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1. A plasma protein-based risk score to predict hip fractures

Author: Austin, Thomas R., Nethander, Maria, Fink, Howard A., Törnqvist, Anna E., Jalal, Diana I., Buzkova, Petra, Barzilay, Joshua I., Carbone, Laura, Gabrielsen, Maiken E., Grahnemo, Louise, Lu, Tianyuan, Hveem, Kristian, Jonasson, Christian, Kizer, Jorge R., Langhammer, Arnulf, Mukamal, Kenneth J., Gerszten, Robert E., Psaty, Bruce M., Robbins, John A., Sun, Yan V., Skogholt, Anne Heidi, Kanis, John A., Johansson, Helena, Åsvold, Bjørn Olav, Valderrabano, Rodrigo J., Zheng, Jie, Richards, J. Brent, Coward, Eivind, and Ohlsson, Claes
Published: 2024
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2. Publisher Correction: A plasma protein-based risk score to predict hip fractures

Author: Austin, Thomas R., Nethander, Maria, Fink, Howard A., Törnqvist, Anna E., Jalal, Diana I., Buzkova, Petra, Barzilay, Joshua I., Carbone, Laura, Gabrielsen, Maiken E., Grahnemo, Louise, Lu, Tianyuan, Hveem, Kristian, Jonasson, Christian, Kizer, Jorge R., Langhammer, Arnulf, Mukamal, Kenneth J., Gerszten, Robert E., Psaty, Bruce M., Robbins, John A., Sun, Yan V., Skogholt, Anne Heidi, Kanis, John A., Johansson, Helena, Åsvold, Bjørn Olav, Valderrabano, Rodrigo J., Zheng, Jie, Richards, J. Brent, Coward, Eivind, and Ohlsson, Claes
Published: 2024
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3. Increased expression of individual genes in whole blood is associated with late-stage lung cancer at and close to diagnosis

Author: Urbarova, Ilona, Skogholt, Anne Heidi, Sun, Yi-Qian, Mai, Xiao-Mei, Grønberg, Bjørn Henning, Sandanger, Torkjel Manning, Sætrom, Pål, and Nøst, Therese Haugdahl
Published: 2023
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4. COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study

Author: Martinsen, Amy E., Skogholt, Anne Heidi, Brumpton, Ben M., Willer, Cristen J., Fors, Egil A., Kristoffersen, Espen S., Heuch, Ingrid, Mundal, Ingunn, Zwart, John-Anker, Nielsen, Jonas B., Storheim, Kjersti, Hagen, Knut, Nilsen, Kristian Bernhard, Hveem, Kristian, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Lie, Marie U., Stensland, Synne Ø., Zhou, Wei, Jacobsen, Kaya Kvarme, Børte, Sigrid, Laborie, Lene Bjerke, Kristiansen, Hege, Schäfer, Annette, Gundersen, Trude, Zayats, Tetyana, Slagsvold Winsvold, Bendik Kristoffer, and Rosendahl, Karen
Published: 2024
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5. Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

Author: Eijsbouts, Chris, Zheng, Tenghao, Kennedy, Nicholas A, Bonfiglio, Ferdinando, Anderson, Carl A, Moutsianas, Loukas, Holliday, Joanne, Shi, Jingchunzi, Shringarpure, Suyash, Voda, Alexandru-Ioan, Farrugia, Gianrico, Franke, Andre, Hübenthal, Matthias, Abecasis, Gonçalo, Zawistowski, Matthew, Skogholt, Anne Heidi, Ness-Jensen, Eivind, Hveem, Kristian, Esko, Tõnu, Teder-Laving, Maris, Zhernakova, Alexandra, Camilleri, Michael, Boeckxstaens, Guy, Whorwell, Peter J, Spiller, Robin, McVean, Gil, D’Amato, Mauro, Jostins, Luke, and Parkes, Miles
Subjects: Human Genome, Behavioral and Social Science, Mental Health, Neurosciences, Chronic Pain, Genetics, Pain Research, Digestive Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Oral and gastrointestinal, Mental health, Neurological, Aged, Anxiety Disorders, CD56 Antigen, Cell Adhesion Molecules, Cytoskeletal Proteins, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanine Nucleotide Exchange Factors, Homeodomain Proteins, Humans, Irritable Bowel Syndrome, Male, Middle Aged, Molecular Chaperones, Mood Disorders, Polymorphism, Single Nucleotide, United Kingdom, 23andMe Research Team, Bellygenes Initiative, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: Irritable bowel syndrome (IBS) results from disordered brain-gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. We conducted a genome-wide association study with 53,400 cases and 433,201 controls and replicated significant associations in a 23andMe panel (205,252 cases and 1,384,055 controls). Our study identified and confirmed six genetic susceptibility loci for IBS. Implicated genes included NCAM1, CADM2, PHF2/FAM120A, DOCK9, CKAP2/TPTE2P3 and BAG6. The first four are associated with mood and anxiety disorders, expressed in the nervous system, or both. Mirroring this, we also found strong genome-wide correlation between the risk of IBS and anxiety, neuroticism and depression (rg > 0.5). Additional analyses suggested this arises due to shared pathogenic pathways rather than, for example, anxiety causing abdominal symptoms. Implicated mechanisms require further exploration to help understand the altered brain-gut interactions underlying IBS.
Published: 2021

6. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Author: Nielsen, Jonas B, Rom, Oren, Surakka, Ida, Graham, Sarah E, Zhou, Wei, Roychowdhury, Tanmoy, Fritsche, Lars G, Gagliano Taliun, Sarah A, Sidore, Carlo, Liu, Yuhao, Gabrielsen, Maiken E, Skogholt, Anne Heidi, Wolford, Brooke, Overton, William, Zhao, Ying, Chen, Jin, Zhang, He, Hornsby, Whitney E, Acheampong, Akua, Grooms, Austen, Schaefer, Amanda, Zajac, Gregory JM, Villacorta, Luis, Zhang, Jifeng, Brumpton, Ben, Løset, Mari, Rai, Vivek, Lundegaard, Pia R, Olesen, Morten S, Taylor, Kent D, Palmer, Nicholette D, Chen, Yii-Der, Choi, Seung H, Lubitz, Steven A, Ellinor, Patrick T, Barnes, Kathleen C, Daya, Michelle, Rafaels, Nicholas, Weiss, Scott T, Lasky-Su, Jessica, Tracy, Russell P, Vasan, Ramachandran S, Cupples, L Adrienne, Mathias, Rasika A, Yanek, Lisa R, Becker, Lewis C, Peyser, Patricia A, Bielak, Lawrence F, Smith, Jennifer A, Aslibekyan, Stella, Hidalgo, Bertha A, Arnett, Donna K, Irvin, Marguerite R, Wilson, James G, Musani, Solomon K, Correa, Adolfo, Rich, Stephen S, Guo, Xiuqing, Rotter, Jerome I, Konkle, Barbara A, Johnsen, Jill M, Ashley-Koch, Allison E, Telen, Marilyn J, Sheehan, Vivien A, Blangero, John, Curran, Joanne E, Peralta, Juan M, Montgomery, Courtney, Sheu, Wayne H-H, Chung, Ren-Hua, Schwander, Karen, Nouraie, Seyed M, Gordeuk, Victor R, Zhang, Yingze, Kooperberg, Charles, Reiner, Alexander P, Jackson, Rebecca D, Bleecker, Eugene R, Meyers, Deborah A, Li, Xingnan, Das, Sayantan, Yu, Ketian, LeFaive, Jonathon, Smith, Albert, Blackwell, Tom, Taliun, Daniel, Zollner, Sebastian, Forer, Lukas, Schoenherr, Sebastian, Fuchsberger, Christian, Pandit, Anita, Zawistowski, Matthew, Kheterpal, Sachin, Brummett, Chad M, Natarajan, Pradeep, Schlessinger, David, Lee, Seunggeun, Kang, Hyun Min, Cucca, Francesco, and Holmen, Oddgeir L
Subjects: Liver, Humans, Cardiovascular Diseases, Lipids, Receptors, LDL, Gene Targeting, Gene Silencing, Genome, Human, Biological Specimen Banks, Genome-Wide Association Study, Molecular Targeted Therapy, United Kingdom, Loss of Function Mutation, Phenomics
Abstract: Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n = 69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P = 1.3 × 10-8) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD.
Published: 2020

7. Genetic diversity fuels gene discovery for tobacco and alcohol use

Author: Saunders, Gretchen R. B., Wang, Xingyan, Chen, Fang, Jang, Seon-Kyeong, Liu, Mengzhen, Wang, Chen, Gao, Shuang, Jiang, Yu, Khunsriraksakul, Chachrit, Otto, Jacqueline M., Addison, Clifton, Akiyama, Masato, Albert, Christine M., Aliev, Fazil, Alonso, Alvaro, Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Barr, R. Graham, Bartz, Traci M., Becker, Diane M., Bielak, Lawrence F., Benjamin, Emelia J., Bis, Joshua C., Bjornsdottir, Gyda, Blangero, John, Bleecker, Eugene R., Boardman, Jason D., Boerwinkle, Eric, Boomsma, Dorret I., Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chasman, Daniel I., Chavan, Sameer, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Iona, Cho, Michael H., Choquet, Hélène, Cole, John W., Cornelis, Marilyn C., Cucca, Francesco, Curran, Joanne E., de Andrade, Mariza, Dick, Danielle M., Docherty, Anna R., Duggirala, Ravindranath, Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Faul, Jessica D., Silva, Lilian Fernandes, Fiorillo, Edoardo, Fornage, Myriam, Freedman, Barry I., Gabrielsen, Maiken E., Garrett, Melanie E., Gharib, Sina A., Gieger, Christian, Gillespie, Nathan, Glahn, David C., Gordon, Scott D., Gu, Charles C., Gu, Dongfeng, Gudbjartsson, Daniel F., Guo, Xiuqing, Haessler, Jeffrey, Hall, Michael E., Haller, Toomas, Harris, Kathleen Mullan, He, Jiang, Herd, Pamela, Hewitt, John K., Hickie, Ian, Hidalgo, Bertha, Hokanson, John E., Hopfer, Christian, Hottenga, JoukeJan, Hou, Lifang, Huang, Hongyan, Hung, Yi-Jen, Hunter, David J., Hveem, Kristian, Hwang, Shih-Jen, Hwu, Chii-Min, Iacono, William, Irvin, Marguerite R., Jee, Yon Ho, Johnson, Eric O., Joo, Yoonjung Y., Jorgenson, Eric, Justice, Anne E., Kamatani, Yoichiro, Kaplan, Robert C., Kaprio, Jaakko, Kardia, Sharon L. R., Keller, Matthew C., Kelly, Tanika N., Kooperberg, Charles, Korhonen, Tellervo, Kraft, Peter, Krauter, Kenneth, Kuusisto, Johanna, Laakso, Markku, Lasky-Su, Jessica, Lee, Wen-Jane, Lee, James J., Levy, Daniel, Li, Liming, Li, Kevin, Li, Yuqing, Lin, Kuang, Lind, Penelope A., Liu, Chunyu, Lloyd-Jones, Donald M., Lutz, Sharon M., Ma, Jiantao, Mägi, Reedik, Manichaikul, Ani, Martin, Nicholas G., Mathur, Ravi, Matoba, Nana, McArdle, Patrick F., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Meyers, Deborah A., Millwood, Iona Y., Mitchell, Braxton D., Mohlke, Karen L., Moll, Matthew, Montasser, May E., Morrison, Alanna C., Mulas, Antonella, Nielsen, Jonas B., North, Kari E., Oelsner, Elizabeth C., Okada, Yukinori, Orrù, Valeria, Palmer, Nicholette D., Palviainen, Teemu, Pandit, Anita, Park, S. Lani, Peters, Ulrike, Peters, Annette, Peyser, Patricia A., Polderman, Tinca J. C., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alex P., Rice, John P., Rich, Stephen S., Richmond, Nicole E., Roan, Carol, Rotter, Jerome I., Rueschman, Michael N., Runarsdottir, Valgerdur, Saccone, Nancy L., Schwartz, David A., Shadyab, Aladdin H., Shi, Jingchunzi, Shringarpure, Suyash S., Sicinski, Kamil, Skogholt, Anne Heidi, Smith, Jennifer A., Smith, Nicholas L., Sotoodehnia, Nona, Stallings, Michael C., Stefansson, Hreinn, Stefansson, Kari, Stitzel, Jerry A., Sun, Xiao, Syed, Moin, Tal-Singer, Ruth, Taylor, Amy E., Taylor, Kent D., Telen, Marilyn J., Thai, Khanh K., Tiwari, Hemant, Turman, Constance, Tyrfingsson, Thorarinn, Wall, Tamara L., Walters, Robin G., Weir, David R., Weiss, Scott T., White, Wendy B., Whitfield, John B., Wiggins, Kerri L., Willemsen, Gonneke, Willer, Cristen J., Winsvold, Bendik S., Xu, Huichun, Yanek, Lisa R., Yin, Jie, Young, Kristin L., Young, Kendra A., Yu, Bing, Zhao, Wei, Zhou, Wei, Zöllner, Sebastian, Zuccolo, Luisa, Batini, Chiara, Bergen, Andrew W., Bierut, Laura J., David, Sean P., Gagliano Taliun, Sarah A., Hancock, Dana B., Jiang, Bibo, Munafò, Marcus R., Thorgeirsson, Thorgeir E., Liu, Dajiang J., and Vrieze, Scott
Published: 2022
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8. Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

Author: Surakka, Ida, Wu, Kuan-Han, Hornsby, Whitney, Wolford, Brooke N., Shen, Fred, Zhou, Wei, Huffman, Jennifer E., Pandit, Anita, Hu, Yao, Brumpton, Ben, Skogholt, Anne Heidi, Gabrielsen, Maiken E., Walters, Robin G., Hveem, Kristian, Kooperberg, Charles, Zöllner, Sebastian, Wilson, Peter W.F., Sutton, Nadia R., Daly, Mark J., Neale, Benjamin M., and Willer, Cristen J.
Published: 2023
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9. Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Author: Liu, Mengzhen, Jiang, Yu, Wedow, Robbee, Li, Yue, Brazel, David M, Chen, Fang, Datta, Gargi, Davila-Velderrain, Jose, McGuire, Daniel, Tian, Chao, Zhan, Xiaowei, Choquet, Hélène, Docherty, Anna R, Faul, Jessica D, Foerster, Johanna R, Fritsche, Lars G, Gabrielsen, Maiken Elvestad, Gordon, Scott D, Haessler, Jeffrey, Hottenga, Jouke-Jan, Huang, Hongyan, Jang, Seon-Kyeong, Jansen, Philip R, Ling, Yueh, Mägi, Reedik, Matoba, Nana, McMahon, George, Mulas, Antonella, Orrù, Valeria, Palviainen, Teemu, Pandit, Anita, Reginsson, Gunnar W, Skogholt, Anne Heidi, Smith, Jennifer A, Taylor, Amy E, Turman, Constance, Willemsen, Gonneke, Young, Hannah, Young, Kendra A, Zajac, Gregory JM, Zhao, Wei, Zhou, Wei, Bjornsdottir, Gyda, Boardman, Jason D, Boehnke, Michael, Boomsma, Dorret I, Chen, Chu, Cucca, Francesco, Davies, Gareth E, Eaton, Charles B, Ehringer, Marissa A, Esko, Tõnu, Fiorillo, Edoardo, Gillespie, Nathan A, Gudbjartsson, Daniel F, Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C, Hewitt, John K, Hickie, Ian B, Hokanson, John E, Hopfer, Christian J, Hunter, David J, Iacono, William G, Johnson, Eric O, Kamatani, Yoichiro, Kardia, Sharon LR, Keller, Matthew C, Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S, Laakso, Markku, Lind, Penelope A, Loukola, Anu, Lutz, Sharon M, Madden, Pamela AF, Martin, Nicholas G, McGue, Matt, McQueen, Matthew B, Medland, Sarah E, Metspalu, Andres, Mohlke, Karen L, Nielsen, Jonas B, Okada, Yukinori, Peters, Ulrike, Polderman, Tinca JC, Posthuma, Danielle, Reiner, Alexander P, Rice, John P, Rimm, Eric, Rose, Richard J, Runarsdottir, Valgerdur, Stallings, Michael C, Stančáková, Alena, Stefansson, Hreinn, Thai, Khanh K, Tindle, Hilary A, Tyrfingsson, Thorarinn, and Wall, Tamara L
Subjects: Substance Misuse, Human Genome, Brain Disorders, Tobacco, Tobacco Smoke and Health, Genetics, Alcoholism, Alcohol Use and Health, Prevention, Aetiology, 2.1 Biological and endogenous factors, Stroke, Cancer, Cardiovascular, Good Health and Well Being, Alcohol Drinking, Female, Genetic Variation, Genome-Wide Association Study, Humans, Male, Middle Aged, Phenotype, Risk, Smoking, Tobacco Use Disorder, 23andMe Research Team, HUNT All-In Psychiatry, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11. In sample sizes up to 1.2 million individuals, we discovered 566 genetic variants in 406 loci associated with multiple stages of tobacco use (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci evidencing pleiotropic association. Smoking phenotypes were positively genetically correlated with many health conditions, whereas alcohol use was negatively correlated with these conditions, such that increased genetic risk for alcohol use is associated with lower disease risk. We report evidence for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission. The results provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures.
Published: 2019

10. The HUNT study: A population-based cohort for genetic research

Author: Brumpton, Ben M., Graham, Sarah, Surakka, Ida, Skogholt, Anne Heidi, Løset, Mari, Fritsche, Lars G., Wolford, Brooke, Zhou, Wei, Nielsen, Jonas Bille, Holmen, Oddgeir L., Gabrielsen, Maiken E., Thomas, Laurent, Bhatta, Laxmi, Rasheed, Humaira, Zhang, He, Kang, Hyun Min, Hornsby, Whitney, Moksnes, Marta Riise, Coward, Eivind, Melbye, Mads, Giskeødegård, Guro F., Fenstad, Jørn, Krokstad, Steinar, Næss, Marit, Langhammer, Arnulf, Boehnke, Michael, Abecasis, Gonçalo R., Åsvold, Bjørn Olav, Hveem, Kristian, and Willer, Cristen J.
Published: 2022
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11. Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

Author: Hautakangas, Heidi, Winsvold, Bendik S., Ruotsalainen, Sanni E., Bjornsdottir, Gyda, Harder, Aster V. E., Kogelman, Lisette J. A., Thomas, Laurent F., Noordam, Raymond, Benner, Christian, Gormley, Padhraig, Artto, Ville, Banasik, Karina, Bjornsdottir, Anna, Boomsma, Dorret I., Brumpton, Ben M., Burgdorf, Kristoffer Sølvsten, Buring, Julie E., Chalmer, Mona Ameri, de Boer, Irene, Dichgans, Martin, Erikstrup, Christian, Färkkilä, Markus, Garbrielsen, Maiken Elvestad, Ghanbari, Mohsen, Hagen, Knut, Häppölä, Paavo, Hottenga, Jouke-Jan, Hrafnsdottir, Maria G., Hveem, Kristian, Johnsen, Marianne Bakke, Kähönen, Mika, Kristoffersen, Espen S., Kurth, Tobias, Lehtimäki, Terho, Lighart, Lannie, Magnusson, Sigurdur H., Malik, Rainer, Pedersen, Ole Birger, Pelzer, Nadine, Penninx, Brenda W. J. H., Ran, Caroline, Ridker, Paul M., Rosendaal, Frits R., Sigurdardottir, Gudrun R., Skogholt, Anne Heidi, Sveinsson, Olafur A., Thorgeirsson, Thorgeir E., Ullum, Henrik, Vijfhuizen, Lisanne S., Widén, Elisabeth, van Dijk, Ko Willems, Aromaa, Arpo, Belin, Andrea Carmine, Freilinger, Tobias, Ikram, M. Arfan, Järvelin, Marjo-Riitta, Raitakari, Olli T., Terwindt, Gisela M., Kallela, Mikko, Wessman, Maija, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Stefánsson, Hreinn, Stefansson, Kari, van den Maagdenberg, Arn M. J. M., Hansen, Thomas Folkmann, Ripatti, Samuli, Zwart, John-Anker, Palotie, Aarno, and Pirinen, Matti
Published: 2022
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12. COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study

Author: Jacobsen, Kaya Kvarme, primary, Børte, Sigrid, additional, Laborie, Lene Bjerke, additional, Kristiansen, Hege, additional, Schäfer, Annette, additional, Gundersen, Trude, additional, Zayats, Tetyana, additional, Slagsvold Winsvold, Bendik Kristoffer, additional, Rosendahl, Karen, additional, Martinsen, Amy E., additional, Skogholt, Anne Heidi, additional, Brumpton, Ben M., additional, Willer, Cristen J., additional, Fors, Egil A., additional, Kristoffersen, Espen S., additional, Heuch, Ingrid, additional, Mundal, Ingunn, additional, Zwart, John-Anker, additional, Nielsen, Jonas B., additional, Storheim, Kjersti, additional, Hagen, Knut, additional, Nilsen, Kristian Bernhard, additional, Hveem, Kristian, additional, Fritsche, Lars G., additional, Thomas, Laurent F., additional, Pedersen, Linda M., additional, Gabrielsen, Maiken E., additional, Lie, Marie U., additional, Stensland, Synne Ø., additional, and Zhou, Wei, additional
Published: 2024
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13. A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle
Published: 2021
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14. Evaluation of risk prediction models to select lung cancer screening participants in Europe: a prospective cohort consortium analysis

Author: Feng, Xiaoshuang, Goodley, Patrick, Alcala, Karine, Guida, Florence, Kaaks, Rudolf, Vermeulen, Roel, Downward, George S, Bonet, Catalina, Colorado-Yohar, Sandra M, Albanes, Demetrius, Weinstein, Stephanie J, Goldberg, Marcel, Zins, Marie, Relton, Caroline, Langhammer, Arnulf, Skogholt, Anne Heidi, Johansson, Mattias, and Robbins, Hilary A
Abstract: Lung cancer risk prediction models might efficiently identify individuals who should be offered lung cancer screening. However, their performance has not been comprehensively evaluated in Europe. We aimed to externally validate and evaluate the performance of several risk prediction models that predict lung cancer incidence or mortality in prospective European cohorts.
Published: 2024
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15. Evaluation of risk prediction models to select lung cancer screening participants in Europe: a prospective cohort consortium analysis

Author: Planetary Health & Exposoom, Cancer, Circulatory Health, Feng, Xiaoshuang, Goodley, Patrick, Alcala, Karine, Guida, Florence, Kaaks, Rudolf, Vermeulen, Roel, Downward, George S, Bonet, Catalina, Colorado-Yohar, Sandra M, Albanes, Demetrius, Weinstein, Stephanie J, Goldberg, Marcel, Zins, Marie, Relton, Caroline, Langhammer, Arnulf, Skogholt, Anne Heidi, Johansson, Mattias, Robbins, Hilary A, Planetary Health & Exposoom, Cancer, Circulatory Health, Feng, Xiaoshuang, Goodley, Patrick, Alcala, Karine, Guida, Florence, Kaaks, Rudolf, Vermeulen, Roel, Downward, George S, Bonet, Catalina, Colorado-Yohar, Sandra M, Albanes, Demetrius, Weinstein, Stephanie J, Goldberg, Marcel, Zins, Marie, Relton, Caroline, Langhammer, Arnulf, Skogholt, Anne Heidi, Johansson, Mattias, and Robbins, Hilary A
Published: 2024

16. Genome-wide association studies reveal differences in genetic susceptibility between single events versus recurrent events of atrial fibrillation and myocardial infarction: the HUNT study

Author: Hall, Martina, primary, Skogholt, Anne Heidi, additional, Surakka, Ida, additional, Dalen, Haavard, additional, and Almaas, Eivind, additional
Published: 2024
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17. Large-scale circulating proteome association study (CPAS) meta-analysis identifies circulating proteins and pathways predicting incident hip fractures

Author: Austin, Thomas R, primary, Fink, Howard A, additional, Jalal, Diana I, additional, Törnqvist, Anna E, additional, Buzkova, Petra, additional, Barzilay, Joshua I, additional, Lu, Tianyuan, additional, Carbone, Laura, additional, Gabrielsen, Maiken E, additional, Grahnemo, Louise, additional, Hveem, Kristian, additional, Jonasson, Christian, additional, Kizer, Jorge R, additional, Langhammer, Arnulf, additional, Mukamal, Kenneth J, additional, Gerszten, Robert E, additional, Nethander, Maria, additional, Psaty, Bruce M, additional, Robbins, John A, additional, Sun, Yan V, additional, Skogholt, Anne Heidi, additional, Åsvold, Bjørn Olav, additional, Valderrabano, Rodrigo J, additional, Zheng, Jie, additional, Richards, J Brent, additional, Coward, Eivind, additional, and Ohlsson, Claes, additional
Published: 2024
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18. Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer

Author: Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Davey Smith, George, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., and Åsvold, Bjørn Olav
Published: 2021
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19. Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle
Published: 2022
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20. Genome-wide association studies reveal differences in genetic susceptibility between single events vs. recurrent events of atrial fibrillation and myocardial infarction: the HUNT study.

Author: Hall, Martina, Skogholt, Anne Heidi, Surakka, Ida, Dalen, Haavard, and Almaas, Eivind
Published: 2024
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21. GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Author: Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Davey Smith, George, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., and Åsvold, Bjørn Olav
Published: 2020
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22. Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle
Published: 2021
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23. Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program

Author: Klarin, Derek, Verma, Shefali Setia, Judy, Renae, Dikilitas, Ozan, Wolford, Brooke N., Paranjpe, Ishan, Levin, Michael G., Pan, Cuiping, Tcheandjieu, Catherine, Spin, Joshua M., Lynch, Julie, Assimes, Themistocles L., Åldstedt Nyrønning, Linn, Mattsson, Erney, Edwards, Todd L., Denny, Josh, Larson, Eric, Lee, Ming Ta Michael, Carrell, David, Zhang, Yanfei, Jarvik, Gail P., Gharavi, Ali G., Harley, John, Mentch, Frank, Pacheco, Jennifer A., Hakonarson, Hakon, Skogholt, Anne Heidi, Thomas, Laurent, Gabrielsen, Maiken Elvestad, Hveem, Kristian, Nielsen, Jonas Bille, Zhou, Wei, Fritsche, Lars, Huang, Jie, Natarajan, Pradeep, Sun, Yan V., DuVall, Scott L., Rader, Daniel J., Cho, Kelly, Chang, Kyong-Mi, Wilson, Peter W.F., O’Donnell, Christopher J., Kathiresan, Sekar, Scali, Salvatore T., Berceli, Scott A., Willer, Cristen, Jones, Gregory T., Bown, Matthew J., Nadkarni, Girish, Kullo, Iftikhar J., Ritchie, Marylyn, Damrauer, Scott M., and Tsao, Philip S.
Published: 2020
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24. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Author: Nielsen, Jonas B., Thorolfsdottir, Rosa B., Fritsche, Lars G., Zhou, Wei, Skov, Morten W., Graham, Sarah E., Herron, Todd J., McCarthy, Shane, Schmidt, Ellen M., Sveinbjornsson, Gardar, Surakka, Ida, Mathis, Michael R., Yamazaki, Masatoshi, Crawford, Ryan D., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Holmen, Oddgeir L., Lin, Maoxuan, Wolford, Brooke N., Dey, Rounak, Dalen, Håvard, Sulem, Patrick, Chung, Jonathan H., Backman, Joshua D., Arnar, David O., Thorsteinsdottir, Unnur, Baras, Aris, O’Dushlaine, Colm, Holst, Anders G., Wen, Xiaoquan, Hornsby, Whitney, Dewey, Frederick E., Boehnke, Michael, Kheterpal, Sachin, Mukherjee, Bhramar, Lee, Seunggeun, Kang, Hyun M., Holm, Hilma, Kitzman, Jacob, Shavit, Jordan A., Jalife, José, Brummett, Chad M., Teslovich, Tanya M., Carey, David J., Gudbjartsson, Daniel F., Stefansson, Kari, Abecasis, Gonçalo R., Hveem, Kristian, and Willer, Cristen J.
Published: 2018
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25. The accuracy of the clinical diagnosis of Parkinson disease. The HUNT study

Author: Hustad, Eldbjørg, Skogholt, Anne Heidi, Hveem, Kristian, and Aasly, Jan O.
Published: 2018
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26. Increased levels of microRNA-320 in blood serum and plasma is associated with imminent and advanced lung cancer

Author: Nøst, Therese Haugdahl, Skogholt, Anne Heidi, Urbarova, Ilona, Mjelle, Robin, Paulsen, Erna-Elise, Dønnem, Tom, Andersen, Sigve, Markaki, Maria, Røe, Oluf Dimitri, Johansson, Mikael, Johansson, Mattias, Grønberg, Bjørn Henning, Sandanger, Torkjel Manning, Sætrom, Pål, Nøst, Therese Haugdahl, Skogholt, Anne Heidi, Urbarova, Ilona, Mjelle, Robin, Paulsen, Erna-Elise, Dønnem, Tom, Andersen, Sigve, Markaki, Maria, Røe, Oluf Dimitri, Johansson, Mikael, Johansson, Mattias, Grønberg, Bjørn Henning, Sandanger, Torkjel Manning, and Sætrom, Pål
Abstract: Lung cancer (LC) incidence is increasing globally and altered levels of microRNAs (miRNAs) in blood may contribute to identification of individuals with LC. We identified miRNAs differentially expressed in peripheral blood at LC diagnosis and evaluated, in pre-diagnostic blood specimens, how long before diagnosis expression changes in such candidate miRNAs could be detected. We identified upregulated candidate miRNAs in plasma specimens from a hospital-based study sample of 128 patients with confirmed LC and 62 individuals with suspected but confirmed negative LC (FalsePos). We then evaluated the expression of candidate miRNAs in pre-diagnostic plasma or serum specimens of 360 future LC cases and 375 matched controls. There were 1663 miRNAs detected in diagnostic specimens, nine of which met our criteria for candidate miRNAs. Higher expression of three candidates, miR-320b, 320c, and 320d, was associated with poor survival, independent of LC stage and subtype. Moreover, miR-320c and miR-320d expression was higher in pre-diagnostic specimens collected within 2 years of LC diagnosis. Our results indicated that elevated levels of miR-320c and miR-320d may be early indications of imminent and advanced LC.
Published: 2023
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27. Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor

Author: Winsvold, Bendik S., Harder, Aster V. E., Ran, Caroline, Chalmer, Mona A., Dalmasso, Maria Carolina, Ferkingstad, Egil, Tripathi, Kumar Parijat, Bacchelli, Elena, Børte, Sigrid, Fourier, Carmen, Petersen, Anja S., Vijfhuizen, Lisanne S., Magnusson, Sigurdur H., O'Connor, Emer, Bjornsdottir, Gyda, Häppölä, Paavo, Wang, Yen Feng, Callesen, Ida, Kelderman, Tim, Gallardo, Victor J., de Boer, Irene, Olofsgård, Felicia Jennysdotter, Heinze, Katja, Lund, Nunu, Thomas, Laurent F., Hsu, Chia Lin, Pirinen, Matti, Hautakangas, Heidi, Ribasés, Marta, Guerzoni, Simona, Sivakumar, Prasanth, Yip, Janice, Heinze, Axel, Küçükali, Fahri, Ostrowski, Sisse R., Pedersen, Ole B., Kristoffersen, Espen S., Martinsen, Amy E., Artigas, María S., Lagrata, Susie, Cainazzo, Maria Michela, Adebimpe, Joycee, Quinn, Olivia, Göbel, Carl, Cirkel, Anna, Volk, Alexander E., Heilmann-Heimbach, Stefanie, Skogholt, Anne Heidi, Gabrielsen, Maiken E., Wilbrink, Leopoldine A., Danno, Daisuke, Mehta, Dwij, Guðbjartsson, Daníel F., Rosendaal, Frits R., Willems van Dijk, Ko, Fronczek, Rolf, Wagner, Michael, Scherer, Martin, Göbel, Hartmut, Sleegers, Kristel, Sveinsson, Olafur A., Pani, Luca, Zoli, Michele, Ramos-Quiroga, Josep A., Dardiotis, Efthimios, Steinberg, Anna, Riedel-Heller, Steffi, Sjöstrand, Christina, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, Southgate, Laura, Trembath, Richard C., Vandrovcova, Jana, Noordam, Raymond, Paemeleire, Koen, Stefansson, Kari, Fann, Cathy Shen Jang, Waldenlind, Elisabet, Tronvik, Erling, Jensen, Rigmor H., Chen, Shih Pin, Houlden, Henry, Terwindt, Gisela M., Kubisch, Christian, Maestrini, Elena, Vikelis, Michail, Pozo-Rosich, Patricia, Belin, Andrea C., Matharu, Manjit, van den Maagdenberg, Arn M. J. M., Hansen, Thomas F., Ramirez, Alfredo, Zwart, John-Anker, Winsvold, Bendik S., Harder, Aster V. E., Ran, Caroline, Chalmer, Mona A., Dalmasso, Maria Carolina, Ferkingstad, Egil, Tripathi, Kumar Parijat, Bacchelli, Elena, Børte, Sigrid, Fourier, Carmen, Petersen, Anja S., Vijfhuizen, Lisanne S., Magnusson, Sigurdur H., O'Connor, Emer, Bjornsdottir, Gyda, Häppölä, Paavo, Wang, Yen Feng, Callesen, Ida, Kelderman, Tim, Gallardo, Victor J., de Boer, Irene, Olofsgård, Felicia Jennysdotter, Heinze, Katja, Lund, Nunu, Thomas, Laurent F., Hsu, Chia Lin, Pirinen, Matti, Hautakangas, Heidi, Ribasés, Marta, Guerzoni, Simona, Sivakumar, Prasanth, Yip, Janice, Heinze, Axel, Küçükali, Fahri, Ostrowski, Sisse R., Pedersen, Ole B., Kristoffersen, Espen S., Martinsen, Amy E., Artigas, María S., Lagrata, Susie, Cainazzo, Maria Michela, Adebimpe, Joycee, Quinn, Olivia, Göbel, Carl, Cirkel, Anna, Volk, Alexander E., Heilmann-Heimbach, Stefanie, Skogholt, Anne Heidi, Gabrielsen, Maiken E., Wilbrink, Leopoldine A., Danno, Daisuke, Mehta, Dwij, Guðbjartsson, Daníel F., Rosendaal, Frits R., Willems van Dijk, Ko, Fronczek, Rolf, Wagner, Michael, Scherer, Martin, Göbel, Hartmut, Sleegers, Kristel, Sveinsson, Olafur A., Pani, Luca, Zoli, Michele, Ramos-Quiroga, Josep A., Dardiotis, Efthimios, Steinberg, Anna, Riedel-Heller, Steffi, Sjöstrand, Christina, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, Southgate, Laura, Trembath, Richard C., Vandrovcova, Jana, Noordam, Raymond, Paemeleire, Koen, Stefansson, Kari, Fann, Cathy Shen Jang, Waldenlind, Elisabet, Tronvik, Erling, Jensen, Rigmor H., Chen, Shih Pin, Houlden, Henry, Terwindt, Gisela M., Kubisch, Christian, Maestrini, Elena, Vikelis, Michail, Pozo-Rosich, Patricia, Belin, Andrea C., Matharu, Manjit, van den Maagdenberg, Arn M. J. M., Hansen, Thomas F., Ramirez, Alfredo, and Zwart, John-Anker
Abstract: Objective The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry. In a secondary trans-ancestry meta-analysis, we included 734 cases and 9,846 controls of East Asian ancestry. Candidate causal genes were prioritized by 5 complementary methods: expression quantitative trait loci, transcriptome-wide association, fine-mapping of causal gene sets, genetically driven DNA methylation, and effects on protein structure. Gene set and tissue enrichment analyses, genetic correlation, genetic risk score analysis, and Mendelian randomization were part of the downstream analyses. Results The estimated single nucleotide polymorphism (SNP)-based heritability of cluster headache was 14.5%. We identified 9 independent signals in 7 genomewide significant loci in the primary meta-analysis, and one additional locus in the trans-ethnic meta-analysis. Five of the loci were previously known. The 20 genes prioritized as potentially causal for cluster headache showed enrichment to artery and brain tissue. Cluster headache was genetically correlated with cigarette smoking, risk-taking behavior, attention deficit hyperactivity disorder (ADHD), depression, and musculoskeletal pain. Mendelian randomization analysis indicated a causal effect of cigarette smoking intensity on cluster headache. Three of the identified loci were shared with migraine. Interpretation This first genomewide association study meta-analysis gives clues to the biological basis of cluster headache and indicates that smoking is a causal risk factor. ANN NEUROL, Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods: A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry. In a secondary trans-ancestry meta-analysis, we included 734 cases and 9,846 controls of East Asian ancestry. Candidate causal genes were prioritized by 5 complementary methods: expression quantitative trait loci, transcriptome-wide association, fine-mapping of causal gene sets, genetically driven DNA methylation, and effects on protein structure. Gene set and tissue enrichment analyses, genetic correlation, genetic risk score analysis, and Mendelian randomization were part of the downstream analyses. Results: The estimated single nucleotide polymorphism (SNP)-based heritability of cluster headache was 14.5%. We identified 9 independent signals in 7 genomewide significant loci in the primary meta-analysis, and one additional locus in the trans-ethnic meta-analysis. Five of the loci were previously known. The 20 genes prioritized as potentially causal for cluster headache showed enrichment to artery and brain tissue. Cluster headache was genetically correlated with cigarette smoking, risk-taking behavior, attention deficit hyperactivity disorder (ADHD), depression, and musculoskeletal pain. Mendelian randomization analysis indicated a causal effect of cigarette smoking intensity on cluster headache. Three of the identified loci were shared with migraine. Interpretation: This first genomewide association study meta-analysis gives clues to the biological basis of cluster headache and indicates that smoking is a causal risk factor. ANN NEUROL 2023.
Published: 2023

28. Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

Author: Graham, Sarah E., Nielsen, Jonas B., Zawistowski, Matthew, Zhou, Wei, Fritsche, Lars G., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Hornsby, Whitney E., Fermin, Damian, Larach, Daniel B., Kheterpal, Sachin, Brummett, Chad M., Lee, Seunggeun, Kang, Hyun Min, Abecasis, Goncalo R., Romundstad, Solfrid, Hallan, Stein, Sampson, Matthew G., Hveem, Kristian, and Willer, Cristen J.
Published: 2019
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29. Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Author: Bjornsdottir, Gyda, Stefánsdóttir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkársdóttir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Andersen, Steffen, Brunak, Søren, Burgdorf, Kristoffer, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Per Ingemar, Nielsen, Kasper Rene, Nyegaard, Mette, Bruun, Mie Topholm, Pedersen, Ole Birger, Dinh, Khoa Manh, Sørensen, Erik, Ostrowski, Sisse R., Johansson, Pär Ingemar, Gudbjartsson, Daniel F., Stefansson, Hreinn, Þorsteinsdóttir, Unnur, Larsen, Margit Anita Hørup, Didriksen, Maria, Sækmose, Susanne, Zeggini, Eleftheria, Hatzikotoulas, Konstantinos, Southam, Lorraine, Gilly, Arthur, Barysenka, Andrei, van Meurs, Joyce B. J., Boer, Cindy G., Uitterlinden, André G., Jonsson, Helgi, Ingvarsson, Thorvaldur, Esko, Tõnu, Mägi, Reedik, Teder-Laving, Maris, Ikegawa, Shiro, Terao, Chikashi, Takuwa, Hiroshi, Meulenbelt, Ingrid, Coutinho de Almeida, Rodrigo, Kloppenburg, Margreet, Tuerlings, Margo, Slagboom, P. Eline, Nelissen, Rob R. G. H. H., Valdes, Ana M., Mangino, Massimo, Tsezou, Aspasia, Zengini, Eleni, Alexiadis, George, Babis, George C., Cheah, Kathryn S. E., Wu, Tian T., Samartzis, Dino, Cheung, Jason Pui Yin, Sham, Pak Chung, Kraft, Peter, Kang, Jae Hee, Hveem, Kristian, Zwart, John-Anker, Luetge, Almut, Skogholt, Anne Heidi, Johnsen, Marianne B., Thomas, Laurent F., Winsvold, Bendik, Gabrielsen, Maiken E., Lee, Ming Ta Michael, Zhang, Yanfei, Lietman, Steven A., Shivakumar, Manu, Smith, George Davey, Tobias, Jonathan H., Hartley, April, Gaunt, Tom R., Zheng, Jie, Wilkinson, J. Mark, Steinberg, Julia, Morris, Andrew P., Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ullum, Henrik, Thorsteinsdottir, Unnur, Thorgeirsson, Thorgeir E., Stefansson, Kari, Consortium, DBDS Genetic, Consortium, GO, and Internal Medicine
Subjects: Science, General Physics and Astronomy, Intervertebral Disc Degeneration, Intervertebral Disc/metabolism, Bone and Bones/metabolism, Bone and Bones, General Biochemistry, Genetics and Molecular Biology, health services administration, Humans, Sodium Sulfate Cotransporter/genetics, Intervertebral Disc, 3' Untranslated Regions, health care economics and organizations, Sodium Sulfate Cotransporter, Symporters/genetics, Multidisciplinary, Symporters, Sulfates, General Chemistry, equipment and supplies, Intervertebral Disc Degeneration/genetics, Intervertebral Disc Displacement/genetics, Sulfates/metabolism, population characteristics, human activities, Intervertebral Disc Displacement, Genome-Wide Association Study
Abstract: Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes.
Published: 2022
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30. Increased levels of microRNA ‐320 in blood serum and plasma is associated with imminent and advanced lung cancer

Author: Nøst, Therese Haugdahl, primary, Skogholt, Anne Heidi, additional, Urbarova, Ilona, additional, Mjelle, Robin, additional, Paulsen, Erna‐Elise, additional, Dønnem, Tom, additional, Andersen, Sigve, additional, Markaki, Maria, additional, Røe, Oluf Dimitri, additional, Johansson, Mikael, additional, Johansson, Mattias, additional, Grønberg, Bjørn Henning, additional, Sandanger, Torkjel Manning, additional, and Sætrom, Pål, additional
Published: 2022
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31. Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independently of body mass index

Author: Hartley, April, Sanderson, Eleanor, Granell, Raquel, Paternoster, Lavinia, Zheng, Jie, Smith, George Davey, Southam, Lorraine, Hatzikotoulas, Konstantinos, Boer, Cindy G., Van Meurs, Joyce, Zeggini, Eleftheria, Gregson, Celia L., Tobias, Jon H., Stefánsdóttir, Lilja, Zhang, Yanfei, De Almeida, Rodrigo Coutinho, Wu, Tian T., Teder-Laving, Maris, Skogholt, Anne Heidi, Terao, Chikashi, Zengini, Eleni, Alexiadis, George, Barysenka, Andrei, Bjornsdottir, Gyda, Gabrielsen, Maiken E., Gilly, Arthur, Ingvarsson, Thorvaldur, Johnsen, Marianne B., Jonsson, Helgi, Kloppenburg, Margreet G., Luetge, Almut, Mägi, Reedik, Mangino, Massimo, Nelissen, Rob R.G.H.H., Shivakumar, Manu, Steinberg, Julia, Takuwa, Hiroshi, Thomas, Laurent, Tuerlings, Margo, Babis, George, Cheung, Jason Pui Yin, Samartzis, Dino, Lietman, Steve A., Slagboom, P. Eline, Stefansson, Kari, Uitterlinden, André G., Winsvold, Bendik, Zwart, John Anker, Sham, Pak Chung, Thorleifsson, Gudmar, Gaunt, Tom R., Morris, Andrew P., Valdes, Ana M., Tsezou, Aspasia, Cheah, Kathryn S.E., Ikegawa, Shiro, Hveem, Kristian, Esko, Tõnu, Wilkinson, J. Mark, Meulenbelt, Ingrid, Michael Lee, Ming Ta, Styrkársdóttir, Unnur, and Internal Medicine
Subjects: Oncology, musculoskeletal diseases, medicine.medical_specialty, UK Biobank, Epidemiology, body mass index, Osteoarthritis, Polymorphism, Single Nucleotide, Genetic correlation, Body Mass Index, Mendelian Randomization, Uk Biobank, Bone Mineral Density, Bone Density, Internal medicine, Mendelian randomization, medicine, Humans, Allele, Risk factor, Bone mineral, business.industry, General Medicine, Mendelian Randomization Analysis, Osteoarthritis, Knee, medicine.disease, Causality, Observational study, business, bone mineral density, Body mass index, Genome-Wide Association Study
Abstract: Objectives Observational analyses suggest that high bone mineral density (BMD) is a risk factor for osteoarthritis (OA); it is unclear whether this represents a causal effect or shared aetiology and whether these relationships are body mass index (BMI)-independent. We performed bidirectional Mendelian randomization (MR) to uncover the causal pathways between BMD, BMI and OA. Methods One-sample (1S)MR estimates were generated by two-stage least-squares regression. Unweighted allele scores instrumented each exposure. Two-sample (2S)MR estimates were generated using inverse-variance weighted random-effects meta-analysis. Multivariable MR (MVMR), including BMD and BMI instruments in the same model, determined the BMI-independent causal pathway from BMD to OA. Latent causal variable (LCV) analysis, using weight-adjusted femoral neck (FN)–BMD and hip/knee OA summary statistics, determined whether genetic correlation explained the causal effect of BMD on OA. Results 1SMR provided strong evidence for a causal effect of BMD estimated from heel ultrasound (eBMD) on hip and knee OA {odds ratio [OR]hip = 1.28 [95% confidence interval (CI) = 1.05, 1.57], p = 0.02, ORknee = 1.40 [95% CI = 1.20, 1.63], p = 3 × 10–5, OR per standard deviation [SD] increase}. 2SMR effect sizes were consistent in direction. Results suggested that the causal pathways between eBMD and OA were bidirectional (βhip = 1.10 [95% CI = 0.36, 1.84], p = 0.003, βknee = 4.16 [95% CI = 2.74, 5.57], p = 8 × 10–9, β = SD increase per doubling in risk). MVMR identified a BMI-independent causal pathway between eBMD and hip/knee OA. LCV suggested that genetic correlation (i.e. shared genetic aetiology) did not fully explain the causal effects of BMD on hip/knee OA. Conclusions These results provide evidence for a BMI-independent causal effect of eBMD on OA. Despite evidence of bidirectional effects, the effect of BMD on OA did not appear to be fully explained by shared genetic aetiology, suggesting a direct action of bone on joint deterioration.
Published: 2022
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32. The HUNT study:A population-based cohort for genetic research

Author: Brumpton, Ben M., Graham, Sarah, Surakka, Ida, Skogholt, Anne Heidi, Løset, Mari, Fritsche, Lars G., Wolford, Brooke, Zhou, Wei, Nielsen, Jonas Bille, Holmen, Oddgeir L., Gabrielsen, Maiken E., Thomas, Laurent, Bhatta, Laxmi, Rasheed, Humaira, Zhang, He, Kang, Hyun Min, Hornsby, Whitney, Moksnes, Marta Riise, Coward, Eivind, Melbye, Mads, Giskeødegård, Guro F., Fenstad, Jørn, Krokstad, Steinar, Næss, Marit, Langhammer, Arnulf, Boehnke, Michael, Abecasis, Gonçalo R., Åsvold, Bjørn Olav, Hveem, Kristian, Willer, Cristen J., Brumpton, Ben M., Graham, Sarah, Surakka, Ida, Skogholt, Anne Heidi, Løset, Mari, Fritsche, Lars G., Wolford, Brooke, Zhou, Wei, Nielsen, Jonas Bille, Holmen, Oddgeir L., Gabrielsen, Maiken E., Thomas, Laurent, Bhatta, Laxmi, Rasheed, Humaira, Zhang, He, Kang, Hyun Min, Hornsby, Whitney, Moksnes, Marta Riise, Coward, Eivind, Melbye, Mads, Giskeødegård, Guro F., Fenstad, Jørn, Krokstad, Steinar, Næss, Marit, Langhammer, Arnulf, Boehnke, Michael, Abecasis, Gonçalo R., Åsvold, Bjørn Olav, Hveem, Kristian, and Willer, Cristen J.
Abstract: The Trøndelag Health Study (HUNT) is a population-based cohort of ∼229,000 individuals recruited in four waves beginning in 1984 in Trøndelag County, Norway. Approximately 88,000 of these individuals have available genetic data from array genotyping. HUNT participants were recruited during four community-based recruitment waves and provided information on health-related behaviors, self-reported diagnoses, family history of disease, and underwent physical examinations. Linkage via the Norwegian personal identification number integrates digitized health care information from doctor visits and national health registries including death, cancer and prescription registries. Genome-wide association studies of HUNT participants have provided insights into the mechanism of cardiovascular, metabolic, osteoporotic, and liver-related diseases, among others. Unique features of this cohort that facilitate research include nearly 40 years of longitudinal follow-up in a motivated and well-educated population, family data, comprehensive phenotyping, and broad availability of DNA, RNA, urine, fecal, plasma, and serum samples.
Published: 2022

33. Genome-wide risk prediction of common diseases across ancestries in one million people

Author: Mars, Nina, Kerminen, Sini, Feng, Yen-Chen A., Kanai, Masahiro, Läll, Kristi, Thomas, Laurent F., Skogholt, Anne Heidi, della Briotta Parolo, Pietro, Neale, Benjamin M., Smoller, Jordan W., Gabrielsen, Maiken E., Hveem, Kristian, Mägi, Reedik, Matsuda, Koichi, Okada, Yukinori, Pirinen, Matti, Palotie, Aarno, Ganna, Andrea, Martin, Alicia R., and Ripatti, Samuli
Published: 2022
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34. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

Author: THIBORD, Florian, primary, Klarin, Derek, additional, Brody, Jennifer A, additional, Chen, Ming-Huei, additional, Levin, Michael G, additional, Chasman, Daniel I, additional, Goode, Ellen L, additional, Hveem, Kristian, additional, Teder-Laving, Maris, additional, Martinez-Perez, Angel, additional, Aissi, Dylan, additional, Daian-Bacq, Delphine, additional, Ito, Kaoru, additional, Natarajan, Pradeep, additional, Lutsey, Pamela L, additional, Nadkarni, Girish N, additional, Cuellar-Partida, Gabriel, additional, Wolford, Brooke N, additional, Pattee, Jack W, additional, Kooperberg, Charles, additional, Braekkan, Sigrid K., additional, Li-Gao, Ruifang, additional, Saut, Noemie, additional, Sept, Corriene, additional, Germain, Marine, additional, Judy, Renae L, additional, Wiggins, Kerri L, additional, Ko, Darae, additional, O'Donnell, Christopher, additional, Taylor, Kent D, additional, Giulianini, Franco, additional, De Andrade, Mariza, additional, Nost, Therese H, additional, Boland, Anne, additional, Empana, Jean-Philippe, additional, Koyama, Satoshi, additional, Gilliland, Thomas, additional, Do, Ron, additional, Wang, Xin, additional, Zhou, Wei, additional, Soria, Jose Manuel, additional, Souto, Juan Carlos, additional, Pankratz, Nathan, additional, Haessler, Jeffery, additional, Hindberg, Kristian, additional, Rosendaal, Frits R, additional, Turman, Constance, additional, Olaso, Robert, additional, Kember, Rachel L, additional, Bartz, Traci M, additional, Lynch, Julie A, additional, Heckbert, Susan R, additional, Armasu, Sebastian M, additional, Brumpton, Ben, additional, Smadja, David M, additional, Jouven, Xavier, additional, Komuro, Issei, additional, Clapham, Katharine, additional, Loos, Ruth J.F, additional, Willer, Cristen, additional, Sabater-Lleal, Maria, additional, Pankow, James S, additional, Reiner, Alexander P, additional, Morelli, Vania M., additional, Ridker, Paul M, additional, van Hylckama Vlieg, Astrid, additional, Deleuze, Jean-Francois, additional, Kraft, Peter, additional, Rader, Daniel J, additional, McKnight, Barbara, additional, Lee, Kyung Min, additional, Psaty, Bruce M, additional, Skogholt, Anne Heidi, additional, Emmerich, Joseph, additional, Suchon, Pierre, additional, Rich, Stephen S, additional, Vy, Ha My T, additional, Tang, Weihong, additional, Jackson, Rebecca D, additional, Hansen, John-Bjarne, additional, Morange, Pierre-Emmanuel, additional, Kabrhel, Christopher, additional, Tregouet, David-Alexandre, additional, Damrauer, Scott, additional, Johnson, Andrew D, additional, and Smith, Nicholas L, additional
Published: 2022
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35. The HUNT Study: a population-based cohort for genetic research

Author: Brumpton, Ben M., primary, Graham, Sarah, additional, Surakka, Ida, additional, Skogholt, Anne Heidi, additional, Løset, Mari, additional, Fritsche, Lars G., additional, Wolford, Brooke, additional, Zhou, Wei, additional, Nielsen, Jonas Bille, additional, Holmen, Oddgeir L., additional, Gabrielsen, Maiken E., additional, Thomas, Laurent, additional, Bhatta, Laxmi, additional, Rasheed, Humaira, additional, Zhang, He, additional, Kang, Hyun Min, additional, Hornsby, Whitney, additional, Moksnes, Marta R., additional, Coward, Eivind, additional, Melbye, Mads, additional, Giskeødegård, Guro F., additional, Fenstad, Jørn, additional, Krokstad, Steinar, additional, Næss, Marit, additional, Langhammer, Arnulf, additional, Boehnke, Michael, additional, Abecasis, Gonçalo R., additional, Åsvold, Bjørn Olav, additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
Published: 2021
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36. Genome-Wide Association Study of 2,093 Cases With Idiopathic Polyneuropathy and 445,256 Controls Identifies First Susceptibility Loci

Author: Winsvold, Bendik S., primary, Kitsos, Ioannis, additional, Thomas, Laurent F., additional, Skogholt, Anne Heidi, additional, Gabrielsen, Maiken E., additional, Zwart, John-Anker, additional, and Nilsen, Kristian Bernhard, additional
Published: 2021
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37. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Author: Boer, Cindy G., Hatzikotoulas, Konstantinos, Southam, Lorraine, Stefánsdóttir, Lilja, Zhang, Yanfei, Coutinho de Almeida, Rodrigo, Wu, Tian T., Zheng, Jie, Hartley, April, Teder-Laving, Maris, Skogholt, Anne Heidi, Terao, Chikashi, Zengini, Eleni, Alexiadis, George, Barysenka, Andrei, Bjornsdottir, Gyda, Gabrielsen, Maiken E., Gilly, Arthur, Ingvarsson, Thorvaldur, Johnsen, Marianne B., Jonsson, Helgi, Kloppenburg, Margreet, Luetge, Almut, Lund, Sigrun H., Mägi, Reedik, Mangino, Massimo, Nelissen, Rob R.G.H.H., Shivakumar, Manu, Steinberg, Julia, Takuwa, Hiroshi, Thomas, Laurent F., Tuerlings, Margo, Babis, George C., Cheung, Jason Pui Yin, Kang, Jae Hee, Kraft, Peter, Lietman, Steven A., Samartzis, Dino, Slagboom, P. Eline, Stefansson, Kari, Thorsteinsdottir, Unnur, Tobias, Jonathan H., Uitterlinden, André G., Winsvold, Bendik, Zwart, John-Anker, Davey Smith, George, Sham, Pak Chung, Thorleifsson, Gudmar, Gaunt, Tom R., Morris, Andrew P., Valdes, Ana M., Tsezou, Aspasia, Cheah, Kathryn S.E., Ikegawa, Shiro, Hveem, Kristian, Esko, Tõnu, Wilkinson, J. Mark, Meulenbelt, Ingrid, Lee, Ming Ta Michael, van Meurs, Joyce B.J., Styrkársdóttir, Unnur, and Zeggini, Eleftheria
Published: 2021
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38. Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

Author: Roychowdhury, Tanmoy, primary, Lu, Haocheng, additional, Hornsby, Whitney E., additional, Crone, Bradley, additional, Wang, Gao T., additional, Guo, Dong-chuan, additional, Sendamarai, Anoop K., additional, Devineni, Poornima, additional, Lin, Maoxuan, additional, Zhou, Wei, additional, Graham, Sarah E., additional, Wolford, Brooke N., additional, Surakka, Ida, additional, Wang, Zhenguo, additional, Chang, Lin, additional, Zhang, Jifeng, additional, Mathis, Michael, additional, Brummett, Chad M., additional, Melendez, Tori L., additional, Shea, Michael J., additional, Kim, Karen Meekyong, additional, Deeb, G. Michael, additional, Patel, Himanshu J., additional, Eliason, Jonathan, additional, Eagle, Kim A., additional, Yang, Bo, additional, Ganesh, Santhi K., additional, Brumpton, Ben, additional, Åsvold, Bjørn Olav, additional, Skogholt, Anne Heidi, additional, Hveem, Kristian, additional, Pyarajan, Saiju, additional, Klarin, Derek, additional, Tsao, Philip S., additional, Damrauer, Scott M., additional, Leal, Suzanne M., additional, Milewicz, Dianna M., additional, Chen, Y. Eugene, additional, Garcia-Barrio, Minerva T., additional, and Willer, Cristen J., additional
Published: 2021
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39. BioMedData Deliverable D2.1 - Report on data management plan needs/gaps

Author: Bianchini, Federico, Birkeland, Even, Bösl, Korbinian, Gade, Alexandra, Holmen, Oddgeir Lingaas, Hu, Xian, Johaadien, Rukaya, Košút, Matúš, Rothweiler, Ulli, Skogholt, Anne Heidi, Sjøbakk, Torill Eidhammer, Valen, Ragnhild, Åberg, Espen, and Åsberg, Signe
Subjects: Research Infrastructure, Life Sciences, Data Management Plan, DMP, gap analysis report
Abstract: The BioMedData project was established in 2020 to connect the largest research infrastructures within the Life Sciences in Norway with the scope of improving their data management practices, aiming at the production of findable, accessible, interoperable and reusable (FAIR) data. This report marks the conclusion of the first phase within the project, aimed at assessing the data management routines at these infrastructures and the gap with respect to the FAIR data principles. This study is supported by a questionnaire, compiled by all the infrastructures involved, covering international requirements (Science Europe, Horizon2020) as well as the FAIR data principles. The investigation revealed a lack of internationally recognised metadata standards and repositories within specific domains. In other cases, the international metadata standards lack attributes representing provenance information of steps prior to data generation. On top of this, the main responsibility for data management implementation is found to often lie with individual researchers and not infrastructures. A more systematic organisation of data management duties and associated budgeting by the research projects would allow the infrastructures to operate a cost recovering support model., Funded by the Norwegian Research Council as Forskningsinfrastruktur 295932
Published: 2021
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40. Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools

Author: Bahrami, Shahram, Hindley, Guy Frederick Lanyon, Winsvold, Bendik K S, O'Connell, Kevin S, Frei, Oleksandr, Shadrin, Alexey, Cheng, Weiqiu, Bettella, Francesco, Rødevand, Linn, Ødegaard, Ketil Joachim, Fan, Chun C, Pirinen, Matti J, Hautakangas, Heidi M, Martinsen, Amy, Skogholt, Anne Heidi, Brumpton, Ben Michael, Willer, Cristen J, Tronvik, Erling Andreas, Kristoffersen, Espen Saxhaug, Zwart, John Anker Henrik, Nielsen, Jonas Bille, Hagen, Knut, Nilsen, Kristian Bernhard, Hveem, Kristian, Stovner, Lars Jacob, Fritsche, Lars, Thomas, Laurent, Pedersen, Linda Margareth, Gabrielsen, Maiken Elvestad, Johnsen, Marianne Bakke, Lie, Marie, Holmen, Oddgeir Lingaas, Børte, Sigrid, Stensland, Synne, Zhou, Wei, Dale, Anders, Djurovic, Srdjan, Smeland, Olav Bjerkehagen, Andreassen, Ole, University of Helsinki, Department of Mathematics and Statistics, Helsinki Institute for Information Technology, Centre of Excellence in Complex Disease Genetics, Statistical and population genetics, Biostatistics Helsinki, and Institute for Molecular Medicine Finland
Subjects: False discovery rate, Multifactorial Inheritance, BIPOLAR, Migraine Disorders, PATHOPHYSIOLOGY, LOCI, Biology, Genetic correlation, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, HEADACHE, medicine, Humans, migraine, genetics, Genetic Predisposition to Disease, Bipolar disorder, GENOME-WIDE ASSOCIATION, METAANALYSIS, Depression (differential diagnoses), 030304 developmental biology, Genetic association, bipolar disorder, RISK, Genetics, 0303 health sciences, Mental Disorders, 3112 Neurosciences, DEPRESSION, medicine.disease, Phenotype, PREVALENCE, 3. Good health, schizophrenia, Migraine, Schizophrenia, Neurology (clinical), 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Migraine is three times more prevalent in people with bipolar disorder or depression. The relationship between schizophrenia and migraine is less certain although glutamatergic and serotonergic neurotransmission are implicated in both. A shared genetic basis to migraine and mental disorders has been suggested but previous studies have reported weak or non-significant genetic correlations and five shared risk loci. Using the largest samples to date and novel statistical tools, we aimed to determine the extent to which migraine’s polygenic architecture overlaps with bipolar disorder, depression and schizophrenia beyond genetic correlation, and to identify shared genetic loci. Summary statistics from genome-wide association studies were acquired from large-scale consortia for migraine (n cases = 59 674; n controls = 316 078), bipolar disorder (n cases = 20 352; n controls = 31 358), depression (n cases = 170 756; n controls = 328 443) and schizophrenia (n cases = 40 675, n controls = 64 643). We applied the bivariate causal mixture model to estimate the number of disorder-influencing variants shared between migraine and each mental disorder, and the conditional/conjunctional false discovery rate method to identify shared loci. Loci were functionally characterized to provide biological insights. Univariate MiXeR analysis revealed that migraine was substantially less polygenic (2.8 K disorder-influencing variants) compared to mental disorders (8100–12 300 disorder-influencing variants). Bivariate analysis estimated that 800 (SD = 300), 2100 (SD = 100) and 2300 (SD = 300) variants were shared between bipolar disorder, depression and schizophrenia, respectively. There was also extensive overlap with intelligence (1800, SD = 300) and educational attainment (2100, SD = 300) but not height (1000, SD = 100). We next identified 14 loci jointly associated with migraine and depression and 36 loci jointly associated with migraine and schizophrenia, with evidence of consistent genetic effects in independent samples. No loci were associated with migraine and bipolar disorder. Functional annotation mapped 37 and 298 genes to migraine and each of depression and schizophrenia, respectively, including several novel putative migraine genes such as L3MBTL2, CACNB2 and SLC9B1. Gene-set analysis identified several putative gene sets enriched with mapped genes including transmembrane transport in migraine and schizophrenia. Most migraine-influencing variants were predicted to influence depression and schizophrenia, although a minority of mental disorder-influencing variants were shared with migraine due to the difference in polygenicity. Similar overlap with other brain-related phenotypes suggests this represents a pool of ‘pleiotropic’ variants that influence vulnerability to diverse brain-related disorders and traits. We also identified specific loci shared between migraine and each of depression and schizophrenia, implicating shared molecular mechanisms and highlighting candidate migraine genes for experimental validation.
Published: 2021

41. Model-based assessment of replicability for genome-wide association meta-analysis

Author: McGuire, Daniel, Jiang, Yu, Liu, Mengzhen, Weissenkampen, J. Dylan, Eckert, Scott, Yang, Lina, Chen, Fang, Liu, MengZhen, Wedow, Robbee, Li, Yue, Brazel, David M., Datta, Gargi, Davila-Velderrain, Jose, Tian, Chao, Zhan, Xiaowei, Choquet, H. éléne, Docherty, Anna R., Faul, Jessica D., Foerster, Johanna R., Fritsche, Lars, Gabrielsen, Maiken Elvestad, Gordon, Scott D., Haessler, Jeffrey, Hottenga, Jouke-Jan, Huang, Hongyan, Jang, Seon-Kyeong, Jansen, Philip R., Ling, Yueh, Ma ̈gi, Reedik, Matoba, Nana, McMahon, George, Mulas, Antonella, Orru, Valeria, Palviainen, Teemu, Pandit, Anita, Reginsson, Gunnar W., Skogholt, Anne Heidi, Smith, Jennifer A., Taylor, Amy E., Turman, Constance, Willemsen, Gonneke, Young, Hannah, Young, Kendra A., Zajac, Gregory J. M., Zhao, Wei, Zhou, Wei, Bjornsdottir, Gyda, Boardman, Jason D., Boehnke, Michael, Boomsma, Dorret I., Chen, Chu, Cucca, Francesco, Davies, Gareth E., Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Fiorillo, Edoardo, Gillespie, Nathan A., Gudbjartsson, Daniel F., Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C., Hewitt, John K., Hickie, Ian B., Hokanson, John E., Hopfer, Christian J., Hunter, David J., Iacono, William G., Johnson, Eric O., Kamatani, Yoichiro, Kardia, Sharon L. R., Keller, Matthew C., Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S., Laakso, Markku, Lind, Penelope A., Loukola, Anu, Lutz, Sharon M., Madden, Pamela A. F., Martin, Nicholas G., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Mohlke, Karen L., Nielsen, Jonas B., Okada, Yukinori, Peters, Ulrike, Polderman, Tinca J. C., Posthuma, Danielle, Reiner, Alexander P., Rice, JP, Rimm, Eric, Rose, Richard J., Runarsdottir, Valgerdur, Stallings, Michael C., Stanˇca ́kova, Alena, Stefansson, Hreinn, Thai, Khanh K., Tindle, Hilary A., Tyrfingsson, Thorarinn, Wall, Tamara L., Weir, David R., Weisner, Constance M, Whitfield, John B., Winsvold, Bendik K S, Yin, Jie, Zuccolo, Luisa, Bierut, Laura J., Hveem, Kristian, Lee, James J., Munafo, Marcus R., Saccone, Nancy L., Willer, Cristen J, Cornelis, Marilyn C., David, Sean P., Hinds, David, Jorgenson, Eric, Kaprio, Jaakko, Stitzel, Jerry A., Stefansson, Kari, Thorgeirsson, Thorgeir E., Abecasis, Goncalo, Liu, Dajiang J., Vrieze, Scott, Berg, Arthur, Jiang, Bibo, Li, Qunhua, Technology Centre, Institute for Molecular Medicine Finland, Genetic Epidemiology, HUSLAB, Centre of Excellence in Complex Disease Genetics, Jaakko Kaprio / Principal Investigator, Department of Public Health, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, APH - Aging & Later Life, APH - Mental Health, Child and Adolescent Psychiatry / Psychology, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Complex Trait Genetics, APH - Methodology, and Clinical Developmental Psychology
Subjects: 0301 basic medicine, Genotype, Computer science, Science, General Physics and Astronomy, Genome-wide association study, Genomics, Computational biology, Genome-wide association studies, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Consistency (database systems), 0302 clinical medicine, Meta-Analysis as Topic, Replication (statistics), Genetic Association Studies, Multidisciplinary, biology, Models, Genetic, Statistics, Mamba, Computational Biology, Reproducibility of Results, General Chemistry, Replicate, biology.organism_classification, 030104 developmental biology, Phenotype, Sample size determination, Sample Size, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, 030217 neurology & neurosurgery, Imputation (genetics), Software, Algorithms, Genome-Wide Association Study
Abstract: Genome-wide association meta-analysis (GWAMA) is an effective approach to enlarge sample sizes and empower the discovery of novel associations between genotype and phenotype. Independent replication has been used as a gold-standard for validating genetic associations. However, as current GWAMA often seeks to aggregate all available datasets, it becomes impossible to find a large enough independent dataset to replicate new discoveries. Here we introduce a method, MAMBA (Meta-Analysis Model-based Assessment of replicability), for assessing the “posterior-probability-of-replicability” for identified associations by leveraging the strength and consistency of association signals between contributing studies. We demonstrate using simulations that MAMBA is more powerful and robust than existing methods, and produces more accurate genetic effects estimates. We apply MAMBA to a large-scale meta-analysis of addiction phenotypes with 1.2 million individuals. In addition to accurately identifying replicable common variant associations, MAMBA also pinpoints novel replicable rare variant associations from imputation-based GWAMA and hence greatly expands the set of analyzable variants., In genome-wide association meta-analysis, it is often difficult to find an independent dataset of sufficient size to replicate associations. Here, the authors have developed MAMBA to calculate the probability of replicability based on consistency between datasets within the meta-analysis.
Published: 2021
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42. Sex-specific survival bias and interaction modeling in coronary artery disease risk prediction

Author: Surakka, Ida, primary, Wolford, Brooke N, additional, Ritchie, Scott C, additional, Hornsby, Whitney E, additional, Sutton, Nadia R., additional, Gabrielsen, Maiken Elvenstad, additional, Skogholt, Anne Heidi, additional, Thomas, Laurent, additional, Inouye, Michael, additional, Hveem, Kristian, additional, and Willer, Cristen J, additional
Published: 2021
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43. Utility of family history in disease prediction in the era of polygenic scores

Author: Wolford, Brooke N., primary, Surakka, Ida, additional, Graham, Sarah E., additional, Nielsen, Jonas B., additional, Zhou, Wei, additional, Gabrielsen, Maiken Elvestad, additional, Skogholt, Anne Heidi, additional, Brumpton, Ben M., additional, Douville, Nicholas, additional, Hornsby, Whitney E., additional, Fritsche, Lars G., additional, Boehnke, Michael, additional, Lee, Seunggeun, additional, Kang, Hyun M., additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
Published: 2021
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44. The causal effects of serum lipids and apolipoproteins on kidney function: multivariable and bidirectional Mendelian-randomization analyses

Author: Rasheed, Humaira, primary, Zheng, Jie, additional, Rees, Jessica, additional, Sanderson, Eleanor, additional, Thomas, Laurent, additional, Richardson, Tom G, additional, Fang, Si, additional, Bekkevold, Ole-Jørgen, additional, Stovner, Endre Bakken, additional, Gabrielsen, Maiken Elvestad, additional, Skogholt, Anne Heidi, additional, Romundstad, Solfrid, additional, Brumpton, Ben, additional, Hallan, Stein, additional, Willer, Cristen, additional, Burgess, Stephen, additional, Hveem, Kristian, additional, Davey Smith, George, additional, Gaunt, Tom R, additional, and Åsvold, Bjørn Olav, additional
Published: 2021
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45. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author: Bakker, Mark K., van der Spek, Rick A.A., van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C., Alg, Varinder S., van Eijk, Kristel R., Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G., Lin, Kuang, Li, Liming, Millwood, Iona Y., Chen, Zhengming, Rouleau, Guy A., Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie L.M., Houlden, Henry, van den Berg, Leonard H., Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S., Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M., Sandvei, Marie Søfteland, Willer, Cristen J., Hveem, Kristian, Zwart, John-Anker, Verschuren, W. M. Monique, Friedrich, Christoph M., Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Martinsen, Amy E, Aamodt, Anne Hege, Skogholt, Anne Heidi, Sandset, Else Charlotte, Kristoffersen, Espen S, Ellekjaer, Hanne, Heuch, Ingrid, Nielsen, Jonas Bille, Hagen, Knut, Fritsche, Lars, Thomas, Laurent F., Pedersen, Linda, Gabrielsen, Maiken E, Vigeland, Maria Dehli, Holmen, Oddgeir, Zhou, Wei, Chen, Junshi, Chen (PI), Zhengming, Clarke, Robert, Collins, Rory, Guo, Yu, Li (PI), Liming, Liu, Depei, Lv, Jun, Peto, Richard, Walters, Robin, Avery, Daniel, Boxall, Ruth, Bennett, Derrick, Chang, Yumei, Chen, Yiping, Du, Huaidong, Gan, Wei, Gilbert, Simon, Hacker, Alex, Hill, Michael, Holmes, Michael, Iona, Andri, Kartsonaki, Christiana, Kerosi, Rene, Kong, Ling, Lancaster, Garry, Lewington, Sarah, McDonnell, John, Millwood, Iona, Nie, Qunhua, Ryder, Paul, Sansome, Sam, Schmidt-Valle, Dan, Sherliker, Paul, Sohoni, Rajani, Stevens, Becky, Turnbull, Iain, Wang, Lin, Wright, Neil, Yang, Ling, Yang, Xiaoming, Yao, Pang, Bian, Zheng, Han, Xiao, Hou, Can, Pei, Pei, Liu, Chao, Yu, Canqing, Pang, Zengchang, Gao, Ruqin, Li, Shanpeng, Wang, Shaojie, Liu, Yongmei, Du, Ranran, Cheng, Liang, Tian, Xiaocao, Zhang, Hua, Zhai, Yaoming, Ning, Feng, Sun, Xiaohui, Li, Feifei, Lv, Silu, Wang, Junzheng, Hou, Wei, Zou, Mingyuan, Yan, Shichun, Zhou, Xue, Yu, Bo, Li, Yanjie, Xu, Qinai, Kang, Quan, Guo, Ziyan, Wang, Dan, Hu, Ximin, Chen, Jinyan, Fu, Yan, Wang, Xiaohuan, Weng, Min, Guo, Zhendong, Wu, Shukuan, Li, Yilei, Li, Huimei, Wu, Ming, Zhou, Yonglin, Zhou, Jinyi, Tao, Ran, Yang, Jie, Su, Jian, liu, Fang, Zhang, Jun, Hu, Yihe, Lu, Yan, Ma, Liangcai, Tang, Aiyu, Hua, Yujie, Jin, Jianrong, Liu, Jingchao, Tang, Zhenzhu, Chen, Naying, Huang, Ying, Li, Mingqiang, Meng, Jinhuai, Pan, Rong, Jiang, Qilian, Lan, Jian, Liu, Yun, Wei, Liuping, Zhou, Liyuan, Chen, Ningyu, Wang, Ping, Meng, Fanwen, Qin Sisi Wang, Yulu, Wu, Xianping, Zhang, Ningmei, Chen, Xiaofang, Zhou, Weiwei, Luo, Guojin, Li, Jianguo, Zhong, Xunfu, Liu, Jiaqiu, Sun, Qiang, Ge, Pengfei, Ren, Xiaolan, Dong, Caixia, Zhang, Hui, Mao, Enke, Wang, Xiaoping, Wang, Tao, Zhang, Xi, Zhou, Ding Zhang, Zhou, Gang, Feng, Shixian, Chang, Ling, Fan, Lei, Gao, Yulian, He, Tianyou, Sun, Huarong, He, Pan, Hu, Chen, Zhang, Xukui, Wu, Huifang, Yu, Min, Hu, Ruying, Wang, Hao, Gong, Weiwei, Wang, Meng, Xie, Kaixu, Chen, Lingli, Pan, Dongxia, Gu, Qijun, Huang, Yuelong, Chen, Biyun, Yin, Li, Liu, Huilin, Fu, Zhongxi, Xu, Qiaohua, Xu, Xin, Zhang, Hao, Long, Huajun, Zhang, Libo, Nagai, Akiko, Muto, Kaori, Hirata, Makoto, Morisaki, Takayuki, Yamashita, Yasushi, Kamatani, Yoichiro, Kambara, Yoko, Murakami, Yoshinori, Masumoto, Akihide, Nagayama, Satoshi, Miki, Yoshio, Yoshimori, Kozo, Fujioka, Tomoaki, Takata, Ryo, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Minami, Shiro, Yamaguchi, Hiroki, Koretsune, Yukihiro, Nishizawa, Yasuko, Kodama, Ken, Kutsumi, Hiromu, Suzuki, Takao, Sinozaki, Nobuaki, Murayama, Shigeo, Furukawa, Yoichi, Yamanashi, Yuji, Papagiannaki, Chrisanthi, Piotin, Michel, Trystram, Denis, Edjlali-Goujon, Myriam, Boulouis, Grégoire, Rodriguez, Christine, Hassen, Waghi Ben, Saleme, Suzanna, Mounayer, Charbel, Rouchaud, Aymeric, Levrier, Olivier, Aguettaz, Pierre, Combaz, Xavier, Pasco, Anne, l’Allinec, Vincent, Bintner, Marc, Molho, Marc, Pascale, Gauthier, Chivot, Cyril, Costalat, Vincent, Darganzil, Cyril, Bonafé, Alain, Januel, Anne Christine, Michelozzi, Caterina, Cognard, Christophe, Bonneville, Fabrice, Tall, Philippe, Darcourt, Jean, Biondi, Alessandra, Iosif, Cristina, Ferre, Jean Christophe, Gauvrit, Jean Yves, Eugene, François, Raoult, Hélène, Gentric, Jean Christophe, Ognard, Julien, Anxionnat, René, Gory, Benjamin, Bracard, Serge, Derelle, Anne Laure, Tonnelet, Romain, Spelle, Laurent, Ikka, Léon, Ozanne, Augustin, Gallas, Sophie, Caroff, Jildaz, Achour, Nidal Ben, Moret, Jacques, Chabert, Emmanuel, Berge, Jérôme, Marnat, Gaultier, Barreau, Xavier, Gariel, Florent, Clarencon, Frédéric, Aggour, Mohammed, Ricolfi, Frédéric, Chavent, Adrien, Thouant, Pierre, Lebidinsky, Pablo, Lemogne, Brivael, Herbreteau, Denis, Bibi, Richard, Janot, Kevin, Pierot, Laurent, Soize, Sébastien, Labeyrie, Marc Antoine, Vandendries, Christophe, Kazemi, Appoline, Leclerc, Xavier, Pruvo, Jean Pierre, Bricout, Nicolas, Velasco, Stéphane, Boucebci, Samy, Lemmens, Robin, Pandolfo, Massimo, Bodenant, Marie, Louillet, Fabien, Mas, Jean-Louis, Deltour, Sandrine, Leder, Sara, Léger, Anne, Canaple, Sandrine, Godefroy, Olivier, Giroud, Maurice, Jacquin, Agnès, Moulin, Thierry, Vuillier, Fabrice, Tzourio, Christophe, Santos, Michael Dos, Malik, Rainer, Hausser, Ingrid, Thomas-Feles, Constanze, Weber, Ralf, Grond-Ginsbach, Caspar, Hacke, Werner, Giossi, Alessia, Volonghi, Irene, Costa, Paolo, del Zotto, Elisabetta, Morotti, Andrea, Poli, Loris, Muiesan, Maria Lorenza, Salvetti, Massimo, Rosei, Enrico Agabiti, Lanfranconi, Silvia, Baron, Pierluigi, Ferrarese, Carlo, Susani, Emanuela, Giacalone, Giacomo, Paolucci, Stefano, Palmirotta, Raffaele, Guadagni, Fiorella, Paciaroni, Maurizio, Ballabio, Elena, Parati, Eugenio A., Fluri, Felix, Hatz, Florian, Gisler, Dominique, Amort, Margareth, Bevan, Steve, James, Tom, Olsson, Sandra, Holmegaard, Lukas, Altintas, Ayse, Martin, Juan José, Kittner, Steven, Mitchell, Braxton, Stine, Colin, O’Connell, Jeff, Dueker, Nicole, Koudstaal, Peter J., de Lau, Lonneke M.L., Hofman, Albert, Verhaaren, Benjamin F, Uitterlinden, Andre G, Montaner, Joan, Mendioroz, Maite, Yadav, Sunaina, Khan, Muhammad Saleem, Wilder, Michael, van Dijk, Ewoud, Maaijwee, Noortje, Rutten-Jacobs, Loes, Kramer, Jamie, Malik, Shaneela, Brott, Thomas G, Brown, Robert D, Singleton, Andrew, Hardy, John, Rich, Stephen S, Tanislav, Christian, Jungehülsing, Jan, Werring, David, Alg, Varinder, Hostettler, Isabel, Bonner, Stephen, Walsh, Daniel, Bulters, Diederik, Kitchen, Neil, Brown, Martin, Grieve, Joan, Roberts, Gareth, Jones, Timothy, Critchley, Giles, Sharma, Pankaj, Nelson, Richard, Whitfield, Peter, Ross, Stuart, Patel, Hiren, Eldridge, Paul, Saastamoinen, Kari, Patel, Umang, Lawrance, Enas, Vandabona, Subha, Mendelow, David, Teal, Rachel, Warner, Orlando, Kirkpatrick, Peter, Seshadri, Sudha, Kilarski, Laura, Hyacinth, Hyacinth I, Oliveira, Jamary, Marini, Sandro, Nyquist, Paul, Lewis, Cathryn, Norrving, Bo, Smith, Gustav, Rosand, Jonathan, Biffi, Alessandro, Kourkoulis, Christina, Anderson, Chris, Giese, Anne-Katrin, Bang, Oh Young, Chung, Jong-Won, Kim, Gyeong-Moon, Zhuang, Qishuai, Sheu, Wayne, Smalley, June, Howson, Joanna, Granata, Alessandra, Markus, Hugh, Wardlaw, Joanna, Cole, John, Thalamuthu, Anbupalam, Hopewell, Jemma, Worrall, Bradford, Bis, Josh, Tirschwell, David, Reiner, Alex, Dhar, Raj, Lee, Jin-Moo, Mortenson, Janne, Wassertheil-Smoller, Sylvia, Prasad, Kameshwar, Fisher, Mark, Traenka, Christopher, Wang, Xingwu, Wang, Yongjun, Rouanet, Francois, Sibon, Igor, Sarnowski, Chloé, Maillard, Pauline, Aparicio, Hugo Javier, Dupuis, Josee, Yang, Qiong, Luvizutto, Gustavo, Chasman, Daniel, Rexrode, Kathryn, Harriot, Andrea, Phuah, Chia-Ling, Santo, Gustavo, Gerard, Jen, Liu, Guiyou, Aaron, Sanjith, Christudass, Christhunesa S., Salomi, BSB, Sanghera, Dharambir, Boehme, Amelia, Elkind, Mitchell, Gretarsdottir, Solveig, Lange, Leslie, Rost, Natalia, James, Michael, Stewart, Jill, Goldstein, Larry, Waddy, Salina, Vojinovic, Dina, Ikram, Arfan, Thijs, Vincent, Parati, Eugenio, Boncoraglio, Giorgio, Kooperberg, Charles, Abboud, Sherrine, Zand, Ramin, Bijlenga, Philippe, Selim, Magdy, Happola, Olli, Strbian, Daniel, Tomppo, Liisa, Pathak, Abhishek, Pfeiffer, Dorothea, Aires, de Buenos, de Carvalho, Joao Jose Freitas, Ribeiro, Priscila, Torres, Nuria, Barboza, Miguel, Plomaritoglou, Androniki, Bjorkegren, Johan, Chan, Yu-Feng Yvonne, Gudnason, Villi, Jimenez-Conde, Jordi, Soriano, Carolina, Roquer, Jaume, Bentley, Paul, Tournier-Lasserve, Elisabeth, Dufouil, Carole, Debette, Stephanie, Mishra, Aniket, Wee, Lawrence, Siddiqi, Saima, Wu, Jer-Yuarn, Ko, Tai-Ming, Bione, Silvia, Jood, Katarina, Tatlisumak, Turgut, Arauz, Antonio, Korostynski, Michal, Launer, Lenore, Yue, Suo, bersano, anna, Juchniewicz, Karol Józef, Mateusz, Adamski, Pera, Joanna, Wnuk, Marcin, Levi, Christopher, Gusdon, Aaron, Kostulas, Konstantinos, Maxwell, Jessye, Duering, Marco, Jagiella, Jeremiasz, Hata, Jun, Ninomiya, Toshiharu, Nguyen, Vinh, Thorarinsson, Bjorn Logi, Lee, Tsong-Hai, Rakitko, Alexandr, Dichgans, Martin, Lindgren, Arne, Wasselius, Johan, Drake, Mattias, Stenman, Martin, Ilinca, Andreea, Staals, Julie, Sadr-Nabavi, Ariane, Crawford, Katherine, Lena, Umme, Mateen, Farrah, Ay, Hakan, Wu, Ona, Schirmer, Markus, Romero, Javier, Cramer, Steve, Golland, Polina, Mueller, Bertram, Brown, Robert, Meschia, James, Ross, Owen A., Pare, Guillaume, Chong, Mike, mansour, Ossama yassin, Karaszewski, Bartosz, Enzinger, Christian, Schmidt, Reinhold, Seiler, Stephan, Pichler, Alexander, Ovbiagele, Bruce, Yamada, Yoshiji, Rundek, Tatjana, Blanton, Susan, P, John, Chern, Joseph, O'Donnell, Chris, Corriveau, Roderick, Bhattacharya, Pallab, Gwinn, Katrina, CHANDRA, BHARATENDU, Chen, Christopher, Kalaria, Raj, Koenig, Jim, Singh, Om Prakash, Olugbodi, Akintomi, Giralt, Eva, Saleheen, Danish, de Leeuw, Frank-Erik, Klijn, Karin, Olesen, Jes, Kubo, Michiaki, Spence, David, Pedersen, Annie, Olsson, Maja, Martín, Juan José, Braga, Gabriel, Xu, Huichun, Assimes, Tim, Raskurazhev, Anton, Lee, Wei Ling, Burri, Philippe, Frid, Petrea, GmbH, Heilbronn, Deng, Zhen, Habibi-koolaee, Mahdi, Vijayan, Murali, Leung, Thomas, Wong, Lawrence, Mok, Vincent, Choy, Richard, Jern, Christina, Lebedeva, Elena, Farrall, Martin, Jiayuan, Xu, Loo, Keat Wei, Rinkel, Gabriel, Magnus, Rudolf, Goncalves, Anderson, Franca, Paulo, Cendes, Iscia, Carrera, Caty, Fernandez-Cadenas, Israel, Kim, Helen, Rolfs, Arndt, Owolabi, Mayowa, Bakker, Mark, Ruigrok, Ynte, Hauer, Allard, Pulit, Sara L., Algra, Ale, van der Laan, Sander W., Macleod, Mary, Howard, George, Tiwari, Hemant, Irvin, Ryan, Albright, Karen C., Perry, Rodney, Kidwell, Chelsea, Pavlovic, Aleksandra, Sargurupremraj, Murali, Schilling, Sabrina, Pezzini, Alessandro, Abd-Allah, Foad, DeCarli, Charles, Liebeskind, David, Traylor, Matthew, Tan, Rhea, Danesh, John, Larsson, Susanna C., Rutten, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Kissela, Brett, Ibenez, Laura Garcia, Salman, Rustam, Sudlow, Cathie, McDonough, Caitrin Wheeler, Silliman, Scott, Magvanjav, Oyunbileg, van Agtmael, Tom, Walters, Matthew, Lorentzen, Erik, Stanne, Tara, Olsson, Martina, Nakagawa, Kazuma, Akinyemi, Rufus, Cotlatciuc, Ioana, O'Connell, Jeff, Sparks, Mary, Sorkin, John, Dave, Tushar, Naylor, Jill, Brown, Devin, Du, Rose, Kulik, Tobias B., Attia, John, Faber, James E, Rothwell, Peter, Márquez, Elsa Valdés, Mancuso, Michelangelo, Souza, Doralina Brum, de Silva, Ranil, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Illoh, Kachikwu, Milewicz, Dianna, Majersik, Jennifer, DeHavenon, Adam, Kalani, Yashar, Alexander, Matthew, Cushman, Mary, Sale, Michele, Owens, Debra, Keene, Keith, Rich, Stephe, Psaty, Bruce, Longstreth, Will, Atadzhanov, Masharip, Wolfe, Stacey Quintero, Langefeld, Carl, Bushnell, Cheryl, Cruchaga, Carlos, Konrad, Jan, Liu, Junfeng, Sheth, Kevin, Falcone, Guido, Donahue J, Kathleen, Jones, Gregory T., Bown, Matthew J., Ko, Nerissa U., Coleman, Jonathan R.I., Breen, Gerome, Zaroff, Jonathan G., Klijn, Catharina J.M., Sargurupremraj, Muralidharan, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel J.E., Worrall, Bradford B., Slowik, Agnieszka, Gaál-Paavola, Emilia I., Niemelä, Mika, Jääskeläinen, Juha E., von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P., Werring, David J., Redon, Richard, Veldink, Jan H., Ruigrok, Ynte M., Stroke, HUNT All-In, Group, China Kadoorie Biobank Collaborative, Consortium, BioBank Japan Project, Group, ICAN Study, Group, CADISP, investigators, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, (ISGC), International Stroke Genetics Consortium, Morel, Sandrine, and Bijlenga, Philippe Alexandre Pierre
Subjects: genetics [Blood Pressure], Medizin, Genome-wide association study, Blood Pressure, Disease, ddc:616.07, Bioinformatics, 616: Innere Medizin und Krankheiten, 0302 clinical medicine, Risk Factors, physiopathology [Hypertension], genetics [Genetic Predisposition to Disease], Genetic risk factor, Stroke, 0303 health sciences, Smoking, genetics [Smoking], genetics [Intracranial Aneurysm], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cerebrovascular disorder, 3. Good health, genetics [European Continental Ancestry Group], Hypertension, genetics [Polymorphism, Single Nucleotide], Subarachnoid hemorrhage, pathology [Intracranial Aneurysm], genetics [White People], Biology, Genetic correlation, pathology [Endothelial Cells], Polymorphism, Single Nucleotide, Article, White People, 03 medical and health sciences, Aneurysm, Asian People, ddc:570, Genetics, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, 030304 developmental biology, genetics [Subarachnoid Hemorrhage], genetics [Asian Continental Ancestry Group], 572: Biochemie, genetics [Asian People], pathology [Subarachnoid Hemorrhage], adverse effects [Smoking], Endothelial Cells, Subarachnoid Hemorrhage, medicine.disease, Intracranial aneurysm, Genetic architecture, ddc:616.8, Case-Control Studies, genetics [Hypertension], 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: An author correction to this article published in December 2020 is available at https://doi.org/10.1038/s41588-020-00760-4. Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.
Published: 2021
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46. Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease

Author: Zheng, Tenghao Ellinghaus, David Juzenas, Simonas Cossais, Francois Burmeister, Greta Mayr, Gabriele Jorgensen, Isabella Friis Teder-Laving, Maris Skogholt, Anne Heidi and Chen, Sisi Strege, Peter R. Ito, Go Banasik, Karina and Becker, Thomas Bokelmann, Frank Brunak, Soren Buch, Stephan and Clausnitzer, Hartmut Datz, Christian Degenhardt, Frauke and Doniec, Marek Erikstrup, Christian Esko, Tonu Forster, Michael Frey, Norbert Fritsche, Lars G. Gabrielsen, Maiken Elvestad Grassle, Tobias Gsur, Andrea Gross, Justus and Hampe, Jochen Hendricks, Alexander Hinz, Sebastian Hveem, Kristian Jongen, Johannes Junker, Ralf Karlsen, Tom Hemming and Hemmrich-Stanisak, Georg Kruis, Wolfgang Kupcinskas, Juozas and Laubert, Tilman Rosenstiel, Philip C. Roecken, Christoph and Laudes, Matthias Leendertz, Fabian H. Lieb, Wolfgang and Limperger, Verena Margetis, Nikolaos Matz-Rensing, Kerstin and Nemeth, Christopher Georg Ness-Jensen, Eivind Nowak-Gottl, Ulrike Pandit, Anita Pedersen, Ole Birger Peleikis, Hans Gunter Peuker, Kenneth Rodriguez, Cristina Leal Ruehlemann, Malte Christoph Schniewind, Bodo Schulzky, Martin and Skieceviciene, Jurgita Tepel, Jurgen Thomas, Laurent and Uellendahl-Werth, Florian Ullum, Henrik Vogel, Ilka Volzke, Henry von Fersen, Lorenzo von Schonfels, Witigo Vanderwerff, Brett Wilking, Julia Wittig, Michael Zeissig, Sebastian and Zobel, Myrko Zawistowski, Matthew Vacic, Vladimir Sazonova, Olga Noblin, Elizabeth S. Farrugia, Gianrico Beyder, Arthur and Wedel, Thilo Kahlke, Volker Schafmayer, Clemens D'Amato, Mauro Franke, Andre DBDS Consortium The 23andMe Res Team
Subjects: inorganic chemicals, integumentary system, polycyclic compounds, heterocyclic compounds
Abstract: Objective Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. Design We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. Results We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. Conclusion HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.
Published: 2021

47. Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease

Author: Zheng, Tenghao, Ellinghaus, David, Juzenas, Simonas, Cossais, Francois, Burmeister, Greta, Mayr, Gabriele, Jorgensen, Isabella Friis, Teder-Laving, Maris, Skogholt, Anne Heidi, Chen, Sisi, Strege, Peter R., Ito, Go, Banasik, Karina, Becker, Thomas, Bokelmann, Frank, Brunak, Soren, Buch, Stephan, Clausnitzer, Hartmut, Datz, Christian, Degenhardt, Frauke, Doniec, Marek, Erikstrup, Christian, Esko, Tonu, Forster, Michael, Frey, Norbert, Fritsche, Lars G., Gabrielsen, Maiken Elvestad, Grassle, Tobias, Gsur, Andrea, Gross, Justus, Hampe, Jochen, Hendricks, Alexander, Hinz, Sebastian, Hveem, Kristian, Jongen, Johannes, Junker, Ralf, Karlsen, Tom Hemming, Hemmrich-Stanisak, Georg, Kruis, Wolfgang, Kupcinskas, Juozas, Laubert, Tilman, Rosenstiel, Philip C., Roecken, Christoph, Laudes, Matthias, Leendertz, Fabian H., Lieb, Wolfgang, Limperger, Verena, Margetis, Nikolaos, Matz-Rensing, Kerstin, Nemeth, Christopher Georg, Ness-Jensen, Eivind, Nowak-Gottl, Ulrike, Pandit, Anita, Pedersen, Ole Birger, Peleikis, Hans Gunter, Peuker, Kenneth, Rodriguez, Cristina Leal, Ruehlemann, Malte Christoph, Schniewind, Bodo, Schulzky, Martin, Skieceviciene, Jurgita, Tepel, Jurgen, Thomas, Laurent, Uellendahl-Werth, Florian, Ullum, Henrik, Vogel, Ilka, Volzke, Henry, von Fersen, Lorenzo, von Schonfels, Witigo, Vanderwerff, Brett, Wilking, Julia, Wittig, Michael, Zeissig, Sebastian, Zobel, Myrko, Zawistowski, Matthew, Vacic, Vladimir, Sazonova, Olga, Noblin, Elizabeth S., Farrugia, Gianrico, Beyder, Arthur, Wedel, Thilo, Kahlke, Volker, Schafmayer, Clemens, D'Amato, Mauro, Franke, Andre, Zheng, Tenghao, Ellinghaus, David, Juzenas, Simonas, Cossais, Francois, Burmeister, Greta, Mayr, Gabriele, Jorgensen, Isabella Friis, Teder-Laving, Maris, Skogholt, Anne Heidi, Chen, Sisi, Strege, Peter R., Ito, Go, Banasik, Karina, Becker, Thomas, Bokelmann, Frank, Brunak, Soren, Buch, Stephan, Clausnitzer, Hartmut, Datz, Christian, Degenhardt, Frauke, Doniec, Marek, Erikstrup, Christian, Esko, Tonu, Forster, Michael, Frey, Norbert, Fritsche, Lars G., Gabrielsen, Maiken Elvestad, Grassle, Tobias, Gsur, Andrea, Gross, Justus, Hampe, Jochen, Hendricks, Alexander, Hinz, Sebastian, Hveem, Kristian, Jongen, Johannes, Junker, Ralf, Karlsen, Tom Hemming, Hemmrich-Stanisak, Georg, Kruis, Wolfgang, Kupcinskas, Juozas, Laubert, Tilman, Rosenstiel, Philip C., Roecken, Christoph, Laudes, Matthias, Leendertz, Fabian H., Lieb, Wolfgang, Limperger, Verena, Margetis, Nikolaos, Matz-Rensing, Kerstin, Nemeth, Christopher Georg, Ness-Jensen, Eivind, Nowak-Gottl, Ulrike, Pandit, Anita, Pedersen, Ole Birger, Peleikis, Hans Gunter, Peuker, Kenneth, Rodriguez, Cristina Leal, Ruehlemann, Malte Christoph, Schniewind, Bodo, Schulzky, Martin, Skieceviciene, Jurgita, Tepel, Jurgen, Thomas, Laurent, Uellendahl-Werth, Florian, Ullum, Henrik, Vogel, Ilka, Volzke, Henry, von Fersen, Lorenzo, von Schonfels, Witigo, Vanderwerff, Brett, Wilking, Julia, Wittig, Michael, Zeissig, Sebastian, Zobel, Myrko, Zawistowski, Matthew, Vacic, Vladimir, Sazonova, Olga, Noblin, Elizabeth S., Farrugia, Gianrico, Beyder, Arthur, Wedel, Thilo, Kahlke, Volker, Schafmayer, Clemens, D'Amato, Mauro, and Franke, Andre
Abstract: Objective Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. Design We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. Results We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. Conclusion HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.
Published: 2021

48. MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Author: Surakka, Ida, Fritsche, Lars, Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben Michael, Nielsen, Jonas B., Gabrielsen, Maiken Elvestad, Skogholt, Anne Heidi, Wolford, Brooke N., Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn Olav, Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel F., Stefansson, Kari, Baras, Aris, Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Lotta, Luca A., Maxwell, Evan K., Mitnaul, Lyndon J., Overton, John D., Reid, Jeffrey G., Ferreira, Manuel Allen Revez, Salerno, William, Sharma, Deepika, Shuldiner, Alan R., Staples, Jeffrey C., Yadav, Ashish, Abecasis, Goncalo R., Hveem, Kristian, and Willer, Cristen J.
Subjects: 0301 basic medicine, Oncology, Male, Osteoporosis, Iceland, General Physics and Astronomy, Genome-wide association study, Genome-wide association studies, Cohort Studies, Fractures, Bone, 0302 clinical medicine, Gene Frequency, Bone Density, lcsh:Science, Bone mineral, Aged, 80 and over, Extracellular Matrix Proteins, Multidisciplinary, Middle Aged, Cohort, Female, musculoskeletal diseases, Adult, medicine.medical_specialty, Science, Predictive medicine, 030209 endocrinology & metabolism, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, Genetic association, Genetic association study, Aged, Glycoproteins, business.industry, Genome, Human, Computational Biology, General Chemistry, medicine.disease, Phosphoproteins, Computational biology and bioinformatics, Minor allele frequency, 030104 developmental biology, MEPE, lcsh:Q, business, Imputation (genetics)
Abstract: A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the discovery cohort for loss-of-function (LoF) mutations by sequencing a subset of the Nord-Trøndelag Health Study, followed by imputation in the remaining sample (N = 19,705), and identified ten known BMD loci. However, one previously unreported variant, LoF mutation in MEPE, p.(Lys70IlefsTer26, minor allele frequency [MAF] = 0.8%), was associated with decreased ultradistal forearm BMD (P-value = 2.1 × 10−18), and increased osteoporosis (P-value = 4.2 × 10−5) and fracture risk (P-value = 1.6 × 10−5). The MEPE LoF association with BMD and fractures was further evaluated in 279,435 UK (MAF = 0.05%, heel bone estimated BMD P-value = 1.2 × 10−16, any fracture P-value = 0.05) and 375,984 Icelandic samples (MAF = 0.03%, arm BMD P-value = 0.12, forearm fracture P-value = 0.005). Screening for the MEPE LoF mutations before adulthood could potentially prevent osteoporosis and fractures due to the lifelong effect on BMD observed in the study. A key implication for precision medicine is that high-impact functional variants missing from the publicly available cosmopolitan panels could be clinically more relevant than polygenic risk scores., Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank.
Published: 2020

49. CEP906835 Supplemental table 1 - Supplemental material for Mitochondrial genome-wide association study of migraine – the HUNT Study

Author: Børte, Sigrid, John-Anker Zwart, Skogholt, Anne Heidi, Gabrielsen, Maiken Elvestad, Thomas, Laurent F, Fritsche, Lars G, Surakka, Ida, Nielsen, Jonas B, Zhou, Wei, Wolford, Brooke N, Vigeland, Magnus D, Hagen, Knut, Kristoffersen, Espen Saxhaug, Nyholt, Dale R, Chasman, Daniel I, Brumpton, Ben M, Cristen J Willer, and Winsvold, Bendik S
Subjects: FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract: Supplemental material, CEP906835 Supplemental table 1 for Mitochondrial genome-wide association study of migraine – the HUNT Study by Sigrid Børte, John-Anker Zwart, Anne Heidi Skogholt, Maiken Elvestad Gabrielsen, Laurent F Thomas, Lars G Fritsche, Ida Surakka, Jonas B Nielsen, Wei Zhou, Brooke N Wolford, Magnus D Vigeland, Knut Hagen, Espen Saxhaug Kristoffersen, Dale R Nyholt, Daniel I Chasman, Ben M Brumpton, Cristen J Willer and Bendik S Winsvold in Cephalalgia
Published: 2020
Full Text: View/download PDF

50. Mitochondrial genome-wide association study of migraine - the HUNT Study

Author: Børte, Sigrid, Zwart, John-Anker, Skogholt, Anne Heidi, Gabrielsen, Maiken Elvestad, Thomas, Laurent F, Fritsche, Lars G, Surakka, Ida, Nielsen, Jonas B, Zhou, Wei, Wolford, Brooke N, Vigeland, Magnus D, Hagen, Knut, Kristoffersen, Espen Saxhaug, Nyholt, Dale R, Chasman, Daniel I, Brumpton, Ben M, Willer, Cristen J, Winsvold, Bendik S, Børte, Sigrid, Zwart, John-Anker, Skogholt, Anne Heidi, Gabrielsen, Maiken Elvestad, Thomas, Laurent F, Fritsche, Lars G, Surakka, Ida, Nielsen, Jonas B, Zhou, Wei, Wolford, Brooke N, Vigeland, Magnus D, Hagen, Knut, Kristoffersen, Espen Saxhaug, Nyholt, Dale R, Chasman, Daniel I, Brumpton, Ben M, Willer, Cristen J, and Winsvold, Bendik S
Abstract: BACKGROUND: Variation in mitochondrial DNA (mtDNA) has been indicated in migraine pathogenesis, but genetic studies to date have focused on candidate variants, with sparse findings. We aimed to perform the first mitochondrial genome-wide association study of migraine, examining both single variants and mitochondrial haplogroups.METHODS: In total, 71,860 participants from the population-based Nord-Trøndelag Health Study were genotyped. We excluded samples not passing quality control for nuclear genotypes, in addition to samples with low call rate and closely maternally related. We analysed 775 mitochondrial DNA variants in 4021 migraine cases and 14,288 headache-free controls, using logistic regression. In addition, we analysed 3831 cases and 13,584 controls who could be reliably assigned to a mitochondrial haplogroup. Lastly, we attempted to replicate previously reported mitochondrial DNA candidate variants.RESULTS: Neither of the mitochondrial variants or haplogroups were associated with migraine. In addition, none of the previously reported mtDNA candidate variants replicated in our data.CONCLUSIONS: Our findings do not support a major role of mitochondrial genetic variation in migraine pathophysiology, but a larger sample is needed to detect rare variants and future studies should also examine heteroplasmic variation, epigenetic changes and copy-number variation.
Published: 2020

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