pharmacogenomics considerations in the control of hypertension

Author: Lupoli, Sara, primary, Salvi, Erika, additional, Barcella, Matteo, additional, and Barlassina, Cristina, additional
Published: 2015
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29. Defining the role of common variation in the genomic and biological architecture of adult human height

Author: Wood, Andrew R, Esko, Tonu, Yang, Jian, Vedantam, Sailaja, Pers, Tune H, Gustafsson, Stefan, Chu, Audrey Y, Estrada, Karol, Luan, Jian'an, Kutalik, Zoltán, Amin, Najaf, Buchkovich, Martin L, Croteau-Chonka, Damien C, Day, Felix R, Duan, Yanan, Fall, Tove, Fehrmann, Rudolf, Ferreira, Teresa, Jackson, Anne U, Karjalainen, Juha, Lo, Ken Sin, Locke, Adam E, Mägi, Reedik, Mihailov, Evelin, Porcu, Eleonora, Randall, Joshua C, Scherag, André, Vinkhuyzen, Anna A E, Westra, Harm-Jan, Winkler, Thomas W, Workalemahu, Tsegaselassie, Zhao, Jing Hua, Absher, Devin, Albrecht, Eva, Anderson, Denise, Baron, Jeffrey, Beekman, Marian, Demirkan, Ayse, Ehret, Georg B, Feenstra, Bjarke, Feitosa, Mary F, Fischer, Krista, Fraser, Ross M, Goel, Anuj, Gong, Jian, Justice, Anne E, Kanoni, Stavroula, Kleber, Marcus E, Kristiansson, Kati, Lim, Unhee, Lotay, Vaneet, Lui, Julian C, Mangino, Massimo, Leach, Irene Mateo, Medina-Gomez, Carolina, Nalls, Michael A, Nyholt, Dale R, Palmer, Cameron D, Pasko, Dorota, Pechlivanis, Sonali, Prokopenko, Inga, Ried, Janina S, Ripke, Stephan, Shungin, Dmitry, Stancáková, Alena, Strawbridge, Rona J, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van Setten, Jessica, Van Vliet-Ostaptchouk, Jana V, Wang, Zhaoming, Yengo, Loïc, Zhang, Weihua, Afzal, Uzma, Arnlöv, Johan, Arscott, Gillian M, Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J, Berne, Christian, Blüher, Matthias, Bolton, Jennifer L, Böttcher, Yvonne, Boyd, Heather A, Bruinenberg, Marcel, Buckley, Brendan M, Buyske, Steven, Caspersen, Ida H, Chines, Peter S, Clarke, Robert, Claudi-Boehm, Simone, Cooper, Matthew, Daw, E Warwick, De Jong, Pim A, Deelen, Joris, Delgado, Graciela, Denny, Josh C, Dhonukshe-Rutten, Rosalie, Dimitriou, Maria, Doney, Alex S F, Dörr, Marcus, Eklund, Niina, Eury, Elodie, Folkersen, Lasse, Garcia, Melissa E, Geller, Frank, Giedraitis, Vilmantas, Go, Alan S, Grallert, Harald, Grammer, Tanja B, Gräßler, Jürgen, Grönberg, Henrik, de Groot, Lisette C P G M, Groves, Christopher J, Haessler, Jeffrey, Hall, Per, Haller, Toomas, Hallmans, Goran, Hannemann, Anke, Hartman, Catharina A, Hassinen, Maija, Hayward, Caroline, Heard-Costa, Nancy L, Helmer, Quinta, Hemani, Gibran, Henders, Anjali K, Hillege, Hans L, Hlatky, Mark A, Hoffmann, Wolfgang, Hoffmann, Per, Holmen, Oddgeir, Houwing-Duistermaat, Jeanine J, Illig, Thomas, Isaacs, Aaron, James, Alan L, Jeff, Janina, Johansen, Berit, Johansson, Åsa, Jolley, Jennifer, Juliusdottir, Thorhildur, Junttila, Juhani, Kho, Abel N, Kinnunen, Leena, Klopp, Norman, Kocher, Thomas, Kratzer, Wolfgang, Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Lu, Yingchang, Lyssenko, Valeriya, Magnusson, Patrik K E, Mahajan, Anubha, Maillard, Marc, McArdle, Wendy L, McKenzie, Colin A, McLachlan, Stela, McLaren, Paul J, Menni, Cristina, Merger, Sigrun, Milani, Lili, Moayyeri, Alireza, Monda, Keri L, Morken, Mario A, Müller, Gabriele, Müller-Nurasyid, Martina, Musk, Arthur W, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Nöthen, Markus M, Oozageer, Laticia, Pilz, Stefan, Rayner, Nigel W, Renstrom, Frida, Robertson, Neil R, Rose, Lynda M, Roussel, Ronan, Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Schumacher, Fredrick R, Schunkert, Heribert, Scott, Robert A, Sehmi, Joban, Seufferlein, Thomas, Shi, Jianxin, Silventoinen, Karri, Smit, Johannes H, Smith, Albert Vernon, Smolonska, Joanna, Stanton, Alice V, Stirrups, Kathleen, Stott, David J, Stringham, Heather M, Sundström, Johan, Swertz, Morris A, Syvänen, Ann-Christine, Tayo, Bamidele O, Thorleifsson, Gudmar, Tyrer, Jonathan P, van Dijk, Suzanne, van Schoor, Natasja M, van der Velde, Nathalie, van Heemst, Diana, van Oort, Floor V A, Vermeulen, Sita H, Verweij, Niek, Vonk, Judith M, Waite, Lindsay L, Waldenberger, Melanie, Wennauer, Roman, Wilkens, Lynne R, Willenborg, Christina, Wilsgaard, Tom, Wojczynski, Mary K, Wong, Andrew, Wright, Alan F, Zhang, Qunyuan, Arveiler, Dominique, Bakker, Stephan J L, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boomsma, Dorret I, Bornstein, Stefan R, Bovet, Pascal, Brambilla, Paolo, Brown, Morris J, Campbell, Harry, Caulfield, Mark J, Chakravarti, Aravinda, Collins, Rory, Collins, Francis S, Crawford, Dana C, Cupples, L Adrienne, Danesh, John, de Faire, Ulf, den Ruijter, Hester M, Erbel, Raimund, Erdmann, Jeanette, Eriksson, Johan G, Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Ford, Ian, Forouhi, Nita G, Forrester, Terrence, Gansevoort, Ron T, Gejman, Pablo V, Gieger, Christian, Golay, Alain, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Haas, David W, Hall, Alistair S, Harris, Tamara B, Hattersley, Andrew T, Heath, Andrew C, Hengstenberg, Christian, Hicks, Andrew A, Hindorff, Lucia A, Hingorani, Aroon D, Hofman, Albert, Hovingh, G Kees, Humphries, Steve E, Hunt, Steven C, Hypponen, Elina, Jacobs, Kevin B, Jarvelin, Marjo-Riitta, Jousilahti, Pekka, Jula, Antti M, Kaprio, Jaakko, Kastelein, John J P, Kayser, Manfred, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M, Kiemeney, Lambertus A, Kooner, Jaspal S, Kooperberg, Charles, Koskinen, Seppo, Kovacs, Peter, Kraja, Aldi T, Kumari, Meena, Kuusisto, Johanna, Lakka, Timo A, Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lupoli, Sara, Madden, Pamela A F, Männistö, Satu, Manunta, Paolo, Marette, André, Matise, Tara C, McKnight, Barbara, Meitinger, Thomas, Moll, Frans L, Montgomery, Grant W, Morris, Andrew D, Morris, Andrew P, Murray, Jeffrey C, Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J, Ong, Ken K, Ouwehand, Willem H, Pasterkamp, Gerard, Peters, Annette, Pramstaller, Peter P, Price, Jackie F, Qi, Lu, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rice, Treva K, Ritchie, Marylyn, Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J, Saramies, Jouko, Sarzynski, Mark A, Schwarz, Peter E H, Sebert, Sylvain, Sever, Peter, Shuldiner, Alan R, Sinisalo, Juha, Steinthorsdottir, Valgerdur, Stolk, Ronald P, Tardif, Jean-Claude, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Virtamo, Jarmo, Vohl, Marie-Claude, Amouyel, Philippe, Asselbergs, Folkert W, Assimes, Themistocles L, Bochud, Murielle, Boehm, Bernhard O, Boerwinkle, Eric, Bottinger, Erwin P, Bouchard, Claude, Cauchi, Stéphane, Chambers, John C, Chanock, Stephen J, Cooper, Richard S, de Bakker, Paul I W, Dedoussis, George, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Groop, Leif C, Haiman, Christopher A, Hamsten, Anders, Hayes, M Geoffrey, Hui, Jennie, Hunter, David J, Hveem, Kristian, Jukema, J Wouter, Kaplan, Robert C, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, Martin, Nicholas G, März, Winfried, Melbye, Mads, Moebus, Susanne, Munroe, Patricia B, Njølstad, Inger, Oostra, Ben A, Palmer, Colin N A, Pedersen, Nancy L, Perola, Markus, Pérusse, Louis, Peters, Ulrike, Powell, Joseph E, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Reinmaa, Eva, Ridker, Paul M, Rivadeneira, Fernando, Rotter, Jerome I, Saaristo, Timo E, Saleheen, Danish, Schlessinger, David, Slagboom, P Eline, Snieder, Harold, Spector, Tim D, Strauch, Konstantin, Stumvoll, Michael, Tuomilehto, Jaakko, Uusitupa, Matti, van der Harst, Pim, Völzke, Henry, Walker, Mark, Wareham, Nicholas J, Watkins, Hugh, Wichmann, H-Erich, Wilson, James F, Zanen, Pieter, Deloukas, Panos, Heid, Iris M, Lindgren, Cecilia M, Mohlke, Karen L, Speliotes, Elizabeth K, Thorsteinsdottir, Unnur, Barroso, Inês, Fox, Caroline S, North, Kari E, Strachan, David P, Beckmann, Jacques S, Berndt, Sonja I, Boehnke, Michael, Borecki, Ingrid B, McCarthy, Mark I, Metspalu, Andres, Stefansson, Kari, Uitterlinden, André G, van Duijn, Cornelia M, Franke, Lude, Willer, Cristen J, Price, Alkes L, Lettre, Guillaume, Loos, Ruth J F, Weedon, Michael N, Ingelsson, Erik, O'Connell, Jeffrey R, Abecasis, Goncalo R, Chasman, Daniel I, Goddard, Michael E, Visscher, Peter M, Hirschhorn, Joel N, Frayling, Timothy M, Wood, Andrew R, Esko, Tonu, Yang, Jian, Vedantam, Sailaja, Pers, Tune H, Gustafsson, Stefan, Chu, Audrey Y, Estrada, Karol, Luan, Jian'an, Kutalik, Zoltán, Amin, Najaf, Buchkovich, Martin L, Croteau-Chonka, Damien C, Day, Felix R, Duan, Yanan, Fall, Tove, Fehrmann, Rudolf, Ferreira, Teresa, Jackson, Anne U, Karjalainen, Juha, Lo, Ken Sin, Locke, Adam E, Mägi, Reedik, Mihailov, Evelin, Porcu, Eleonora, Randall, Joshua C, Scherag, André, Vinkhuyzen, Anna A E, Westra, Harm-Jan, Winkler, Thomas W, Workalemahu, Tsegaselassie, Zhao, Jing Hua, Absher, Devin, Albrecht, Eva, Anderson, Denise, Baron, Jeffrey, Beekman, Marian, Demirkan, Ayse, Ehret, Georg B, Feenstra, Bjarke, Feitosa, Mary F, Fischer, Krista, Fraser, Ross M, Goel, Anuj, Gong, Jian, Justice, Anne E, Kanoni, Stavroula, Kleber, Marcus E, Kristiansson, Kati, Lim, Unhee, Lotay, Vaneet, Lui, Julian C, Mangino, Massimo, Leach, Irene Mateo, Medina-Gomez, Carolina, Nalls, Michael A, Nyholt, Dale R, Palmer, Cameron D, Pasko, Dorota, Pechlivanis, Sonali, Prokopenko, Inga, Ried, Janina S, Ripke, Stephan, Shungin, Dmitry, Stancáková, Alena, Strawbridge, Rona J, Sung, Yun Ju, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W, van Setten, Jessica, Van Vliet-Ostaptchouk, Jana V, Wang, Zhaoming, Yengo, Loïc, Zhang, Weihua, Afzal, Uzma, Arnlöv, Johan, Arscott, Gillian M, Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J, Berne, Christian, Blüher, Matthias, Bolton, Jennifer L, Böttcher, Yvonne, Boyd, Heather A, Bruinenberg, Marcel, Buckley, Brendan M, Buyske, Steven, Caspersen, Ida H, Chines, Peter S, Clarke, Robert, Claudi-Boehm, Simone, Cooper, Matthew, Daw, E Warwick, De Jong, Pim A, Deelen, Joris, Delgado, Graciela, Denny, Josh C, Dhonukshe-Rutten, Rosalie, Dimitriou, Maria, Doney, Alex S F, Dörr, Marcus, Eklund, Niina, Eury, Elodie, Folkersen, Lasse, Garcia, Melissa E, Geller, Frank, Giedraitis, Vilmantas, Go, Alan S, Grallert, Harald, Grammer, Tanja B, Gräßler, Jürgen, Grönberg, Henrik, de Groot, Lisette C P G M, Groves, Christopher J, Haessler, Jeffrey, Hall, Per, Haller, Toomas, Hallmans, Goran, Hannemann, Anke, Hartman, Catharina A, Hassinen, Maija, Hayward, Caroline, Heard-Costa, Nancy L, Helmer, Quinta, Hemani, Gibran, Henders, Anjali K, Hillege, Hans L, Hlatky, Mark A, Hoffmann, Wolfgang, Hoffmann, Per, Holmen, Oddgeir, Houwing-Duistermaat, Jeanine J, Illig, Thomas, Isaacs, Aaron, James, Alan L, Jeff, Janina, Johansen, Berit, Johansson, Åsa, Jolley, Jennifer, Juliusdottir, Thorhildur, Junttila, Juhani, Kho, Abel N, Kinnunen, Leena, Klopp, Norman, Kocher, Thomas, Kratzer, Wolfgang, Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Lu, Yingchang, Lyssenko, Valeriya, Magnusson, Patrik K E, Mahajan, Anubha, Maillard, Marc, McArdle, Wendy L, McKenzie, Colin A, McLachlan, Stela, McLaren, Paul J, Menni, Cristina, Merger, Sigrun, Milani, Lili, Moayyeri, Alireza, Monda, Keri L, Morken, Mario A, Müller, Gabriele, Müller-Nurasyid, Martina, Musk, Arthur W, Narisu, Narisu, Nauck, Matthias, Nolte, Ilja M, Nöthen, Markus M, Oozageer, Laticia, Pilz, Stefan, Rayner, Nigel W, Renstrom, Frida, Robertson, Neil R, Rose, Lynda M, Roussel, Ronan, Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Schumacher, Fredrick R, Schunkert, Heribert, Scott, Robert A, Sehmi, Joban, Seufferlein, Thomas, Shi, Jianxin, Silventoinen, Karri, Smit, Johannes H, Smith, Albert Vernon, Smolonska, Joanna, Stanton, Alice V, Stirrups, Kathleen, Stott, David J, Stringham, Heather M, Sundström, Johan, Swertz, Morris A, Syvänen, Ann-Christine, Tayo, Bamidele O, Thorleifsson, Gudmar, Tyrer, Jonathan P, van Dijk, Suzanne, van Schoor, Natasja M, van der Velde, Nathalie, van Heemst, Diana, van Oort, Floor V A, Vermeulen, Sita H, Verweij, Niek, Vonk, Judith M, Waite, Lindsay L, Waldenberger, Melanie, Wennauer, Roman, Wilkens, Lynne R, Willenborg, Christina, Wilsgaard, Tom, Wojczynski, Mary K, Wong, Andrew, Wright, Alan F, Zhang, Qunyuan, Arveiler, Dominique, Bakker, Stephan J L, Beilby, John, Bergman, Richard N, Bergmann, Sven, Biffar, Reiner, Blangero, John, Boomsma, Dorret I, Bornstein, Stefan R, Bovet, Pascal, Brambilla, Paolo, Brown, Morris J, Campbell, Harry, Caulfield, Mark J, Chakravarti, Aravinda, Collins, Rory, Collins, Francis S, Crawford, Dana C, Cupples, L Adrienne, Danesh, John, de Faire, Ulf, den Ruijter, Hester M, Erbel, Raimund, Erdmann, Jeanette, Eriksson, Johan G, Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Ford, Ian, Forouhi, Nita G, Forrester, Terrence, Gansevoort, Ron T, Gejman, Pablo V, Gieger, Christian, Golay, Alain, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Haas, David W, Hall, Alistair S, Harris, Tamara B, Hattersley, Andrew T, Heath, Andrew C, Hengstenberg, Christian, Hicks, Andrew A, Hindorff, Lucia A, Hingorani, Aroon D, Hofman, Albert, Hovingh, G Kees, Humphries, Steve E, Hunt, Steven C, Hypponen, Elina, Jacobs, Kevin B, Jarvelin, Marjo-Riitta, Jousilahti, Pekka, Jula, Antti M, Kaprio, Jaakko, Kastelein, John J P, Kayser, Manfred, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M, Kiemeney, Lambertus A, Kooner, Jaspal S, Kooperberg, Charles, Koskinen, Seppo, Kovacs, Peter, Kraja, Aldi T, Kumari, Meena, Kuusisto, Johanna, Lakka, Timo A, Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lupoli, Sara, Madden, Pamela A F, Männistö, Satu, Manunta, Paolo, Marette, André, Matise, Tara C, McKnight, Barbara, Meitinger, Thomas, Moll, Frans L, Montgomery, Grant W, Morris, Andrew D, Morris, Andrew P, Murray, Jeffrey C, Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J, Ong, Ken K, Ouwehand, Willem H, Pasterkamp, Gerard, Peters, Annette, Pramstaller, Peter P, Price, Jackie F, Qi, Lu, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rice, Treva K, Ritchie, Marylyn, Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J, Saramies, Jouko, Sarzynski, Mark A, Schwarz, Peter E H, Sebert, Sylvain, Sever, Peter, Shuldiner, Alan R, Sinisalo, Juha, Steinthorsdottir, Valgerdur, Stolk, Ronald P, Tardif, Jean-Claude, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Virtamo, Jarmo, Vohl, Marie-Claude, Amouyel, Philippe, Asselbergs, Folkert W, Assimes, Themistocles L, Bochud, Murielle, Boehm, Bernhard O, Boerwinkle, Eric, Bottinger, Erwin P, Bouchard, Claude, Cauchi, Stéphane, Chambers, John C, Chanock, Stephen J, Cooper, Richard S, de Bakker, Paul I W, Dedoussis, George, Ferrucci, Luigi, Franks, Paul W, Froguel, Philippe, Groop, Leif C, Haiman, Christopher A, Hamsten, Anders, Hayes, M Geoffrey, Hui, Jennie, Hunter, David J, Hveem, Kristian, Jukema, J Wouter, Kaplan, Robert C, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, Martin, Nicholas G, März, Winfried, Melbye, Mads, Moebus, Susanne, Munroe, Patricia B, Njølstad, Inger, Oostra, Ben A, Palmer, Colin N A, Pedersen, Nancy L, Perola, Markus, Pérusse, Louis, Peters, Ulrike, Powell, Joseph E, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Reinmaa, Eva, Ridker, Paul M, Rivadeneira, Fernando, Rotter, Jerome I, Saaristo, Timo E, Saleheen, Danish, Schlessinger, David, Slagboom, P Eline, Snieder, Harold, Spector, Tim D, Strauch, Konstantin, Stumvoll, Michael, Tuomilehto, Jaakko, Uusitupa, Matti, van der Harst, Pim, Völzke, Henry, Walker, Mark, Wareham, Nicholas J, Watkins, Hugh, Wichmann, H-Erich, Wilson, James F, Zanen, Pieter, Deloukas, Panos, Heid, Iris M, Lindgren, Cecilia M, Mohlke, Karen L, Speliotes, Elizabeth K, Thorsteinsdottir, Unnur, Barroso, Inês, Fox, Caroline S, North, Kari E, Strachan, David P, Beckmann, Jacques S, Berndt, Sonja I, Boehnke, Michael, Borecki, Ingrid B, McCarthy, Mark I, Metspalu, Andres, Stefansson, Kari, Uitterlinden, André G, van Duijn, Cornelia M, Franke, Lude, Willer, Cristen J, Price, Alkes L, Lettre, Guillaume, Loos, Ruth J F, Weedon, Michael N, Ingelsson, Erik, O'Connell, Jeffrey R, Abecasis, Goncalo R, Chasman, Daniel I, Goddard, Michael E, Visscher, Peter M, Hirschhorn, Joel N, and Frayling, Timothy M
Abstract: Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
Published: 2014
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30. Quantitative DNA Real-Time PCR Compared To mRNA and Cytogenetic Assays To Monitor Minimal Residual Disease In Chronic Myeloid Leukemia

Author: Pagani, Ilaria Stefania, primary, Spinelli, Orietta, additional, Pirrone, Cristina, additional, Pigni, Diana, additional, Lupoli, Sara, additional, D'Avila, Francesca, additional, Barcella, Matteo, additional, Boroni, Chiara, additional, Intermesoli, Tamara, additional, Giussani, Ursula, additional, Bolda, Federica, additional, Pasquali, Francesco, additional, Lo Curto, Francesco, additional, Lanfranchi, Arnalda, additional, Porta, Fulvio, additional, Barlassina, Cristina, additional, Rambaldi, Alessandro, additional, and Porta, Giovanni, additional
Published: 2013
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31. TGF beta receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients

Author: Koumakis, Eugenie, Wipff, Julien, Dieude, Philippe, Ruiz, Barbara, Bouaziz, Matthieu, Revillod, Lucile, Guedj, Mickael, Distler, Joerg H. W., Matucci-Cerinic, Marco, Humbert, Marc, Riemekasten, Gabriella, Airo, Paolo, Melchers, Inga, Hachulla, Eric, Cusi, Daniele, Wichmann, H-Erich, Hunzelmann, Nicolas, Tiev, Kiet, Caramaschi, Paola, Diot, Elisabeth, Kowal-Bielecka, Otylia, Cuomo, Giovanna, Walker, Ulrich, Czirjak, Laszlo, Damjanov, Nemanja, Lupoli, Sara, Conti, Costanza, Mueller-Nurasyid, Martina, Mueller-Ladner, Ulf, Riccieri, Valeria, Cracowski, Jean-Luc, Cozzi, Franco, Bournia, Vasiliki Kalliopi, Vlachoyiannopoulos, P., Chiocchia, Gilles, Boileau, Catherine, Allanore, Yannick, Koumakis, Eugenie, Wipff, Julien, Dieude, Philippe, Ruiz, Barbara, Bouaziz, Matthieu, Revillod, Lucile, Guedj, Mickael, Distler, Joerg H. W., Matucci-Cerinic, Marco, Humbert, Marc, Riemekasten, Gabriella, Airo, Paolo, Melchers, Inga, Hachulla, Eric, Cusi, Daniele, Wichmann, H-Erich, Hunzelmann, Nicolas, Tiev, Kiet, Caramaschi, Paola, Diot, Elisabeth, Kowal-Bielecka, Otylia, Cuomo, Giovanna, Walker, Ulrich, Czirjak, Laszlo, Damjanov, Nemanja, Lupoli, Sara, Conti, Costanza, Mueller-Nurasyid, Martina, Mueller-Ladner, Ulf, Riccieri, Valeria, Cracowski, Jean-Luc, Cozzi, Franco, Bournia, Vasiliki Kalliopi, Vlachoyiannopoulos, P., Chiocchia, Gilles, Boileau, Catherine, and Allanore, Yannick
Abstract: Introduction Systemic sclerosis (SSc)-related pulmonary arterial hypertension (PAH) has emerged as a major mortality prognostic factor. Mutations of transforming growth factor beta (TGF beta) receptor genes strongly contribute to idiopathic and familial PAH. Objective To explore the genetic bases of SSc-PAH, we combined direct sequencing and genotyping of candidate genes encoding TGF beta receptor family members. Materials and methods TGF beta receptor genes, BMPR2, ALK1, TGFR2 and ENG, were sequenced in 10 SSc-PAH patients, nine SSc and seven controls. In addition, 22 single-nucleotide polymorphisms (SNP) of these four candidate genes were tested for association in a first set of 824 French Caucasian SSc patients (including 54 SSc-PAH) and 939 controls. The replication set consisted of 1516 European SSc (including 219 SSc-PAH) and 3129 controls from the European League Against Rheumatism Scleroderma Trials and Research group network. Results No mutation was identified by direct sequencing. However, two repertoried SNP, ENG rs35400405 and ALK1 rs2277382, were found in SSc-PAH patients only. The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SSc-PAH (p=0.0066, OR 2.13, 95% CI 1.24 to 3.65). Nevertheless, this was not replicated with the following result in combined analysis: p=0.123, OR 0.79, 95% CI 0.59 to 1.07. Conclusions This study demonstrates the lack of association between these TGF beta receptor gene polymorphisms and SSc-PAH using both sequencing and genotyping methods.
Published: 2012

32. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

Author: D'Avila, Francesca, Meregalli, Mirella, Lupoli, Sara, Barcella, Matteo, Orro, Alessandro, Santis, Francesca, Sitzia, Clementina, Farini, Andrea, D'Ursi, Pasqualina, Erratico, Silvia, Cristofani, Riccardo, Milanesi, Luciano, Braga, Daniele, Cusi, Daniele, Poletti, Angelo, Barlassina, Cristina, and Torrente, Yvan
Abstract: Myofibrillar myopathies (MFMs) are genetically heterogeneous dystrophies characterized by the disintegration of Z-disks and myofibrils and are associated with mutations in genes encoding Z-disk or Z-disk-related proteins. The c.626 C > T (p.P209L) mutation in the BAG3 gene has been described as causative of a subtype of MFM. We report a sporadic case of a 26-year-old Italian woman, affected by MFM with axonal neuropathy, cardiomyopathy, rigid spine, who carries the c.626 C > T mutation in the BAG3 gene. The patient and her non-consanguineous healthy parents and brother were studied with whole exome sequencing (WES) to further investigate the genetic basis of this complex phenotype. In the patient, we found that the BAG3 mutation is associated with variants in the NRAP and FHL1 genes that encode muscle-specific, LIM domain containing proteins. Quantitative real time PCR, immunohistochemistry and Western blot analysis of the patient's muscular biopsy showed the absence of NRAP expression and FHL1 accumulation in aggregates in the affected skeletal muscle tissue. Molecular dynamic analysis of the mutated FHL1 domain showed a modification in its surface charge, which could affect its capability to bind its target proteins. To our knowledge this is the first study reporting, in a BAG3 MFM, the simultaneous presence of genetic variants in the BAG3 and FHL1 genes (previously described as independently associated with MFMs) and linking the NRAP gene to MFM for the first time. [ABSTRACT FROM AUTHOR]
Published: 2016
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33. Replication Study to Confirm the Role of CYP2D6 Polymorphism rs1080985 on Donepezil Efficacy in Alzheimer's Disease Patients

Author: Albani, Diego, primary, Boneschi, Filippo Martinelli, additional, Biella, Gloria, additional, Giacalone, Giacomo, additional, Lupoli, Sara, additional, Clerici, Francesca, additional, Benussi, Luisa, additional, Ghidoni, Roberta, additional, Galimberti, Daniela, additional, Squitti, Rosanna, additional, Mariani, Stefania, additional, Confaloni, Annamaria, additional, Bruno, Giuseppe, additional, Mariani, Claudio, additional, Scarpini, Elio, additional, Binetti, Giuliano, additional, Magnani, Giuseppe, additional, Franceschi, Massimo, additional, and Forloni, Gianluigi, additional
Published: 2012
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34. DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population

Author: Alkelai, Anna, primary, Lupoli, Sara, additional, Greenbaum, Lior, additional, Kohn, Yoav, additional, Kanyas-Sarner, Kyra, additional, Ben-Asher, Edna, additional, Lancet, Doron, additional, Macciardi, Fabio, additional, and Lerer, Bernard, additional
Published: 2012
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35. Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase

Author: Salvi, Erika, primary, Kutalik, Zoltán, additional, Glorioso, Nicola, additional, Benaglio, Paola, additional, Frau, Francesca, additional, Kuznetsova, Tatiana, additional, Arima, Hisatomi, additional, Hoggart, Clive, additional, Tichet, Jean, additional, Nikitin, Yury P., additional, Conti, Costanza, additional, Seidlerova, Jitka, additional, Tikhonoff, Valérie, additional, Stolarz-Skrzypek, Katarzyna, additional, Johnson, Toby, additional, Devos, Nabila, additional, Zagato, Laura, additional, Guarrera, Simonetta, additional, Zaninello, Roberta, additional, Calabria, Andrea, additional, Stancanelli, Benedetta, additional, Troffa, Chiara, additional, Thijs, Lutgarde, additional, Rizzi, Federica, additional, Simonova, Galina, additional, Lupoli, Sara, additional, Argiolas, Giuseppe, additional, Braga, Daniele, additional, D'Alessio, Maria C., additional, Ortu, Maria F., additional, Ricceri, Fulvio, additional, Mercurio, Maurizio, additional, Descombes, Patrick, additional, Marconi, Maurizio, additional, Chalmers, John, additional, Harrap, Stephen, additional, Filipovsky, Jan, additional, Bochud, Murielle, additional, Iacoviello, Licia, additional, Ellis, Justine, additional, Stanton, Alice V., additional, Laan, Maris, additional, Padmanabhan, Sandosh, additional, Dominiczak, Anna F., additional, Samani, Nilesh J., additional, Melander, Olle, additional, Jeunemaitre, Xavier, additional, Manunta, Paolo, additional, Shabo, Amnon, additional, Vineis, Paolo, additional, Cappuccio, Francesco P., additional, Caulfield, Mark J., additional, Matullo, Giuseppe, additional, Rivolta, Carlo, additional, Munroe, Patricia B., additional, Barlassina, Cristina, additional, Staessen, Jan A., additional, Beckmann, Jacques S., additional, and Cusi, Daniele, additional
Published: 2012
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36. Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family‐based, Arab‐Israeli sample

Author: Alkelai, Anna, primary, Lupoli, Sara, additional, Greenbaum, Lior, additional, Giegling, Ina, additional, Kohn, Yoav, additional, Sarner‐Kanyas, Kyra, additional, Ben‐Asher, Edna, additional, Lancet, Doron, additional, Rujescu, Dan, additional, Macciardi, Fabio, additional, and Lerer, Bernard, additional
Published: 2011
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37. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

Author: Liu, Xiangdong, primary, Invernizzi, Pietro, additional, Lu, Yue, additional, Kosoy, Roman, additional, Lu, Yan, additional, Bianchi, Ilaria, additional, Podda, Mauro, additional, Xu, Chun, additional, Xie, Gang, additional, Macciardi, Fabio, additional, Selmi, Carlo, additional, Lupoli, Sara, additional, Shigeta, Russell, additional, Ransom, Michael, additional, Lleo, Ana, additional, Lee, Annette T, additional, Mason, Andrew L, additional, Myers, Robert P, additional, Peltekian, Kevork M, additional, Ghent, Cameron N, additional, Bernuzzi, Francesca, additional, Zuin, Massimo, additional, Rosina, Floriano, additional, Borghesio, Elisabetta, additional, Floreani, Annarosa, additional, Lazzari, Roberta, additional, Niro, Grazia, additional, Andriulli, Angelo, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Almasio, Piero L, additional, Andreone, Pietro, additional, Margotti, Marzia, additional, Brunetto, Maurizia, additional, Coco, Barbara, additional, Alvaro, Domenico, additional, Bragazzi, Maria C, additional, Marra, Fabio, additional, Pisano, Alessandro, additional, Rigamonti, Cristina, additional, Colombo, Massimo, additional, Marzioni, Marco, additional, Benedetti, Antonio, additional, Fabris, Luca, additional, Strazzabosco, Mario, additional, Portincasa, Piero, additional, Palmieri, Vincenzo O, additional, Tiribelli, Claudio, additional, Croce, Lory, additional, Bruno, Savino, additional, Rossi, Sonia, additional, Vinci, Maria, additional, Prisco, Cleofe, additional, Mattalia, Alberto, additional, Toniutto, Pierluigi, additional, Picciotto, Antonio, additional, Galli, Andrea, additional, Ferrari, Carlo, additional, Colombo, Silvia, additional, Casella, Giovanni, additional, Morini, Lorenzo, additional, Caporaso, Nicola, additional, Colli, Agostino, additional, Spinzi, Giancarlo, additional, Montanari, Renzo, additional, Gregersen, Peter K, additional, Heathcote, E Jenny, additional, Hirschfield, Gideon M, additional, Siminovitch, Katherine A, additional, Amos, Christopher I, additional, Gershwin, M Eric, additional, and Seldin, Michael F, additional
Published: 2010
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38. Fine mapping ofAHI1as a schizophrenia susceptibility gene: from association to evolutionary evidence

Author: Torri, Federica, primary, Akelai, Anna, additional, Lupoli, Sara, additional, Sironi, Manuela, additional, Amann‐Zalcenstein, Daniela, additional, Fumagalli, Matteo, additional, Fiume, Chiara Dal, additional, Ben‐Asher, Edna, additional, Kanyas, Kyra, additional, Cagliani, Rachele, additional, Cozzi, Paolo, additional, Trombetti, Gabriele, additional, Lievers, Luisa Strik, additional, Salvi, Erika, additional, Orro, Alessandro, additional, Beckmann, Jacques S., additional, Lancet, Doron, additional, Kohn, Yoav, additional, Milanesi, Luciano, additional, Ebstein, Richard B., additional, Lerer, Bernard, additional, and Macciardi, Fabio, additional
Published: 2010
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39. The burden of multiple sclerosis variants in continental Italians and Sardinians.

Author: Barizzone, Nadia, Zara, Ilenia, Sorosina, Melissa, Lupoli, Sara, Porcu, Eleonora, Pitzalis, Maristella, Zoledziewska, Magdalena, Esposito, Federica, Leone, Maurizio, Mulas, Antonella, Cocco, Eleonora, Ferrigno, Paola, Guerini, Franca R., Brambilla, Paola, Farina, Gabriele, Murru, Raffaele, Deidda, Francesca, Sanna, Sonia, Loi, Alessia, and Barlassina, Cristina
Subjects: MULTIPLE sclerosis, GENETICS of multiple sclerosis, SARDINIANS, ITALIANS, DISEASE susceptibility, HLA histocompatibility antigens, DISEASES, PATIENTS
Abstract: Background: Recent studies identified > 100 non-HLA (human leukocyte antigen) multiple sclerosis (MS) susceptibility variants in Northern European populations, but their role in Southern Europeans is largely unexplored. Objective: We aimed to investigate the cumulative impact of those variants in two Mediterranean populations: Continental Italians and Sardinians. Methods: We calculated four weighted Genetic Risk Scores (wGRS), using up to 102 non-HLA MS risk variants and 5 HLA MS susceptibility markers in 1691 patients and 2194 controls from continental Italy; and 2861 patients and 3034 controls from Sardinia. We then assessed the differences between populations using Nagelkerke’s R2 and the area under the Receiver Operating Characteristic (ROC) curves. Results: As expected, the genetic burden (mean wGRS value) was significantly higher in MS patients than in controls, in both populations. Of note, the burden was significantly higher in Sardinians. Conversely, the proportion of variability explained and the predictive power were significantly higher in continental Italians. Notably, within the Sardinian patients, we also observed a significantly higher burden of non-HLA variants in individuals who do not carry HLA risk alleles. Conclusions: The observed differences in MS genetic burden between the two Mediterranean populations highlight the need for more genetic studies in South Europeans, to further expand the knowledge of MS genetics. [ABSTRACT FROM AUTHOR]
Published: 2015
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40. Genetic burden of common variants in progressive and bout-onset multiple sclerosis.

Author: Sorosina, Melissa, Brambilla, Paola, Clarelli, Ferdinando, Barizzone, Nadia, Lupoli, Sara, Guaschino, Clara, Osiceanu, Ana Maria, Moiola, Lucia, Ghezzi, Angelo, Coniglio, Gabriella, Patti, Francesco, Mancardi, Gianluigi, Manunta, Paolo, Glorioso, Nicola, Guerini, Franca R, Bergamaschi, Roberto, Perla, Franco, Martinelli, Vittorio, Cusi, Daniele, and Leone, Maurizio
Subjects: SINGLE nucleotide polymorphisms, MULTIPLE sclerosis, MYELIN sheath diseases, PROPORTION, VIRUS diseases
Abstract: The article focuses on a study that estimate and compare the proportion of liability explained by common single nucleotide polymorphisms (SNPs) and the genetic burden of multiple sclerosis (MS)-associated SNPs in progressive onset (PrMS) and bout-onset (BOMS) cases. Study calculated a weighted genetic risk score (wGRS) based on the known MS-associated loci and found that common SNPs explain a greater proportion of phenotypic variance in BOMS.
Published: 2014
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41. Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence.

Author: Torri, Federica, Akelai, Anna, Lupoli, Sara, Sironi, Manuela, Amann-Zalcenstein, Daniela, Fumagalli, Matteo, Dal Fiume, Chiara, Ben-Asher, Edna, Kanyas, Kyra, Cagliani, Rachele, Cozzi, Paolo, Trombetti, Gabriele, Lievers, Luisa Strik, Salvi, Erika, Orro, Alessandro, Beckmann, Jacques S., Lancet, Doron, Kohn, Yoav, Milanesi, Luciano, and Ebstein, Richard B.
Subjects: SCHIZOPHRENIA, GENES, PSYCHIATRY, EPIDEMIOLOGY, META-analysis
Abstract: In previous studies, we identified a locus for schizophrenia on 6q23.3 and proposed the Abelson helper integration site 1 (AHI1) as the candidate gene. AHI1 is expressed in the brain and plays a key role in neurodevelopment, is involved in Joubert syndrome, and has been recently associated with autism. The neurodevelopmental role of AHI1 fits with etiological hypotheses of schizophrenia. To definitively confirm our hypothesis, we searched for associations using a dense map of the region. Our strongest findings lay within the AHI1 gene: single-nucleotide polymorphisms rs11154801 and rs7759971 showed significant associations (P=6.23E-06; P=0.84E-06) and haplotypes gave P values in the 10E-8 to 10E-10 range. The second highest significant region maps close to AHI1 and includes the intergenic region between BC040979 and PDE7B (rs2038549 at P=9.70E-06 and rs1475069 at P=6.97E-06), and PDE7B and MAP7. Using a sample of Palestinian Arab families to confirm these findings, we found isolated signals. While these results did not retain their significance after correction for multiple testing, the joint analysis across the 2 samples supports the role of AHI1, despite the presence of heterogeneity. Given the hypothesis of positive selection of schizophrenia genes, we resequenced a 11 kb region within AHI1 in ethnically defined populations and found evidence for a selective sweep. Network analysis indicates 2 haplotype clades, with schizophrenia-susceptibility haplotypes clustering within the major clade. In conclusion, our data support the role of AHI1 as a susceptibility gene for schizophrenia and confirm it has been subjected to positive selection, also shedding light on new possible candidate genes, MAP7 and PDE7B. [ABSTRACT FROM AUTHOR]
Published: 2010
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42. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

Author: Xiangdong Liu, Invernizzi, Pietro, Yue Lu, Kosoy, Roman, Yan Lu, Bianchi, Ilaria, Podda, Mauro, Chun Xu, Gang Xie, Macciardi, Fabio, Selmi, Carlo, Lupoli, Sara, Shigeta, Russell, Ransom, Michael, Lleo, Ana, Lee, Annette T., Mason, Andrew L., Myers, Robert P., Peltekian, Kevork M., and Ghent, Cameron N.
Subjects: BILIOUS diseases & biliousness, META-analysis, MAJOR histocompatibility complex, GENE frequency, ITALIANS, HEALTH
Abstract: A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 × 10−11, odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 × 10−10, OR = 1.63) and 17q12-21 (P = 1.7 × 10−10, OR = 1.38). [ABSTRACT FROM AUTHOR]
Published: 2010
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43. Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

Author: Salvi, Erika, Kutalik, Zoltán, Glorioso, Nicola, Benaglio, Paola, Frau, Francesca, Kuznetsova, Tatiana, Arima, Hisatomi, Hoggart, Clive, Tichet, Jean, Nikitin, Yury P., Conti, Costanza, Seidlerova, Jitka, Tikhonoff, Valérie, Stolarz-Skrzypek, Katarzyna, Johnson, Toby, Devos, Nabila, Zagato, Laura, Guarrera, Simonetta, Zaninello, Roberta, Calabria, Andrea, Stancanelli, Benedetta, Troffa, Chiara, Thijs, Lutgarde, Rizzi, Federica, Simonova, Galina, Lupoli, Sara, Argiolas, Giuseppe, Braga, Daniele, D'Alessio, Maria C., Ortu, Maria F., Ricceri, Fulvio, Mercurio, Maurizio, Descombes, Patrick, Marconi, Maurizio, Chalmers, John, Harrap, Stephen, Filipovsky, Jan, Bochud, Murielle, Iacoviello, Licia, Ellis, Justine, Stanton, Alice V., Laan, Maris, Padmanabhan, Sandosh, Dominiczak, Anna F., Samani, Nilesh J., Melander, Olle, Jeunemaitre, Xavier, Manunta, Paolo, Shabo, Amnon, Vineis, Paolo, Cappuccio, Francesco P., Caulfield, Mark J., Matullo, Giuseppe, Rivolta, Carlo, Munroe, Patricia B., Barlassina, Cristina, Staessen, Jan A., Beckmann, Jacques S., and Cusi, Daniele
Subjects: 3. Good health

44. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Ong, Ken K., Smith, Blair H., McKnight, Barbara, Pe'russe, Louis, Grabe, Hans-Jörgen, Marques-Vidal, Pedro, Kooner, Jaspal S., Wareham, Nicholas J., Morris, Andrew P., Grammer, Tanja B., Chittani, Martina, Hassinen, Maija, Trompet, Stella, Juonala, Markus, Kooperberg, Charles, Peters, Annette, Wu, Joseph, Kuusisto, Johanna, Zillikens, M. Carola, Bruinenberg, Marcel, Eriksson, Anna L., Manichaikul, Ani, Fox, Caroline S., Snieder, Harold, Barata, Llilda, Vestergaard, Henrik, Polasek, Ozren, Borecki, Ingrid B., Martin, Nicholas G., Ahluwalia, Tarunveer S., Sattar, Naveed, Mellström, Dan, Franks, Paul W., Hirschhorn, Joel N., Stringham, Heather M., Kivimaki, Mika, Jarvelin, Marjo-Riitta, Cucca, Francesco, Chu, Audrey Y., Hocking, Lynne J., Holmen, Oddgeir L., Corre, Tanguy, Männikkö, Reija, Jukema, J. Wouter, Tuomilehto, Jaakko, Pasterkamp, Gerard, Wolffenbuttel, Bruce H.R., Hernandez, Dena, James, Alan L., Ford, Ian, Heid, Iris M., Barroso, Inês, Rawal, Rajesh, Amin, Najaf, Hartman, Catharina A., Tayo, Bamidele O., Gertow, Karl, Direk, Nese, Lorentzon, Mattias, Esko, Toñu, Eriksson, Joel, Afaq, Saima, Van Duijn, Cornelia M., Waldenberger, Melanie, Balkau, Beverley, Gong, Jian, Pervjakova, Natalia, Young, Kristin, Baldassarre, Damiano, Yengo, Loic, Justice, Anne E., Luan, Jian'an, Teumer, Alexander, Gigante, Bruna, Horikoshi, Momoko, Launer, Lenore J., Grallert, Harald, Ngwa, Julius S., Wu, Ying, Ludolph-Donislawski, Anja, Rao, Thuillier, Dorothee, Renström, Frida, Hindorff, Lucia, Chines, Peter S., Lobbens, Stephane, Kanoni, Stavroula, Müller-Nurasyid, Martina, Jansson, John-Olov, Navarro, Pau, De Geus, Eco J.C., Rose, Lynda M., Savonen, Kai, Lim, Unhee, Hunter, David J., Sarti, Cinzia, Bielak, Lawrence F., Rauramaa, Rainer, Whitfield, John B., Hastie, Nicholas D., Bandinelli, Stefania, Swertz, Morris A., Cooper, Richard S., Swift, Amy J., Kähönen, Mika, Deng, Xuan, Gorski, Mathias, De Faire, Ulf, Karlsson, Magnus, Siemelink, Marten A., Narisu, Narisu, Johnson, Andrew D., Lubke, Gitta, Wong, Andrew, Perez, Jeremiah, Verweij, Niek, Grarup, Niels, Scholtens, Salome, Kvaloy, Kirsti, McCarthy, Mark I., Boerwinkle, Eric, Laakso, Markku, Bakker, Stephan J.L., Tyrrell, Jessica, Chasman, Daniel I., De Craen, Anton J.M., Chambers, John C., Krämer, Bernhard K., Huang, Tao, Eicher, John D., Hutri-Kähönen, Nina, Loh, Marie, Bergmann, Sven, Weir, David R., Nauck, Matthias, März, Winfried, Lindgren, Cecilia M., Smith, Jennifer A., Middelberg, Rita P.S., Kutalik, Zolta'n, Qi, Qibin, Spector, Tim D., Hveem, Kristian, Psaty, Bruce M., Bergman, Richard N., Hansen, Torben, Homuth, Georg, Strawbridge, Rona J., Strauch, Konstantin, Haitjema, Saskia, Zhang, Weihua, Jackson, Anne U., Buckley, Brendan M., De Borst, Gert J., Staessen, Jan A., Vollenweider, Peter, Liu, Ching-Ti, Schurmann, Claudia, Cupples, L. Adrienne, Marchini, Jonathan, Ohlsson, Claes, Wright, Alan F., Wild, Sarah, Hollensted, Mette, North, Kari E., Bragg, Jennifer, Hung, Joseph, Gordon-Larsen, Penny, Koistinen, Heikki A., Olden, Matthias, Fischer, Krista, Hottenga, Jouke Jan, Thorand, Barbara, Harder, Marie Neergaard, Silbernagel, Günther, Huffman, Jennifer E., Hallmans, Göran, Nolte, Ilja M., Le Marchand, Loic, Zimmermann, Martina E., Coggeshall, Scott, Boomsma, Dorret I., Strachan, David P., Qi, Lu, Jorgensen, Marit E., Cadby, Gemma, Vandenput, Liesbeth, Tremoli, Elena, Porteous, David J., Abecasis, Gonçalo R., McKenzie, Colin A., Dedoussis, George, Kuh, Diana, Hamsten, Anders, Bonnycastle, Lori L., Linneberg, Allan, Van Der Laan, Sander W., Rasmussen-Torvik, Laura J., Lind, Lars, Faul, Jessica D., Winkler, Thomas W., Jhun, Min A., Westendorp, Zhao, Jing Hua, Sung, Yun Ju, Kolovou, Genovefa, Rudan, Igor, Langenberg, Claudia, Kardia, Sharon L.R., Madden, Pamela A.F., Curran, Joanne E., Afzal, Uzma, Mahajan, Anubha, Lyytikäinen, Leo-Pekka, Adair, Linda S., Alfred, Tamuno, Van Der Harst, Pim, Mohlke, Karen L., Völzke, Henry, Cusi, Daniele, Peyser, Patricia A., Frayling, Timothy M., Komulainen, Pirjo, Ferrucci, Luigi, Stanča'kova, Alena, Eiriksdottir, Gudny, Metspalu, Andres, Scott, Robert A., Ida Chen, Yii-Der, Fisher, Virginia A., Lupoli, Sara, Ahmad, Shafqat, Bartz, Traci M., Campbell, Harry, Peters, Ulrike, Van Vliet-Ostaptchouk, Jana V., Blangero, John, Musk, Tanaka, Toshiko, Rankinen, Tuomo, Kilpeläinen, Tuomas O., Sanna, Serena, Boehnke, Michael, Harris, Tamara B., Kleber, Marcus E., Ridker, Paul M., Kinnunen, Leena, Hayward, Caroline, Menni, Cristina, Braga, Daniele, Tiemeier, Henning, Böger, Carsten A., Vitart, Veronique, Rice, Treva, Zhao, Wei, Taylor, Kent D., Deloukas, Panagiotis, Vink, Jacqueline M., Graff, Misa, Wilson, James F., Sorensen, Thorkild I.A., Vedantam, Sailaja L., Biffar, Reiner, Kolcic, Ivana, Willemsen, Gonneke, Bonnefond, Amelie, Vonk, Judith M., Glorioso, Nicola, Lakka, Timo A., Xue, Luting, Lim, Elise, Heath, Andrew C., Loos, Ruth J.F., Haiman, Christopher A., Palmer, Lyle J., Forrester, Terrence, Sennblad, Bengt, Van Der Most, Peter J., Gudnason, Vilmundur, Collins, Francis S., Lee, Nanette R., Leander, Karin, Delgado, Graciela E., Beilby, John, Luben, Robert, Bien, Stephanie A., Pisinger, Charlotta, Uitterlinden, Andre G., Oldehinkel, Albertine J., Zubair, Niha, Montgomery, Grant W., Vohl, Marie-Claude, Mangino, Massimo, Sarzynski, Mark A., Waeber, Ge'rard, Raitakari, Olli T., Justesen, Johanne Marie, Hadley, David, Smith, Albert Vernon, Kumari, Meena, Schlessinger, David, Lehtimäki, Terho, Feitosa, Mary F., Heard-Costa, Nancy L., Den Ruijter, Hester M., Bottinger, Erwin, Padmanabhan, Sandosh, Czajkowski, Jacek, Pedersen, Oluf, Bouchard, Claude, Slagboom, P. Eline, Buyske, Steve, Stott, David J., Marten, Jonathan, Froguel, Philippe, Huang, Jie, and Ingelsson, Erik
Subjects: 3. Good health
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.

45. The burden of multiple sclerosis variants in continental Italians and Sardinians.

Author: Barizzone N, Zara I, Sorosina M, Lupoli S, Porcu E, Pitzalis M, Zoledziewska M, Esposito F, Leone M, Mulas A, Cocco E, Ferrigno P, Guerini FR, Brambilla P, Farina G, Murru R, Deidda F, Sanna S, Loi A, Barlassina C, Vecchio D, Zauli A, Clarelli F, Braga D, Poddie F, Cantello R, Martinelli V, Comi G, Frau J, Lorefice L, Pugliatti M, Rosati G, Melis M, Marrosu MG, Cusi D, Cucca F, Martinelli Boneschi F, Sanna S, and D'Alfonso S
Subjects: Biomarkers, Genotype, Humans, Italy ethnology, Polymorphism, Single Nucleotide, Risk, Genetic Predisposition to Disease, HLA Antigens genetics, Multiple Sclerosis ethnology, Multiple Sclerosis genetics
Abstract: Background: Recent studies identified > 100 non-HLA (human leukocyte antigen) multiple sclerosis (MS) susceptibility variants in Northern European populations, but their role in Southern Europeans is largely unexplored., Objective: We aimed to investigate the cumulative impact of those variants in two Mediterranean populations: Continental Italians and Sardinians., Methods: We calculated four weighted Genetic Risk Scores (wGRS), using up to 102 non-HLA MS risk variants and 5 HLA MS susceptibility markers in 1691 patients and 2194 controls from continental Italy; and 2861 patients and 3034 controls from Sardinia. We then assessed the differences between populations using Nagelkerke's R(2) and the area under the Receiver Operating Characteristic (ROC) curves., Results: As expected, the genetic burden (mean wGRS value) was significantly higher in MS patients than in controls, in both populations. Of note, the burden was significantly higher in Sardinians. Conversely, the proportion of variability explained and the predictive power were significantly higher in continental Italians. Notably, within the Sardinian patients, we also observed a significantly higher burden of non-HLA variants in individuals who do not carry HLA risk alleles., Conclusions: The observed differences in MS genetic burden between the two Mediterranean populations highlight the need for more genetic studies in South Europeans, to further expand the knowledge of MS genetics., (© The Author(s), 2015.)
Published: 2015
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46. Defining the role of common variation in the genomic and biological architecture of adult human height.

Author: Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Hall P, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard-Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing-Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller-Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma DI, Bornstein SR, Bovet P, Brambilla P, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Speliotes EK, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Boehnke M, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Franke L, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Hirschhorn JN, and Frayling TM
Subjects: Adult, Analysis of Variance, Genetics, Population, Genome-Wide Association Study methods, Humans, Oligonucleotide Array Sequence Analysis, Body Height genetics, Genetic Variation genetics, Polymorphism, Single Nucleotide genetics, White People genetics
Abstract: Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
Published: 2014
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47. Genetic burden of common variants in progressive and bout-onset multiple sclerosis.

Author: Sorosina M, Brambilla P, Clarelli F, Barizzone N, Lupoli S, Guaschino C, Osiceanu AM, Moiola L, Ghezzi A, Coniglio G, Patti F, Mancardi G, Manunta P, Glorioso N, Guerini FR, Bergamaschi R, Perla F, Martinelli V, Cusi D, Leone M, Comi G, D'Alfonso S, and Martinelli-Boneschi F
Subjects: Adolescent, Adult, Aged, Aged, 80 and over, Female, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Italy, Magnetic Resonance Imaging, Male, Middle Aged, Multiple Sclerosis, Chronic Progressive diagnostic imaging, Multiple Sclerosis, Chronic Progressive immunology, Phenotype, Risk Factors, Sex Factors, Young Adult, Multiple Sclerosis, Chronic Progressive genetics, Polymorphism, Single Nucleotide
Abstract: Background: The contribution of genetic variants underlying the susceptibility to different clinical courses of multiple sclerosis (MS) is still unclear., Objective: The aim of the study is to evaluate and compare the proportion of liability explained by common SNPs and the genetic burden of MS-associated SNPs in progressive onset (PrMS) and bout-onset (BOMS) cases., Methods: We estimated the proportion of variance in disease liability explained by 296,391 autosomal SNPs in cohorts of Italian PrMS and BOMS patients using the genome-wide complex trait analysis (GCTA) tool, and we calculated a weighted genetic risk score (wGRS) based on the known MS-associated loci., Results: Our results identified that common SNPs explain a greater proportion of phenotypic variance in BOMS (36.5%±10.1%) than PrMS (20.8%±6.0%) cases, and a trend of decrease was observed when testing primary progressive (PPMS) without brain MRI inflammatory activity (p = 7.9 × 10(-3)). Similarly, the wGRS and the variance explained by MS-associated SNPs were higher in BOMS than PPMS in males (wGRS: 6.63 vs 6.51, p = 0.04; explained variance: 4.8%±1.5% vs 1.7%±0.6%; p = 0.05)., Conclusions: Our results suggest that the liability of disease is better captured by common genetic variants in BOMS than PrMS cases. The absence of inflammatory activity and male gender further raise the difference between clinical courses., (© The Author(s) 2013.)
Published: 2014
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48. Developing a genomic-based point-of-care diagnostic system for rheumatoid arthritis and multiple sclerosis.

Author: Kalatzis FG, Giannakeas N, Exarchos TP, Lorenzelli L, Adami A, Decarli M, Lupoli S, Macciardi F, Markoula S, Georgiou I, and Fotiadis DI
Subjects: Arthritis, Rheumatoid diagnosis, Arthritis, Rheumatoid genetics, Diagnosis, Computer-Assisted methods, Genetic Predisposition to Disease genetics, Genetic Testing methods, Genomics methods, Multiple Sclerosis diagnosis, Multiple Sclerosis genetics, Oligonucleotide Array Sequence Analysis methods, Point-of-Care Systems
Abstract: In this paper the methodology of designing a genomic-based point-of-care diagnostic system composed of a microfluidic Lab-On-Chip, algorithms for microarray image information extraction and knowledge modeling of clinico-genomic patient data is presented. The data are processed by genome wide association studies for two complex diseases: rheumatoid arthritis and multiple sclerosis. Respecting current technological limitations of autonomous molecular-based Lab-On-Chip systems the approach proposed in this work aims to enhance the diagnostic accuracy of the miniaturized LOC system. By providing a decision support system based on the data mining technologies, a robust portable integrated point-of-care diagnostic assay will be implemented. Initially, the gene discovery process is described followed by the detection of the most informative SNPs associated with the diseases. The clinical data and the selected associated SNPs are modeled using data mining techniques to allow the knowledge modeling framework to provide the diagnosis for new patients performing the point-of-care examination. The microfluidic LOC device supplies the diagnostic component of the platform with a set of SNPs associated with the diseases and the ruled-based decision support system combines this genomic information with the clinical data of the patient to outcome the final diagnostic result.
Published: 2009
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