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1. Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

Author: Howe, Laurence J, Nivard, Michel G, Morris, Tim T, Hansen, Ailin F, Rasheed, Humaira, Cho, Yoonsu, Chittoor, Geetha, Ahlskog, Rafael, Lind, Penelope A, Palviainen, Teemu, van der Zee, Matthijs D, Cheesman, Rosa, Mangino, Massimo, Wang, Yunzhang, Li, Shuai, Klaric, Lucija, Ratliff, Scott M, Bielak, Lawrence F, Nygaard, Marianne, Giannelis, Alexandros, Willoughby, Emily A, Reynolds, Chandra A, Balbona, Jared V, Andreassen, Ole A, Ask, Helga, Baras, Aris, Bauer, Christopher R, Boomsma, Dorret I, Campbell, Archie, Campbell, Harry, Chen, Zhengming, Christofidou, Paraskevi, Corfield, Elizabeth, Dahm, Christina C, Dokuru, Deepika R, Evans, Luke M, de Geus, Eco JC, Giddaluru, Sudheer, Gordon, Scott D, Harden, K Paige, Hill, W David, Hughes, Amanda, Kerr, Shona M, Kim, Yongkang, Kweon, Hyeokmoon, Latvala, Antti, Lawlor, Deborah A, Li, Liming, Lin, Kuang, Magnus, Per, Magnusson, Patrik KE, Mallard, Travis T, Martikainen, Pekka, Mills, Melinda C, Njølstad, Pål Rasmus, Overton, John D, Pedersen, Nancy L, Porteous, David J, Reid, Jeffrey, Silventoinen, Karri, Southey, Melissa C, Stoltenberg, Camilla, Tucker-Drob, Elliot M, Wright, Margaret J, Hewitt, John K, Keller, Matthew C, Stallings, Michael C, Lee, James J, Christensen, Kaare, Kardia, Sharon LR, Peyser, Patricia A, Smith, Jennifer A, Wilson, James F, Hopper, John L, Hägg, Sara, Spector, Tim D, Pingault, Jean-Baptiste, Plomin, Robert, Havdahl, Alexandra, Bartels, Meike, Martin, Nicholas G, Oskarsson, Sven, Justice, Anne E, Millwood, Iona Y, Hveem, Kristian, Naess, Øyvind, Willer, Cristen J, Åsvold, Bjørn Olav, Koellinger, Philipp D, Kaprio, Jaakko, Medland, Sarah E, Walters, Robin G, Benjamin, Daniel J, Turley, Patrick, Evans, David M, Davey Smith, George, Hayward, Caroline, Brumpton, Ben, Hemani, Gibran, and Davies, Neil M
Subjects: Human Genome, Genetics, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Generic health relevance, Genome-Wide Association Study, Humans, Mendelian Randomization Analysis, Multifactorial Inheritance, Phenotype, Polymorphism, Single Nucleotide, Social Science Genetic Association Consortium, Within Family Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: Estimates from genome-wide association studies (GWAS) of unrelated individuals capture effects of inherited variation (direct effects), demography (population stratification, assortative mating) and relatives (indirect genetic effects). Family-based GWAS designs can control for demographic and indirect genetic effects, but large-scale family datasets have been lacking. We combined data from 178,086 siblings from 19 cohorts to generate population (between-family) and within-sibship (within-family) GWAS estimates for 25 phenotypes. Within-sibship GWAS estimates were smaller than population estimates for height, educational attainment, age at first birth, number of children, cognitive ability, depressive symptoms and smoking. Some differences were observed in downstream SNP heritability, genetic correlations and Mendelian randomization analyses. For example, the within-sibship genetic correlation between educational attainment and body mass index attenuated towards zero. In contrast, analyses of most molecular phenotypes (for example, low-density lipoprotein-cholesterol) were generally consistent. We also found within-sibship evidence of polygenic adaptation on taller height. Here, we illustrate the importance of family-based GWAS data for phenotypes influenced by demographic and indirect genetic effects.
Published: 2022

2. Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Author: Shrine, Nick, Izquierdo, Abril G., Chen, Jing, Packer, Richard, Hall, Robert J., Guyatt, Anna L., Batini, Chiara, Thompson, Rebecca J., Pavuluri, Chandan, Malik, Vidhi, Hobbs, Brian D., Moll, Matthew, Kim, Wonji, Tal-Singer, Ruth, Bakke, Per, Fawcett, Katherine A., John, Catherine, Coley, Kayesha, Piga, Noemi Nicole, Pozarickij, Alfred, Lin, Kuang, Millwood, Iona Y., Chen, Zhengming, Li, Liming, Wijnant, Sara R. A., Lahousse, Lies, Brusselle, Guy, Uitterlinden, Andre G., Manichaikul, Ani, Oelsner, Elizabeth C., Rich, Stephen S., Barr, R. Graham, Kerr, Shona M., Vitart, Veronique, Brown, Michael R., Wielscher, Matthias, Imboden, Medea, Jeong, Ayoung, Bartz, Traci M., Gharib, Sina A., Flexeder, Claudia, Karrasch, Stefan, Gieger, Christian, Peters, Annette, Stubbe, Beate, Hu, Xiaowei, Ortega, Victor E., Meyers, Deborah A., Bleecker, Eugene R., Gabriel, Stacey B., Gupta, Namrata, Smith, Albert Vernon, Luan, Jian’an, Zhao, Jing-Hua, Hansen, Ailin F., Langhammer, Arnulf, Willer, Cristen, Bhatta, Laxmi, Porteous, David, Smith, Blair H., Campbell, Archie, Sofer, Tamar, Lee, Jiwon, Daviglus, Martha L., Yu, Bing, Lim, Elise, Xu, Hanfei, O’Connor, George T., Thareja, Gaurav, Albagha, Omar M. E., Suhre, Karsten, Granell, Raquel, Faquih, Tariq O., Hiemstra, Pieter S., Slats, Annelies M., Mullin, Benjamin H., Hui, Jennie, James, Alan, Beilby, John, Patasova, Karina, Hysi, Pirro, Koskela, Jukka T., Wyss, Annah B., Jin, Jianping, Sikdar, Sinjini, Lee, Mikyeong, May-Wilson, Sebastian, Pirastu, Nicola, Kentistou, Katherine A., Joshi, Peter K., Timmers, Paul R. H. J., Williams, Alexander T., Free, Robert C., Wang, Xueyang, Morrison, John L., Gilliland, Frank D., Chen, Zhanghua, Wang, Carol A., Foong, Rachel E., Harris, Sarah E., Taylor, Adele, Redmond, Paul, Cook, James P., Mahajan, Anubha, Lind, Lars, Palviainen, Teemu, Lehtimäki, Terho, Raitakari, Olli T., Kaprio, Jaakko, Rantanen, Taina, Pietiläinen, Kirsi H., Cox, Simon R., Pennell, Craig E., Hall, Graham L., Gauderman, W. James, Brightling, Chris, Wilson, James F., Vasankari, Tuula, Laitinen, Tarja, Salomaa, Veikko, Mook-Kanamori, Dennis O., Timpson, Nicholas J., Zeggini, Eleftheria, Dupuis, Josée, Hayward, Caroline, Brumpton, Ben, Langenberg, Claudia, Weiss, Stefan, Homuth, Georg, Schmidt, Carsten Oliver, Probst-Hensch, Nicole, Jarvelin, Marjo-Riitta, Morrison, Alanna C., Polasek, Ozren, Rudan, Igor, Lee, Joo-Hyeon, Sayers, Ian, Rawlins, Emma L., Dudbridge, Frank, Silverman, Edwin K., Strachan, David P., Walters, Robin G., Morris, Andrew P., London, Stephanie J., Cho, Michael H., Wain, Louise V., Hall, Ian P., and Tobin, Martin D.
Published: 2023
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3. Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Author: Shrine, Nick, Izquierdo, Abril G., Chen, Jing, Packer, Richard, Hall, Robert J., Guyatt, Anna L., Batini, Chiara, Thompson, Rebecca J., Pavuluri, Chandan, Malik, Vidhi, Hobbs, Brian D., Moll, Matthew, Kim, Wonji, Tal-Singer, Ruth, Bakke, Per, Fawcett, Katherine A., John, Catherine, Coley, Kayesha, Piga, Noemi Nicole, Pozarickij, Alfred, Lin, Kuang, Millwood, Iona Y., Chen, Zhengming, Li, Liming, Wijnant, Sara R. A., Lahousse, Lies, Brusselle, Guy, Uitterlinden, Andre G., Manichaikul, Ani, Oelsner, Elizabeth C., Rich, Stephen S., Barr, R. Graham, Kerr, Shona M., Vitart, Veronique, Brown, Michael R., Wielscher, Matthias, Imboden, Medea, Jeong, Ayoung, Bartz, Traci M., Gharib, Sina A., Flexeder, Claudia, Karrasch, Stefan, Gieger, Christian, Peters, Annette, Stubbe, Beate, Hu, Xiaowei, Ortega, Victor E., Meyers, Deborah A., Bleecker, Eugene R., Gabriel, Stacey B., Gupta, Namrata, Smith, Albert Vernon, Luan, Jian’an, Zhao, Jing-Hua, Hansen, Ailin F., Langhammer, Arnulf, Willer, Cristen, Bhatta, Laxmi, Porteous, David, Smith, Blair H., Campbell, Archie, Sofer, Tamar, Lee, Jiwon, Daviglus, Martha L., Yu, Bing, Lim, Elise, Xu, Hanfei, O’Connor, George T., Thareja, Gaurav, Albagha, Omar M. E., Suhre, Karsten, Granell, Raquel, Faquih, Tariq O., Hiemstra, Pieter S., Slats, Annelies M., Mullin, Benjamin H., Hui, Jennie, James, Alan, Beilby, John, Patasova, Karina, Hysi, Pirro, Koskela, Jukka T., Wyss, Annah B., Jin, Jianping, Sikdar, Sinjini, Lee, Mikyeong, May-Wilson, Sebastian, Pirastu, Nicola, Kentistou, Katherine A., Joshi, Peter K., Timmers, Paul R. H. J., Williams, Alexander T., Free, Robert C., Wang, Xueyang, Morrison, John L., Gilliland, Frank D., Chen, Zhanghua, Wang, Carol A., Foong, Rachel E., Harris, Sarah E., Taylor, Adele, Redmond, Paul, Cook, James P., Mahajan, Anubha, Lind, Lars, Palviainen, Teemu, Lehtimäki, Terho, Raitakari, Olli T., Kaprio, Jaakko, Rantanen, Taina, Pietiläinen, Kirsi H., Cox, Simon R., Pennell, Craig E., Hall, Graham L., Gauderman, W. James, Brightling, Chris, Wilson, James F., Vasankari, Tuula, Laitinen, Tarja, Salomaa, Veikko, Mook-Kanamori, Dennis O., Timpson, Nicholas J., Zeggini, Eleftheria, Dupuis, Josée, Hayward, Caroline, Brumpton, Ben, Langenberg, Claudia, Weiss, Stefan, Homuth, Georg, Schmidt, Carsten Oliver, Probst-Hensch, Nicole, Jarvelin, Marjo-Riitta, Morrison, Alanna C., Polasek, Ozren, Rudan, Igor, Lee, Joo-Hyeon, Sayers, Ian, Rawlins, Emma L., Dudbridge, Frank, Silverman, Edwin K., Strachan, David P., Walters, Robin G., Morris, Andrew P., London, Stephanie J., Cho, Michael H., Wain, Louise V., Hall, Ian P., and Tobin, Martin D.
Published: 2023
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4. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author: Watson, Hunna J, Yilmaz, Zeynep, Thornton, Laura M, Hübel, Christopher, Coleman, Jonathan RI, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Medland, Sarah E, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B, Purves, Kirstin L, Adan, Roger AH, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Baker, Jessica H, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Perica, Vesna Boraska, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver SP, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien JH, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, and Levitan, Robert D
Subjects: Biological Sciences, Genetics, Anorexia, Serious Mental Illness, Nutrition, Prevention, Mental Health, Clinical Research, Human Genome, Brain Disorders, Pediatric, Eating Disorders, Mental health, Adult, Anorexia Nervosa, Body Mass Index, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Male, Mental Disorders, Metabolic Diseases, Phenotype, Prognosis, Quantitative Trait Loci, Anorexia Nervosa Genetics Initiative, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9-4% of women and 0.3% of men2-4, with twin-based heritability estimates of 50-60%5. Mortality rates are higher than those in other psychiatric disorders6, and outcomes are unacceptably poor7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
Published: 2019

5. Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Author: Waage, Johannes, Standl, Marie, Curtin, John A, Jessen, Leon E, Thorsen, Jonathan, Tian, Chao, Schoettler, Nathan, The 23andMe Research Team, AAGC collaborators, Flores, Carlos, Abdellaoui, Abdel, Ahluwalia, Tarunveer S, Alves, Alexessander C, Amaral, Andre FS, Antó, Josep M, Arnold, Andreas, Barreto-Luis, Amalia, Baurecht, Hansjörg, van Beijsterveldt, Catharina EM, Bleecker, Eugene R, Bonàs-Guarch, Sílvia, Boomsma, Dorret I, Brix, Susanne, Bunyavanich, Supinda, Burchard, Esteban G, Chen, Zhanghua, Curjuric, Ivan, Custovic, Adnan, den Dekker, Herman T, Dharmage, Shyamali C, Dmitrieva, Julia, Duijts, Liesbeth, Ege, Markus J, Gauderman, W James, Georges, Michel, Gieger, Christian, Gilliland, Frank, Granell, Raquel, Gui, Hongsheng, Hansen, Torben, Heinrich, Joachim, Henderson, John, Hernandez-Pacheco, Natalia, Holt, Patrick, Imboden, Medea, Jaddoe, Vincent WV, Jarvelin, Marjo-Riitta, Jarvis, Deborah L, Jensen, Kamilla K, Jónsdóttir, Ingileif, Kabesch, Michael, Kaprio, Jaakko, Kumar, Ashish, Lee, Young-Ae, Levin, Albert M, Li, Xingnan, Lorenzo-Diaz, Fabian, Melén, Erik, Mercader, Josep M, Meyers, Deborah A, Myers, Rachel, Nicolae, Dan L, Nohr, Ellen A, Palviainen, Teemu, Paternoster, Lavinia, Pennell, Craig E, Pershagen, Göran, Pino-Yanes, Maria, Probst-Hensch, Nicole M, Rüschendorf, Franz, Simpson, Angela, Stefansson, Kari, Sunyer, Jordi, Sveinbjornsson, Gardar, Thiering, Elisabeth, Thompson, Philip J, Torrent, Maties, Torrents, David, Tung, Joyce Y, Wang, Carol A, Weidinger, Stephan, Weiss, Scott, Willemsen, Gonneke, Williams, L Keoki, Ober, Carole, Hinds, David A, Ferreira, Manuel A, Bisgaard, Hans, Strachan, David P, and Bønnelykke, Klaus
Subjects: Biological Sciences, Genetics, Human Genome, Allergic Rhinitis (Hay Fever), Prevention, Biotechnology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Allergens, Case-Control Studies, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Genome-Wide Association Study, HLA Antigens, Humans, Phenotype, Rhinitis, Allergic, Risk, 23andMe Research Team, AAGC collaborators, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Allergic rhinitis is the most common clinical presentation of allergy, affecting 400 million people worldwide, with increasing incidence in westernized countries1,2. To elucidate the genetic architecture and understand the underlying disease mechanisms, we carried out a meta-analysis of allergic rhinitis in 59,762 cases and 152,358 controls of European ancestry and identified a total of 41 risk loci for allergic rhinitis, including 20 loci not previously associated with allergic rhinitis, which were confirmed in a replication phase of 60,720 cases and 618,527 controls. Functional annotation implicated genes involved in various immune pathways, and fine mapping of the HLA region suggested amino acid variants important for antigen binding. We further performed genome-wide association study (GWAS) analyses of allergic sensitization against inhalant allergens and nonallergic rhinitis, which suggested shared genetic mechanisms across rhinitis-related traits. Future studies of the identified loci and genes might identify novel targets for treatment and prevention of allergic rhinitis.
Published: 2018

6. Genome-wide association analysis identifies six new loci associated with forced vital capacity

Author: Loth, Daan W, Artigas, María Soler, Gharib, Sina A, Wain, Louise V, Franceschini, Nora, Koch, Beate, Pottinger, Tess D, Smith, Albert Vernon, Duan, Qing, Oldmeadow, Chris, Lee, Mi Kyeong, Strachan, David P, James, Alan L, Huffman, Jennifer E, Vitart, Veronique, Ramasamy, Adaikalavan, Wareham, Nicholas J, Kaprio, Jaakko, Wang, Xin-Qun, Trochet, Holly, Kähönen, Mika, Flexeder, Claudia, Albrecht, Eva, Lopez, Lorna M, de Jong, Kim, Thyagarajan, Bharat, Alves, Alexessander Couto, Enroth, Stefan, Omenaas, Ernst, Joshi, Peter K, Fall, Tove, Viñuela, Ana, Launer, Lenore J, Loehr, Laura R, Fornage, Myriam, Li, Guo, Wilk, Jemma B, Tang, Wenbo, Manichaikul, Ani, Lahousse, Lies, Harris, Tamara B, North, Kari E, Rudnicka, Alicja R, Hui, Jennie, Gu, Xiangjun, Lumley, Thomas, Wright, Alan F, Hastie, Nicholas D, Campbell, Susan, Kumar, Rajesh, Pin, Isabelle, Scott, Robert A, Pietiläinen, Kirsi H, Surakka, Ida, Liu, Yongmei, Holliday, Elizabeth G, Schulz, Holger, Heinrich, Joachim, Davies, Gail, Vonk, Judith M, Wojczynski, Mary, Pouta, Anneli, Johansson, Åsa, Wild, Sarah H, Ingelsson, Erik, Rivadeneira, Fernando, Völzke, Henry, Hysi, Pirro G, Eiriksdottir, Gudny, Morrison, Alanna C, Rotter, Jerome I, Gao, Wei, Postma, Dirkje S, White, Wendy B, Rich, Stephen S, Hofman, Albert, Aspelund, Thor, Couper, David, Smith, Lewis J, Psaty, Bruce M, Lohman, Kurt, Burchard, Esteban G, Uitterlinden, André G, Garcia, Melissa, Joubert, Bonnie R, McArdle, Wendy L, Musk, A Bill, Hansel, Nadia, Heckbert, Susan R, Zgaga, Lina, van Meurs, Joyce BJ, Navarro, Pau, Rudan, Igor, Oh, Yeon-Mok, Redline, Susan, Jarvis, Deborah L, Zhao, Jing Hua, Rantanen, Taina, O'Connor, George T, and Ripatti, Samuli
Subjects: Biological Sciences, Genetics, Human Genome, Rare Diseases, Lung, Cancer, Lung Cancer, Respiratory, Cohort Studies, Databases, Genetic, Follow-Up Studies, Forced Expiratory Volume, Genetic Loci, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Lung Diseases, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Prognosis, Quantitative Trait Loci, Respiratory Function Tests, Spirometry, Vital Capacity, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
Published: 2014

7. Roadmap for a precision-medicine initiative in the Nordic region

Author: Njølstad, Pål Rasmus, Andreassen, Ole Andreas, Brunak, Søren, Børglum, Anders D., Dillner, Joakim, Esko, Tõnu, Franks, Paul W., Freimer, Nelson, Groop, Leif, Heimer, Hakon, Hougaard, David M., Hovig, Eivind, Hveem, Kristian, Jalanko, Anu, Kaprio, Jaakko, Knudsen, Gun Peggy, Melbye, Mads, Metspalu, Andres, Mortensen, Preben Bo, Palmgren, Juni, Palotie, Aarno, Reed, Wenche, Stefánsson, Hreinn, Stitziel, Nathan O., Sullivan, Patrick F., Thorsteinsdóttir, Unnur, Vaudel, Marc, Vuorio, Eero, Werge, Thomas, Stoltenberg, Camilla, and Stefánsson, Kári
Published: 2019
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8. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
Published: 2018
Full Text: View/download PDF

9. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Loohuis, Loes M. Olde, Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Edwards, Digna R. Velez, Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
Published: 2019
Full Text: View/download PDF

10. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., Loos, Ruth J. F., CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, and Understanding Society Scientific Group
Published: 2018
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11. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Author: Scott, Robert A, Lagou, Vasiliki, Welch, Ryan P, Wheeler, Eleanor, Montasser, May E, Luan, Jian'an, Mägi, Reedik, Strawbridge, Rona J, Rehnberg, Emil, Gustafsson, Stefan, Kanoni, Stavroula, Rasmussen-Torvik, Laura J, Yengo, Loïc, Lecoeur, Cecile, Shungin, Dmitry, Sanna, Serena, Sidore, Carlo, Johnson, Paul C D, Jukema, J Wouter, Johnson, Toby, Mahajan, Anubha, Verweij, Niek, Thorleifsson, Gudmar, Hottenga, Jouke-Jan, Shah, Sonia, Smith, Albert V, Sennblad, Bengt, Gieger, Christian, Salo, Perttu, Perola, Markus, Timpson, Nicholas J, Evans, David M, Pourcain, Beate St, Wu, Ying, Andrews, Jeanette S, Hui, Jennie, Bielak, Lawrence F, Zhao, Wei, Horikoshi, Momoko, Navarro, Pau, Isaacs, Aaron, O'Connell, Jeffrey R, Stirrups, Kathleen, Vitart, Veronique, Hayward, Caroline, Esko, Tõnu, Mihailov, Evelin, Fraser, Ross M, Fall, Tove, Voight, Benjamin F, Raychaudhuri, Soumya, Chen, Han, Lindgren, Cecilia M, Morris, Andrew P, Rayner, Nigel W, Robertson, Neil, Rybin, Denis, Liu, Ching-Ti, Beckmann, Jacques S, Willems, Sara M, Chines, Peter S, Jackson, Anne U, Kang, Hyun Min, Stringham, Heather M, Song, Kijoung, Tanaka, Toshiko, Peden, John F, Goel, Anuj, Hicks, Andrew A, An, Ping, Müller-Nurasyid, Martina, Franco-Cereceda, Anders, Folkersen, Lasse, Marullo, Letizia, Jansen, Hanneke, Oldehinkel, Albertine J, Bruinenberg, Marcel, Pankow, James S, North, Kari E, Forouhi, Nita G, Loos, Ruth J F, Edkins, Sarah, Varga, Tibor V, Hallmans, Göran, Oksa, Heikki, Antonella, Mulas, Nagaraja, Ramaiah, Trompet, Stella, Ford, Ian, Bakker, Stephan J L, Kong, Augustine, Kumari, Meena, Gigante, Bruna, Herder, Christian, Munroe, Patricia B, Caulfield, Mark, Antti, Jula, Mangino, Massimo, Small, Kerrin, Miljkovic, Iva, Liu, Yongmei, Atalay, Mustafa, Kiess, Wieland, James, Alan L, Rivadeneira, Fernando, Uitterlinden, Andre G, Palmer, Colin N A, Doney, Alex S F, Willemsen, Gonneke, Smit, Johannes H, Campbell, Susan, Polasek, Ozren, Bonnycastle, Lori L, Hercberg, Serge, Dimitriou, Maria, Bolton, Jennifer L, Fowkes, Gerard R, Kovacs, Peter, Lindström, Jaana, Zemunik, Tatijana, Bandinelli, Stefania, Wild, Sarah H, Basart, Hanneke V, Rathmann, Wolfgang, Grallert, Harald, Maerz, Winfried, Kleber, Marcus E, Boehm, Bernhard O, Peters, Annette, Pramstaller, Peter P, Province, Michael A, Borecki, Ingrid B, Hastie, Nicholas D, Rudan, Igor, Campbell, Harry, Watkins, Hugh, Farrall, Martin, Stumvoll, Michael, Ferrucci, Luigi, Waterworth, Dawn M, Bergman, Richard N, Collins, Francis S, Tuomilehto, Jaakko, Watanabe, Richard M, de Geus, Eco J C, Penninx, Brenda W, Hofman, Albert, Oostra, Ben A, Psaty, Bruce M, Vollenweider, Peter, Wilson, James F, Wright, Alan F, Hovingh, G Kees, Metspalu, Andres, Uusitupa, Matti, Magnusson, Patrik K E, Kyvik, Kirsten O, Kaprio, Jaakko, Price, Jackie F, Dedoussis, George V, Deloukas, Panos, Meneton, Pierre, Lind, Lars, Boehnke, Michael, Shuldiner, Alan R, van Duijn, Cornelia M, Morris, Andrew D, Toenjes, Anke, Peyser, Patricia A, Beilby, John P, Körner, Antje, Kuusisto, Johanna, Laakso, Markku, Bornstein, Stefan R, Schwarz, Peter E H, Lakka, Timo A, Rauramaa, Rainer, Adair, Linda S, Smith, George Davey, Spector, Tim D, Illig, Thomas, de Faire, Ulf, Hamsten, Anders, Gudnason, Vilmundur, Kivimaki, Mika, Hingorani, Aroon, Keinanen-Kiukaanniemi, Sirkka M, Saaristo, Timo E, Boomsma, Dorret I, Stefansson, Kari, van der Harst, Pim, Dupuis, Josée, Pedersen, Nancy L, Sattar, Naveed, Harris, Tamara B, Cucca, Francesco, Ripatti, Samuli, Salomaa, Veikko, Mohlke, Karen L, Balkau, Beverley, Froguel, Philippe, Pouta, Anneli, Jarvelin, Marjo-Riitta, Wareham, Nicholas J, Bouatia-Naji, Nabila, McCarthy, Mark I, Franks, Paul W, Meigs, James B, Teslovich, Tanya M, Florez, Jose C, Langenberg, Claudia, Ingelsson, Erik, Prokopenko, Inga, and Barroso, Inês
Published: 2012
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12. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

Author: Manning, Alisa K, Hivert, Marie-France, Scott, Robert A, Grimsby, Jonna L, Bouatia-Naji, Nabila, Chen, Han, Rybin, Denis, Liu, Ching-Ti, Bielak, Lawrence F, Prokopenko, Inga, Amin, Najaf, Barnes, Daniel, Cadby, Gemma, Hottenga, Jouke-Jan, Ingelsson, Erik, Jackson, Anne U, Johnson, Toby, Kanoni, Stavroula, Ladenvall, Claes, Lagou, Vasiliki, Lahti, Jari, Lecoeur, Cecile, Liu, Yongmei, Martinez-Larrad, Maria Teresa, Montasser, May E, Navarro, Pau, Perry, John R B, Rasmussen-Torvik, Laura J, Salo, Perttu, Sattar, Naveed, Shungin, Dmitry, Strawbridge, Rona J, Tanaka, Toshiko, van Duijn, Cornelia M, An, Ping, de Andrade, Mariza, Andrews, Jeanette S, Aspelund, Thor, Atalay, Mustafa, Aulchenko, Yurii, Balkau, Beverley, Bandinelli, Stefania, Beckmann, Jacques S, Beilby, John P, Bellis, Claire, Bergman, Richard N, Blangero, John, Boban, Mladen, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Borecki, Ingrid B, Böttcher, Yvonne, Bouchard, Claude, Brunner, Eric, Budimir, Danijela, Campbell, Harry, Carlson, Olga, Chines, Peter S, Clarke, Robert, Collins, Francis S, Corbatón-Anchuelo, Arturo, Couper, David, de Faire, Ulf, Dedoussis, George V, Deloukas, Panos, Dimitriou, Maria, Egan, Josephine M, Eiriksdottir, Gudny, Erdos, Michael R, Eriksson, Johan G, Eury, Elodie, Ferrucci, Luigi, Ford, Ian, Forouhi, Nita G, Fox, Caroline S, Franzosi, Maria Grazia, Franks, Paul W, Frayling, Timothy M, Froguel, Philippe, Galan, Pilar, de Geus, Eco, Gigante, Bruna, Glazer, Nicole L, Goel, Anuj, Groop, Leif, Gudnason, Vilmundur, Hallmans, Göran, Hamsten, Anders, Hansson, Ola, Harris, Tamara B, Hayward, Caroline, Heath, Simon, Hercberg, Serge, Hicks, Andrew A, Hingorani, Aroon, Hofman, Albert, Hui, Jennie, Hung, Joseph, Jarvelin, Marjo-Riitta, Jhun, Min A, Johnson, Paul C D, Jukema, J Wouter, Jula, Antti, Kao, W H, Kaprio, Jaakko, Kardia, Sharon L R, Keinanen-Kiukaanniemi, Sirkka, Kivimaki, Mika, Kolcic, Ivana, Kovacs, Peter, Kumari, Meena, Kuusisto, Johanna, Kyvik, Kirsten Ohm, Laakso, Markku, Lakka, Timo, Lannfelt, Lars, Lathrop, G Mark, Launer, Lenore J, Leander, Karin, Li, Guo, Lind, Lars, Lindstrom, Jaana, Lobbens, Stéphane, Loos, Ruth J F, Luan, Jian'an, Lyssenko, Valeriya, Mägi, Reedik, Magnusson, Patrik K E, Marmot, Michael, Meneton, Pierre, Mohlke, Karen L, Mooser, Vincent, Morken, Mario A, Miljkovic, Iva, Narisu, Narisu, O'Connell, Jeff, Ong, Ken K, Oostra, Ben A, Palmer, Lyle J, Palotie, Aarno, Pankow, James S, Peden, John F, Pedersen, Nancy L, Pehlic, Marina, Peltonen, Leena, Penninx, Brenda, Pericic, Marijana, Perola, Markus, Perusse, Louis, Peyser, Patricia A, Polasek, Ozren, Pramstaller, Peter P, Province, Michael A, Räikkönen, Katri, Rauramaa, Rainer, Rehnberg, Emil, Rice, Ken, Rotter, Jerome I, Rudan, Igor, Ruokonen, Aimo, Saaristo, Timo, Sabater-Lleal, Maria, Salomaa, Veikko, Savage, David B, Saxena, Richa, Schwarz, Peter, Seedorf, Udo, Sennblad, Bengt, Serrano-Rios, Manuel, Shuldiner, Alan R, Sijbrands, Eric J G, Siscovick, David S, Smit, Johannes H, Small, Kerrin S, Smith, Nicholas L, Smith, Albert Vernon, Stančáková, Alena, Stirrups, Kathleen, Stumvoll, Michael, Sun, Yan V, Swift, Amy J, Tönjes, Anke, Tuomilehto, Jaakko, Trompet, Stella, Uitterlinden, Andre G, Uusitupa, Matti, Vikström, Max, Vitart, Veronique, Vohl, Marie-Claude, Voight, Benjamin F, Vollenweider, Peter, Waeber, Gerard, Waterworth, Dawn M, Watkins, Hugh, Wheeler, Eleanor, Widen, Elisabeth, Wild, Sarah H, Willems, Sara M, Willemsen, Gonneke, Wilson, James F, Witteman, Jacqueline C M, Wright, Alan F, Yaghootkar, Hanieh, Zelenika, Diana, Zemunik, Tatijana, Zgaga, Lina, Wareham, Nicholas J, McCarthy, Mark I, Barroso, Ines, Watanabe, Richard M, Florez, Jose C, Dupuis, Josée, Meigs, James B, and Langenberg, Claudia
Published: 2012
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13. Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Author: Min, Josine L., Hemani, Gibran, Hannon, Eilis, Dekkers, Koen F., Castillo-Fernandez, Juan, Luijk, René, Carnero-Montoro, Elena, Lawson, Daniel J., Burrows, Kimberley, Suderman, Matthew, Bretherick, Andrew D., Richardson, Tom G., Klughammer, Johanna, Iotchkova, Valentina, Sharp, Gemma, Al Khleifat, Ahmad, Shatunov, Aleksey, Iacoangeli, Alfredo, McArdle, Wendy L., Ho, Karen M., Kumar, Ashish, Söderhäll, Cilla, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Kazmi, Nabila, Mason, Dan, McRae, Allan F., Corcoran, David L., Sugden, Karen, Kasela, Silva, Cardona, Alexia, Day, Felix R., Cugliari, Giovanni, Viberti, Clara, Guarrera, Simonetta, Lerro, Michael, Gupta, Richa, Bollepalli, Sailalitha, Mandaviya, Pooja, Zeng, Yanni, Clarke, Toni-Kim, Walker, Rosie M., Schmoll, Vanessa, Czamara, Darina, Ruiz-Arenas, Carlos, Rezwan, Faisal I., Marioni, Riccardo E., Lin, Tian, Awaloff, Yvonne, Germain, Marine, Aïssi, Dylan, Zwamborn, Ramona, van Eijk, Kristel, Dekker, Annelot, van Dongen, Jenny, Hottenga, Jouke-Jan, Willemsen, Gonneke, Xu, Cheng-Jian, Barturen, Guillermo, Català-Moll, Francesc, Kerick, Martin, Wang, Carol, Melton, Phillip, Elliott, Hannah R., Shin, Jean, Bernard, Manon, Yet, Idil, Smart, Melissa, Gorrie-Stone, Tyler, Shaw, Chris, Al Chalabi, Ammar, Ring, Susan M., Pershagen, Göran, Melén, Erik, Jiménez-Conde, Jordi, Roquer, Jaume, Lawlor, Deborah A., Wright, John, Martin, Nicholas G., Montgomery, Grant W., Moffitt, Terrie E., Poulton, Richie, Esko, Tõnu, Milani, Lili, Metspalu, Andres, Perry, John R. B., Ong, Ken K., Wareham, Nicholas J., Matullo, Giuseppe, Sacerdote, Carlotta, Panico, Salvatore, Caspi, Avshalom, Arseneault, Louise, Gagnon, France, Ollikainen, Miina, Kaprio, Jaakko, Felix, Janine F., Rivadeneira, Fernando, Tiemeier, Henning, van IJzendoorn, Marinus H., Uitterlinden, André G., Jaddoe, Vincent W. V., Haley, Chris, McIntosh, Andrew M., Evans, Kathryn L., Murray, Alison, Räikkönen, Katri, Lahti, Jari, Nohr, Ellen A., Sørensen, Thorkild I. A., Hansen, Torben, Morgen, Camilla S., Binder, Elisabeth B., Lucae, Susanne, Gonzalez, Juan Ramon, Bustamante, Mariona, Sunyer, Jordi, Holloway, John W., Karmaus, Wilfried, Zhang, Hongmei, Deary, Ian J., Wray, Naomi R., Starr, John M., Beekman, Marian, van Heemst, Diana, Slagboom, P. Eline, Morange, Pierre-Emmanuel, Trégouët, David-Alexandre, Veldink, Jan H., Davies, Gareth E., de Geus, Eco J. C., Boomsma, Dorret I., Vonk, Judith M., Brunekreef, Bert, Koppelman, Gerard H., Alarcón-Riquelme, Marta E., Huang, Rae-Chi, Pennell, Craig E., van Meurs, Joyce, Ikram, M. Arfan, Hughes, Alun D., Tillin, Therese, Chaturvedi, Nish, Pausova, Zdenka, Paus, Tomas, Spector, Timothy D., Kumari, Meena, Schalkwyk, Leonard C., Visscher, Peter M., Davey Smith, George, Bock, Christoph, Gaunt, Tom R., Bell, Jordana T., Heijmans, Bastiaan T., Mill, Jonathan, and Relton, Caroline L.
Abstract: Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants associated with DNAm at 420,509 DNAm sites in blood. We present a database of >270,000 independent mQTLs, of which 8.5% comprise long-range (trans) associations. Identified mQTL associations explain 15–17% of the additive genetic variance of DNAm. We show that the genetic architecture of DNAm levels is highly polygenic. Using shared genetic control between distal DNAm sites, we constructed networks, identifying 405 discrete genomic communities enriched for genomic annotations and complex traits. Shared genetic variants are associated with both DNAm levels and complex diseases, but only in a minority of cases do these associations reflect causal relationships from DNAm to trait or vice versa, indicating a more complex genotype–phenotype map than previously anticipated.
Published: 2021
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14. Sequence variants at CHRNB3?€'CHRNA6 and CYP2A6 affect smoking behavior

Author: Thorgeirsson, Thorgeir E, Gudbjartsson, Daniel F, Surakka, Ida, Vink, Jacqueline M, Amin, Najaf, Geller, Frank, Sulem, Patrick, Rafnar, Thorunn, Esko, Tõnu, Walter, Stefan, Gieger, Christian, Rawal, Rajesh, Mangino, Massimo, Prokopenko, Inga, Mägi, Reedik, Keskitalo, Kaisu, Gudjonsdottir, Iris H, Gretarsdottir, Solveig, Stefansson, Hreinn, Thompson, John R, Aulchenko, Yurii S, Nelis, Mari, Aben, Katja K, den Heijer, Martin, Dirksen, Asger, Ashraf, Haseem, Soranzo, Nicole, Valdes, Ana M, Steves, Claire, Uitterlinden, André G, Hofman, Albert, Tönjes, Anke, Kovacs, Peter, Hottenga, Jouke Jan, Willemsen, Gonneke, Vogelzangs, Nicole, Döring, Angela, Dahmen, Norbert, Nitz, Barbara, Pergadia, Michele L, Saez, Berta, De Diego, Veronica, Lezcano, Victoria, Garcia-Prats, Maria D, Ripatti, Samuli, Perola, Markus, Kettunen, Johannes, Hartikainen, Anna-Liisa, Pouta, Anneli, Laitinen, Jaana, Isohanni, Matti, Huei-Yi, Shen, Allen, Maxine, Krestyaninova, Maria, Hall, Alistair S, Jones, Gregory T, van Rij, Andre M, Mueller, Thomas, Dieplinger, Benjamin, Haltmayer, Meinhard, Jonsson, Steinn, Matthiasson, Stefan E, Oskarsson, Hogni, Tyrfingsson, Thorarinn, Kiemeney, Lambertus A, Mayordomo, Jose I, Lindholt, Jes S, Pedersen, Jesper Holst, Franklin, Wilbur A, Wolf, Holly, Montgomery, Grant W, Heath, Andrew C, Martin, Nicholas G, Madden, Pamela A F, Giegling, Ina, Rujescu, Dan, Järvelin, Marjo-Riitta, Salomaa, Veikko, Stumvoll, Michael, Spector, Tim D, Wichmann, H-Erich, Metspalu, Andres, Samani, Nilesh J, Penninx, Brenda W, Oostra, Ben A, Boomsma, Dorret I, Tiemeier, Henning, van Duijn, Cornelia M, Kaprio, Jaakko, Gulcher, Jeffrey R, McCarthy, Mark I, Peltonen, Leena, Thorsteinsdottir, Unnur, and Stefansson, Kari
Published: 2010
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15. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

Author: Aulchenko, Yurii S, Ripatti, Samuli, Lindqvist, Ida, Boomsma, Dorret, Heid, Iris M, Pramstaller, Peter P, Penninx, Brenda W J H, Janssens, A Cecile J W, Wilson, James F, Spector, Tim, Martin, Nicholas G, Pedersen, Nancy L, Kyvik, Kirsten Ohm, Kaprio, Jaakko, Hofman, Albert, Freimer, Nelson B, Jarvelin, Marjo-Riitta, Gyllensten, Ulf, Campbell, Harry, Rudan, Igor, Johansson, Asa, Marroni, Fabio, Hayward, Caroline, Vitart, Veronique, Jonasson, Inger, Pattaro, Cristian, Wright, Alan, Hastie, Nick, Pichler, Irene, Hicks, Andrew A, Falchi, Mario, Willemsen, Gonneke, Hottenga, Jouke-Jan, de Geus, Eco J C, Montgomery, Grant W, Whitfield, John, Magnusson, Patrik, Saharinen, Juha, Perola, Markus, Silander, Kaisa, Isaacs, Aaron, Sijbrands, Eric J G, Uitterlinden, Andre G, Witteman, Jacqueline C M, Oostra, Ben A, Elliott, Paul, Ruokonen, Aimo, Sabatti, Chiara, Gieger, Christian, Meitinger, Thomas, Kronenberg, Florian, Döring, Angela, Wichmann, H-Erich, Smit, Johannes H, McCarthy, Mark I, van Duijn, Cornelia M, Peltonen, Leena, Consortium, ENGAGE, Psychiatry, EMGO - Mental health, NCA - Anxiety & Depression, Epidemiology, Internal Medicine, Clinical Genetics, Biological Psychology, Neuroscience Campus Amsterdam - Anxiety & Depression, and EMGO+ - Mental Health
Subjects: Male, Netherlands Twin Register (NTR), Blood lipids, Coronary Disease, 030204 cardiovascular system & hematology, Body Mass Index, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, 80 and over, genetics, Genetics, 0303 health sciences, education.field_of_study, blood/genetics, Sex Characteristics, Genome, Adolescent, Adult, Aged, Aged, 80 and over, Body Mass Index, Cholesterol, HDL, blood, Cohort Studies, Coronary Disease, blood/genetics, European Continental Ancestry Group, genetics, Female, Genetic Predisposition to Disease, Genetic Testing, Genome, Human, genetics, Humans, Lipids, blood, Male, Metabolic Networks and Pathways, genetics, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, genetics, Quantitative Trait Loci, genetics, Sex Characteristics, Middle Aged, Lipids, 3. Good health, Cholesterol, Phenotype, Cohort, Female, lipids (amino acids, peptides, and proteins), Metabolic Networks and Pathways, Adult, medicine.medical_specialty, Adolescent, Population, European Continental Ancestry Group, Quantitative Trait Loci, Biology, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, blood, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Polymorphism, education, 030304 developmental biology, Aged, medicine.disease, Endocrinology, chemistry, Intima-media thickness, Body mass index, Dyslipidemia, Lipoprotein
Abstract: Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. Our study included a total of 17,797-22,562 persons, aged 18-104 years and from geographic regions spanning from the Nordic countries to Southern Europe. We established 22 loci associated with serum lipid levels at a genome-wide significance level (P < 5 x 10(-8)), including 16 loci that were identified by previous GWA studies. The six newly identified loci in our cohort samples are ABCG5 (TC, P = 1.5 x 10(-11); LDL, P = 2.6 x 10(-10)), TMEM57 (TC, P = 5.4 x 10(-10)), CTCF-PRMT8 region (HDL, P = 8.3 x 10(-16)), DNAH11 (LDL, P = 6.1 x 10(-9)), FADS3-FADS2 (TC, P = 1.5 x 10(-10); LDL, P = 4.4 x 10(-13)) and MADD-FOLH1 region (HDL, P = 6 x 10(-11)). For three loci, effect sizes differed significantly by sex. Genetic risk scores based on lipid loci explain up to 4.8% of variation in lipids and were also associated with increased intima media thickness (P = 0.001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors.
Published: 2009

16. 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 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, John P., Rimm, Eric, Rose, Richard J., Runarsdottir, Valgerdur, Stallings, Michael C., Stančáková, Alena, Stefansson, Hreinn, Thai, Khanh K., Tindle, Hilary A., Tyrfingsson, Thorarinn, Wall, Tamara L., Weir, David R., Weisner, Constance, Whitfield, John B., Winsvold, Bendik Slagsvold, Yin, Jie, Zuccolo, Luisa, Bierut, Laura J., Hveem, Kristian, Lee, James J., Munafò, Marcus R., Saccone, Nancy L., Willer, Cristen J., Cornelis, Marilyn C., David, Sean P., Hinds, David A., Jorgenson, Eric, Kaprio, Jaakko, Stitzel, Jerry A., Stefansson, Kari, Thorgeirsson, Thorgeir E., Abecasis, Gonçalo, Liu, Dajiang J., and Vrieze, Scott
Abstract: Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3and etiologically related4,5behaviors 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
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17. Common variants associated with plasma triglycerides and risk for coronary artery disease

Author: Do, Ron, primary, Willer, Cristen J, additional, Schmidt, Ellen M, additional, Sengupta, Sebanti, additional, Gao, Chi, additional, Peloso, Gina M, additional, Gustafsson, Stefan, additional, Kanoni, Stavroula, additional, Ganna, Andrea, additional, Chen, Jin, additional, Buchkovich, Martin L, additional, Mora, Samia, additional, Beckmann, Jacques S, additional, Bragg-Gresham, Jennifer L, additional, Chang, Hsing-Yi, additional, Demirkan, Ayşe, additional, Den Hertog, Heleen M, additional, Donnelly, Louise A, additional, Ehret, Georg B, additional, Esko, Tõnu, additional, Feitosa, Mary F, additional, Ferreira, Teresa, additional, Fischer, Krista, additional, Fontanillas, Pierre, additional, Fraser, Ross M, additional, Freitag, Daniel F, additional, Gurdasani, Deepti, additional, Heikkilä, Kauko, additional, Hyppönen, Elina, additional, Isaacs, Aaron, additional, Jackson, Anne U, additional, Johansson, Åsa, additional, Johnson, Toby, additional, Kaakinen, Marika, additional, Kettunen, Johannes, additional, Kleber, Marcus E, additional, Li, Xiaohui, additional, Luan, Jian'an, additional, Lyytikäinen, Leo-Pekka, additional, Magnusson, Patrik K E, additional, Mangino, Massimo, additional, Mihailov, Evelin, additional, Montasser, May E, additional, Müller-Nurasyid, Martina, additional, Nolte, Ilja M, additional, O'Connell, Jeffrey R, additional, Palmer, Cameron D, additional, Perola, Markus, additional, Petersen, Ann-Kristin, additional, Sanna, Serena, additional, Saxena, Richa, additional, Service, Susan K, additional, Shah, Sonia, additional, Shungin, Dmitry, additional, Sidore, Carlo, additional, Song, Ci, additional, Strawbridge, Rona J, additional, Surakka, Ida, additional, Tanaka, Toshiko, additional, Teslovich, Tanya M, additional, Thorleifsson, Gudmar, additional, Van den Herik, Evita G, additional, Voight, Benjamin F, additional, Volcik, Kelly A, additional, Waite, Lindsay L, additional, Wong, Andrew, additional, Wu, Ying, additional, Zhang, Weihua, additional, Absher, Devin, additional, Asiki, Gershim, additional, Barroso, Inês, additional, Been, Latonya F, additional, Bolton, Jennifer L, additional, Bonnycastle, Lori L, additional, Brambilla, Paolo, additional, Burnett, Mary S, additional, Cesana, Giancarlo, additional, Dimitriou, Maria, additional, Doney, Alex S F, additional, Döring, Angela, additional, Elliott, Paul, additional, Epstein, Stephen E, additional, Eyjolfsson, Gudmundur Ingi, additional, Gigante, Bruna, additional, Goodarzi, Mark O, additional, Grallert, Harald, additional, Gravito, Martha L, additional, Groves, Christopher J, additional, Hallmans, Göran, additional, Hartikainen, Anna-Liisa, additional, Hayward, Caroline, additional, Hernandez, Dena, additional, Hicks, Andrew A, additional, Holm, Hilma, additional, Hung, Yi-Jen, additional, Illig, Thomas, additional, Jones, Michelle R, additional, Kaleebu, Pontiano, additional, Kastelein, John J P, additional, Khaw, Kay-Tee, additional, Kim, Eric, additional, Klopp, Norman, additional, Komulainen, Pirjo, additional, Kumari, Meena, additional, Langenberg, Claudia, additional, Lehtimäki, Terho, additional, Lin, Shih-Yi, additional, Lindström, Jaana, additional, Loos, Ruth J F, additional, Mach, François, additional, McArdle, Wendy L, additional, Meisinger, Christa, additional, Mitchell, Braxton D, additional, Müller, Gabrielle, additional, Nagaraja, Ramaiah, additional, Narisu, Narisu, additional, Nieminen, Tuomo V M, additional, Nsubuga, Rebecca N, additional, Olafsson, Isleifur, additional, Ong, Ken K, additional, Palotie, Aarno, additional, Papamarkou, Theodore, additional, Pomilla, Cristina, additional, Pouta, Anneli, additional, Rader, Daniel J, additional, Reilly, Muredach P, additional, Ridker, Paul M, additional, Rivadeneira, Fernando, additional, Rudan, Igor, additional, Ruokonen, Aimo, additional, Samani, Nilesh, additional, Scharnagl, Hubert, additional, Seeley, Janet, additional, Silander, Kaisa, additional, Stančáková, Alena, additional, Stirrups, Kathleen, additional, Swift, Amy J, additional, Tiret, Laurence, additional, Uitterlinden, Andre G, additional, van Pelt, L Joost, additional, Vedantam, Sailaja, additional, Wainwright, Nicholas, additional, Wijmenga, Cisca, additional, Wild, Sarah H, additional, Willemsen, Gonneke, additional, Wilsgaard, Tom, additional, Wilson, James F, additional, Young, Elizabeth H, additional, Zhao, Jing Hua, additional, Adair, Linda S, additional, Arveiler, Dominique, additional, Assimes, Themistocles L, additional, Bandinelli, Stefania, additional, Bennett, Franklyn, additional, Bochud, Murielle, additional, Boehm, Bernhard O, additional, Boomsma, Dorret I, additional, Borecki, Ingrid B, additional, Bornstein, Stefan R, additional, Bovet, Pascal, additional, Burnier, Michel, additional, Campbell, Harry, additional, Chakravarti, Aravinda, additional, Chambers, John C, additional, Chen, Yii-Der Ida, additional, Collins, Francis S, additional, Cooper, Richard S, additional, Danesh, John, additional, Dedoussis, George, additional, de Faire, Ulf, additional, Feranil, Alan B, additional, Ferrières, Jean, additional, Ferrucci, Luigi, additional, Freimer, Nelson B, additional, Gieger, Christian, additional, Groop, Leif C, additional, Gudnason, Vilmundur, additional, Gyllensten, Ulf, additional, Hamsten, Anders, additional, Harris, Tamara B, additional, Hingorani, Aroon, additional, Hirschhorn, Joel N, additional, Hofman, Albert, additional, Hovingh, G Kees, additional, Hsiung, Chao Agnes, additional, Humphries, Steve E, additional, Hunt, Steven C, additional, Hveem, Kristian, additional, Iribarren, Carlos, additional, Järvelin, Marjo-Riitta, additional, Jula, Antti, additional, Kähönen, Mika, additional, Kaprio, Jaakko, additional, Kesäniemi, Antero, additional, Kivimaki, Mika, additional, Kooner, Jaspal S, additional, Koudstaal, Peter J, additional, Krauss, Ronald M, additional, Kuh, Diana, additional, Kuusisto, Johanna, additional, Kyvik, Kirsten O, additional, Laakso, Markku, additional, Lakka, Timo A, additional, Lind, Lars, additional, Lindgren, Cecilia M, additional, Martin, Nicholas G, additional, März, Winfried, additional, McCarthy, Mark I, additional, McKenzie, Colin A, additional, Meneton, Pierre, additional, Metspalu, Andres, additional, Moilanen, Leena, additional, Morris, Andrew D, additional, Munroe, Patricia B, additional, Njølstad, Inger, additional, Pedersen, Nancy L, additional, Power, Chris, additional, Pramstaller, Peter P, additional, Price, Jackie F, additional, Psaty, Bruce M, additional, Quertermous, Thomas, additional, Rauramaa, Rainer, additional, Saleheen, Danish, additional, Salomaa, Veikko, additional, Sanghera, Dharambir K, additional, Saramies, Jouko, additional, Schwarz, Peter E H, additional, Sheu, Wayne H-H, additional, Shuldiner, Alan R, additional, Siegbahn, Agneta, additional, Spector, Tim D, additional, Stefansson, Kari, additional, Strachan, David P, additional, Tayo, Bamidele O, additional, Tremoli, Elena, additional, Tuomilehto, Jaakko, additional, Uusitupa, Matti, additional, van Duijn, Cornelia M, additional, Vollenweider, Peter, additional, Wallentin, Lars, additional, Wareham, Nicholas J, additional, Whitfield, John B, additional, Wolffenbuttel, Bruce H R, additional, Altshuler, David, additional, Ordovas, Jose M, additional, Boerwinkle, Eric, additional, Palmer, Colin N A, additional, Thorsteinsdottir, Unnur, additional, Chasman, Daniel I, additional, Rotter, Jerome I, additional, Franks, Paul W, additional, Ripatti, Samuli, additional, Cupples, L Adrienne, additional, Sandhu, Manjinder S, additional, Rich, Stephen S, additional, Boehnke, Michael, additional, Deloukas, Panos, additional, Mohlke, Karen L, additional, Ingelsson, Erik, additional, Abecasis, Goncalo R, additional, Daly, Mark J, additional, Neale, Benjamin M, additional, and Kathiresan, Sekar, additional
Published: 2013
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18. Genome-wide association study identifies multiple loci influencing human serum metabolite levels

Author: Kettunen, Johannes, primary, Tukiainen, Taru, additional, Sarin, Antti-Pekka, additional, Ortega-Alonso, Alfredo, additional, Tikkanen, Emmi, additional, Lyytikäinen, Leo-Pekka, additional, Kangas, Antti J, additional, Soininen, Pasi, additional, Würtz, Peter, additional, Silander, Kaisa, additional, Dick, Danielle M, additional, Rose, Richard J, additional, Savolainen, Markku J, additional, Viikari, Jorma, additional, Kähönen, Mika, additional, Lehtimäki, Terho, additional, Pietiläinen, Kirsi H, additional, Inouye, Michael, additional, McCarthy, Mark I, additional, Jula, Antti, additional, Eriksson, Johan, additional, Raitakari, Olli T, additional, Salomaa, Veikko, additional, Kaprio, Jaakko, additional, Järvelin, Marjo-Riitta, additional, Peltonen, Leena, additional, Perola, Markus, additional, Freimer, Nelson B, additional, Ala-Korpela, Mika, additional, Palotie, Aarno, additional, and Ripatti, Samuli, additional
Published: 2012
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19. Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Author: Barban, Nicola, Jansen, Rick, de Vlaming, Ronald, Vaez, Ahmad, Mandemakers, Jornt J, Tropf, Felix C, Shen, Xia, Wilson, James F, Chasman, Daniel I, Nolte, Ilja M, Tragante, Vinicius, van der Laan, Sander W, Perry, John R B, Kong, Augustine, Ahluwalia, Tarunveer S, Albrecht, Eva, Yerges-Armstrong, Laura, Atzmon, Gil, Auro, Kirsi, Ayers, Kristin, Bakshi, Andrew, Ben-Avraham, Danny, Berger, Klaus, Bergman, Aviv, Bertram, Lars, Bielak, Lawrence F, Bjornsdottir, Gyda, Bonder, Marc Jan, Broer, Linda, Bui, Minh, Barbieri, Caterina, Cavadino, Alana, Chavarro, Jorge E, Turman, Constance, Concas, Maria Pina, Cordell, Heather J, Davies, Gail, Eibich, Peter, Eriksson, Nicholas, Esko, Tõnu, Eriksson, Joel, Falahi, Fahimeh, Felix, Janine F, Fontana, Mark Alan, Franke, Lude, Gandin, Ilaria, Gaskins, Audrey J, Gieger, Christian, Gunderson, Erica P, Guo, Xiuqing, Hayward, Caroline, He, Chunyan, Hofer, Edith, Huang, Hongyan, Joshi, Peter K, Kanoni, Stavroula, Karlsson, Robert, Kiechl, Stefan, Kifley, Annette, Kluttig, Alexander, Kraft, Peter, Lagou, Vasiliki, Lecoeur, Cecile, Lahti, Jari, Li-Gao, Ruifang, Lind, Penelope A, Liu, Tian, Makalic, Enes, Mamasoula, Crysovalanto, Matteson, Lindsay, Mbarek, Hamdi, McArdle, Patrick F, McMahon, George, Meddens, S Fleur W, Mihailov, Evelin, Miller, Mike, Missmer, Stacey A, Monnereau, Claire, van der Most, Peter J, Myhre, Ronny, Nalls, Mike A, Nutile, Teresa, Kalafati, Ioanna Panagiota, Porcu, Eleonora, Prokopenko, Inga, Rajan, Kumar B, Rich-Edwards, Janet, Rietveld, Cornelius A, Robino, Antonietta, Rose, Lynda M, Rueedi, Rico, Ryan, Kathleen A, Saba, Yasaman, Schmidt, Daniel, Smith, Jennifer A, Stolk, Lisette, Streeten, Elizabeth, Tönjes, Anke, Thorleifsson, Gudmar, Ulivi, Sheila, Wedenoja, Juho, Wellmann, Juergen, Willeit, Peter, Yao, Jie, Yengo, Loic, Zhao, Jing Hua, Zhao, Wei, Zhernakova, Daria V, Amin, Najaf, Andrews, Howard, Balkau, Beverley, Barzilai, Nir, Bergmann, Sven, Biino, Ginevra, Bisgaard, Hans, Bønnelykke, Klaus, Boomsma, Dorret I, Buring, Julie E, Campbell, Harry, Cappellani, Stefania, Ciullo, Marina, Cox, Simon R, Cucca, Francesco, Toniolo, Daniela, Davey-Smith, George, Deary, Ian J, Dedoussis, George, Deloukas, Panos, van Duijn, Cornelia M, de Geus, Eco J C, Eriksson, Johan G, Evans, Denis A, Faul, Jessica D, Sala, Cinzia Felicita, Froguel, Philippe, Gasparini, Paolo, Girotto, Giorgia, Grabe, Hans-Jörgen, Greiser, Karin Halina, Groenen, Patrick J F, de Haan, Hugoline G, Haerting, Johannes, Harris, Tamara B, Heath, Andrew C, Heikkilä, Kauko, Hofman, Albert, Homuth, Georg, Holliday, Elizabeth G, Hopper, John, Hyppönen, Elina, Jacobsson, Bo, Jaddoe, Vincent W V, Johannesson, Magnus, Jugessur, Astanand, Kähönen, Mika, Kajantie, Eero, Kardia, Sharon L R, Keavney, Bernard, Kolcic, Ivana, Koponen, Päivikki, Kovacs, Peter, Kronenberg, Florian, Kutalik, Zoltan, La Bianca, Martina, Lachance, Genevieve, Iacono, William G, Lai, Sandra, Lehtimäki, Terho, Liewald, David C, Lindgren, Cecilia M, Liu, Yongmei, Luben, Robert, Lucht, Michael, Luoto, Riitta, Magnus, Per, Magnusson, Patrik K E, Martin, Nicholas G, McGue, Matt, McQuillan, Ruth, Medland, Sarah E, Meisinger, Christa, Mellström, Dan, Metspalu, Andres, Traglia, Michela, Milani, Lili, Mitchell, Paul, Montgomery, Grant W, Mook-Kanamori, Dennis, de Mutsert, Renée, Nohr, Ellen A, Ohlsson, Claes, Olsen, Jørn, Ong, Ken K, Paternoster, Lavinia, Pattie, Alison, Penninx, Brenda W J H, Perola, Markus, Peyser, Patricia A, Pirastu, Mario, Polasek, Ozren, Power, Chris, Kaprio, Jaakko, Raffel, Leslie J, Räikkönen, Katri, Raitakari, Olli, Ridker, Paul M, Ring, Susan M, Roll, Kathryn, Rudan, Igor, Ruggiero, Daniela, Rujescu, Dan, Salomaa, Veikko, Schlessinger, David, Schmidt, Helena, Schmidt, Reinhold, Schupf, Nicole, Smit, Johannes, Sorice, Rossella, Spector, Tim D, Starr, John M, Stöckl, Doris, Strauch, Konstantin, Stumvoll, Michael, Swertz, Morris A, Thorsteinsdottir, Unnur, Thurik, A Roy, Timpson, Nicholas J, Tung, Joyce Y, Uitterlinden, André G, Vaccargiu, Simona, Viikari, Jorma, Vitart, Veronique, Völzke, Henry, Vollenweider, Peter, Vuckovic, Dragana, Waage, Johannes, Wagner, Gert G, Wang, Jie Jin, Wareham, Nicholas J, Weir, David R, Willemsen, Gonneke, Willeit, Johann, Wright, Alan F, Zondervan, Krina T, Stefansson, Kari, Krueger, Robert F, Lee, James J, Benjamin, Daniel J, Cesarini, David, Koellinger, Philipp D, den Hoed, Marcel, Snieder, Harold, and Mills, Melinda C
Abstract: The genetic architecture of human reproductive behavior—age at first birth (AFB) and number of children ever born (NEB)—has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.
Published: 2016
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20. Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Author: Heid, Iris M, primary, Jackson, Anne U, additional, Randall, Joshua C, additional, Winkler, Thomas W, additional, Qi, Lu, additional, Steinthorsdottir, Valgerdur, additional, Thorleifsson, Gudmar, additional, Zillikens, M Carola, additional, Speliotes, Elizabeth K, additional, Mägi, Reedik, additional, Workalemahu, Tsegaselassie, additional, White, Charles C, additional, Bouatia-Naji, Nabila, additional, Harris, Tamara B, additional, Berndt, Sonja I, additional, Ingelsson, Erik, additional, Willer, Cristen J, additional, Weedon, Michael N, additional, Luan, Jian'an, additional, Vedantam, Sailaja, additional, Esko, Tõnu, additional, Kilpeläinen, Tuomas O, additional, Kutalik, Zoltán, additional, Li, Shengxu, additional, Monda, Keri L, additional, Dixon, Anna L, additional, Holmes, Christopher C, additional, Kaplan, Lee M, additional, Liang, Liming, additional, Min, Josine L, additional, Moffatt, Miriam F, additional, Molony, Cliona, additional, Nicholson, George, additional, Schadt, Eric E, additional, Zondervan, Krina T, additional, Feitosa, Mary F, additional, Ferreira, Teresa, additional, Allen, Hana Lango, additional, Weyant, Robert J, additional, Wheeler, Eleanor, additional, Wood, Andrew R, additional, Estrada, Karol, additional, Goddard, Michael E, additional, Lettre, Guillaume, additional, Mangino, Massimo, additional, Nyholt, Dale R, additional, Purcell, Shaun, additional, Vernon Smith, Albert, additional, Visscher, Peter M, additional, Yang, Jian, additional, McCarroll, Steven A, additional, Nemesh, James, additional, Voight, Benjamin F, additional, Absher, Devin, additional, Amin, Najaf, additional, Aspelund, Thor, additional, Coin, Lachlan, additional, Glazer, Nicole L, additional, Hayward, Caroline, additional, Heard-Costa, Nancy L, additional, Hottenga, Jouke-Jan, additional, Johansson, Åsa, additional, Johnson, Toby, additional, Kaakinen, Marika, additional, Kapur, Karen, additional, Ketkar, Shamika, additional, Knowles, Joshua W, additional, Kraft, Peter, additional, Kraja, Aldi T, additional, Lamina, Claudia, additional, Leitzmann, Michael F, additional, McKnight, Barbara, additional, Morris, Andrew P, additional, Ong, Ken K, additional, Perry, John R B, additional, Peters, Marjolein J, additional, Polasek, Ozren, additional, Prokopenko, Inga, additional, Rayner, Nigel W, additional, Ripatti, Samuli, additional, Rivadeneira, Fernando, additional, Robertson, Neil R, additional, Sanna, Serena, additional, Sovio, Ulla, additional, Surakka, Ida, additional, Teumer, Alexander, additional, van Wingerden, Sophie, additional, Vitart, Veronique, additional, Zhao, Jing Hua, additional, Cavalcanti-Proença, Christine, additional, Chines, Peter S, additional, Fisher, Eva, additional, Kulzer, Jennifer R, additional, Lecoeur, Cecile, additional, Narisu, Narisu, additional, Sandholt, Camilla, additional, Scott, Laura J, additional, Silander, Kaisa, additional, Stark, Klaus, additional, Tammesoo, Mari-Liis, additional, Teslovich, Tanya M, additional, Timpson, Nicholas John, additional, Watanabe, Richard M, additional, Welch, Ryan, additional, Chasman, Daniel I, additional, Cooper, Matthew N, additional, Jansson, John-Olov, additional, Kettunen, Johannes, additional, Lawrence, Robert W, additional, Pellikka, Niina, additional, Perola, Markus, additional, Vandenput, Liesbeth, additional, Alavere, Helene, additional, Almgren, Peter, additional, Atwood, Larry D, additional, Bennett, Amanda J, additional, Biffar, Reiner, additional, Bonnycastle, Lori L, additional, Bornstein, Stefan R, additional, Buchanan, Thomas A, additional, Campbell, Harry, additional, Day, Ian N M, additional, Dei, Mariano, additional, Dörr, Marcus, additional, Elliott, Paul, additional, Erdos, Michael R, additional, Eriksson, Johan G, additional, Freimer, Nelson B, additional, Fu, Mao, additional, Gaget, Stefan, additional, Geus, Eco J C, additional, Gjesing, Anette P, additional, Grallert, Harald, additional, Gräßler, Jürgen, additional, Groves, Christopher J, additional, Guiducci, Candace, additional, Hartikainen, Anna-Liisa, additional, Hassanali, Neelam, additional, Havulinna, Aki S, additional, Herzig, Karl-Heinz, additional, Hicks, Andrew A, additional, Hui, Jennie, additional, Igl, Wilmar, additional, Jousilahti, Pekka, additional, Jula, Antti, additional, Kajantie, Eero, additional, Kinnunen, Leena, additional, Kolcic, Ivana, additional, Koskinen, Seppo, additional, Kovacs, Peter, additional, Kroemer, Heyo K, additional, Krzelj, Vjekoslav, additional, Kuusisto, Johanna, additional, Kvaloy, Kirsti, additional, Laitinen, Jaana, additional, Lantieri, Olivier, additional, Lathrop, G Mark, additional, Lokki, Marja-Liisa, additional, Luben, Robert N, additional, Ludwig, Barbara, additional, McArdle, Wendy L, additional, McCarthy, Anne, additional, Morken, Mario A, additional, Nelis, Mari, additional, Neville, Matt J, additional, Paré, Guillaume, additional, Parker, Alex N, additional, Peden, John F, additional, Pichler, Irene, additional, Pietiläinen, Kirsi H, additional, Platou, Carl G P, additional, Pouta, Anneli, additional, Ridderstråle, Martin, additional, Samani, Nilesh J, additional, Saramies, Jouko, additional, Sinisalo, Juha, additional, Smit, Jan H, additional, Strawbridge, Rona J, additional, Stringham, Heather M, additional, Swift, Amy J, additional, Teder-Laving, Maris, additional, Thomson, Brian, additional, Usala, Gianluca, additional, van Meurs, Joyce B J, additional, van Ommen, Gert-Jan, additional, Vatin, Vincent, additional, Volpato, Claudia B, additional, Wallaschofski, Henri, additional, Walters, G Bragi, additional, Widen, Elisabeth, additional, Wild, Sarah H, additional, Willemsen, Gonneke, additional, Witte, Daniel R, additional, Zgaga, Lina, additional, Zitting, Paavo, additional, Beilby, John P, additional, James, Alan L, additional, Kähönen, Mika, additional, Lehtimäki, Terho, additional, Nieminen, Markku S, additional, Ohlsson, Claes, additional, Palmer, Lyle J, additional, Raitakari, Olli, additional, Ridker, Paul M, additional, Stumvoll, Michael, additional, Tönjes, Anke, additional, Viikari, Jorma, additional, Balkau, Beverley, additional, Ben-Shlomo, Yoav, additional, Bergman, Richard N, additional, Boeing, Heiner, additional, Smith, George Davey, additional, Ebrahim, Shah, additional, Froguel, Philippe, additional, Hansen, Torben, additional, Hengstenberg, Christian, additional, Hveem, Kristian, additional, Isomaa, Bo, additional, Jørgensen, Torben, additional, Karpe, Fredrik, additional, Khaw, Kay-Tee, additional, Laakso, Markku, additional, Lawlor, Debbie A, additional, Marre, Michel, additional, Meitinger, Thomas, additional, Metspalu, Andres, additional, Midthjell, Kristian, additional, Pedersen, Oluf, additional, Salomaa, Veikko, additional, Schwarz, Peter E H, additional, Tuomi, Tiinamaija, additional, Tuomilehto, Jaakko, additional, Valle, Timo T, additional, Wareham, Nicholas J, additional, Arnold, Alice M, additional, Beckmann, Jacques S, additional, Bergmann, Sven, additional, Boerwinkle, Eric, additional, Boomsma, Dorret I, additional, Caulfield, Mark J, additional, Collins, Francis S, additional, Eiriksdottir, Gudny, additional, Gudnason, Vilmundur, additional, Gyllensten, Ulf, additional, Hamsten, Anders, additional, Hattersley, Andrew T, additional, Hofman, Albert, additional, Hu, Frank B, additional, Illig, Thomas, additional, Iribarren, Carlos, additional, Jarvelin, Marjo-Riitta, additional, Kao, W H Linda, additional, Kaprio, Jaakko, additional, Launer, Lenore J, additional, Munroe, Patricia B, additional, Oostra, Ben, additional, Penninx, Brenda W, additional, Pramstaller, Peter P, additional, Psaty, Bruce M, additional, Quertermous, Thomas, additional, Rissanen, Aila, additional, Rudan, Igor, additional, Shuldiner, Alan R, additional, Soranzo, Nicole, additional, Spector, Timothy D, additional, Syvanen, Ann-Christine, additional, Uda, Manuela, additional, Uitterlinden, André, additional, Völzke, Henry, additional, Vollenweider, Peter, additional, Wilson, James F, additional, Witteman, Jacqueline C, additional, Wright, Alan F, additional, Abecasis, Gonçalo R, additional, Boehnke, Michael, additional, Borecki, Ingrid B, additional, Deloukas, Panos, additional, Frayling, Timothy M, additional, Groop, Leif C, additional, Haritunians, Talin, additional, Hunter, David J, additional, Kaplan, Robert C, additional, North, Kari E, additional, O'Connell, Jeffrey R, additional, Peltonen, Leena, additional, Schlessinger, David, additional, Strachan, David P, additional, Hirschhorn, Joel N, additional, Assimes, Themistocles L, additional, Wichmann, H-Erich, additional, Thorsteinsdottir, Unnur, additional, van Duijn, Cornelia M, additional, Stefansson, Kari, additional, Cupples, L Adrienne, additional, Loos, Ruth J F, additional, Barroso, Inês, additional, McCarthy, Mark I, additional, Fox, Caroline S, additional, Mohlke, Karen L, additional, and Lindgren, Cecilia M, additional
Published: 2011
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21. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Author: Dupuis, Josée, primary, Langenberg, Claudia, additional, Prokopenko, Inga, additional, Saxena, Richa, additional, Soranzo, Nicole, additional, Jackson, Anne U, additional, Wheeler, Eleanor, additional, Glazer, Nicole L, additional, Bouatia-Naji, Nabila, additional, Gloyn, Anna L, additional, Lindgren, Cecilia M, additional, Mägi, Reedik, additional, Morris, Andrew P, additional, Randall, Joshua, additional, Johnson, Toby, additional, Elliott, Paul, additional, Rybin, Denis, additional, Thorleifsson, Gudmar, additional, Steinthorsdottir, Valgerdur, additional, Henneman, Peter, additional, Grallert, Harald, additional, Dehghan, Abbas, additional, Hottenga, Jouke Jan, additional, Franklin, Christopher S, additional, Navarro, Pau, additional, Song, Kijoung, additional, Goel, Anuj, additional, Perry, John R B, additional, Egan, Josephine M, additional, Lajunen, Taina, additional, Grarup, Niels, additional, Sparsø, Thomas, additional, Doney, Alex, additional, Voight, Benjamin F, additional, Stringham, Heather M, additional, Li, Man, additional, Kanoni, Stavroula, additional, Shrader, Peter, additional, Cavalcanti-Proença, Christine, additional, Kumari, Meena, additional, Qi, Lu, additional, Timpson, Nicholas J, additional, Gieger, Christian, additional, Zabena, Carina, additional, Rocheleau, Ghislain, additional, Ingelsson, Erik, additional, An, Ping, additional, O'Connell, Jeffrey, additional, Luan, Jian'an, additional, Elliott, Amanda, additional, McCarroll, Steven A, additional, Payne, Felicity, additional, Roccasecca, Rosa Maria, additional, Pattou, François, additional, Sethupathy, Praveen, additional, Ardlie, Kristin, additional, Ariyurek, Yavuz, additional, Balkau, Beverley, additional, Barter, Philip, additional, Beilby, John P, additional, Ben-Shlomo, Yoav, additional, Benediktsson, Rafn, additional, Bennett, Amanda J, additional, Bergmann, Sven, additional, Bochud, Murielle, additional, Boerwinkle, Eric, additional, Bonnefond, Amélie, additional, Bonnycastle, Lori L, additional, Borch-Johnsen, Knut, additional, Böttcher, Yvonne, additional, Brunner, Eric, additional, Bumpstead, Suzannah J, additional, Charpentier, Guillaume, additional, Chen, Yii-Der Ida, additional, Chines, Peter, additional, Clarke, Robert, additional, Coin, Lachlan J M, additional, Cooper, Matthew N, additional, Cornelis, Marilyn, additional, Crawford, Gabe, additional, Crisponi, Laura, additional, Day, Ian N M, additional, de Geus, Eco J C, additional, Delplanque, Jerome, additional, Dina, Christian, additional, Erdos, Michael R, additional, Fedson, Annette C, additional, Fischer-Rosinsky, Antje, additional, Forouhi, Nita G, additional, Fox, Caroline S, additional, Frants, Rune, additional, Franzosi, Maria Grazia, additional, Galan, Pilar, additional, Goodarzi, Mark O, additional, Graessler, Jürgen, additional, Groves, Christopher J, additional, Grundy, Scott, additional, Gwilliam, Rhian, additional, Gyllensten, Ulf, additional, Hadjadj, Samy, additional, Hallmans, Göran, additional, Hammond, Naomi, additional, Han, Xijing, additional, Hartikainen, Anna-Liisa, additional, Hassanali, Neelam, additional, Hayward, Caroline, additional, Heath, Simon C, additional, Hercberg, Serge, additional, Herder, Christian, additional, Hicks, Andrew A, additional, Hillman, David R, additional, Hingorani, Aroon D, additional, Hofman, Albert, additional, Hui, Jennie, additional, Hung, Joe, additional, Isomaa, Bo, additional, Johnson, Paul R V, additional, Jørgensen, Torben, additional, Jula, Antti, additional, Kaakinen, Marika, additional, Kaprio, Jaakko, additional, Kesaniemi, Y Antero, additional, Kivimaki, Mika, additional, Knight, Beatrice, additional, Koskinen, Seppo, additional, Kovacs, Peter, additional, Kyvik, Kirsten Ohm, additional, Lathrop, G Mark, additional, Lawlor, Debbie A, additional, Le Bacquer, Olivier, additional, Lecoeur, Cécile, additional, Li, Yun, additional, Lyssenko, Valeriya, additional, Mahley, Robert, additional, Mangino, Massimo, additional, Manning, Alisa K, additional, Martínez-Larrad, María Teresa, additional, McAteer, Jarred B, additional, McCulloch, Laura J, additional, McPherson, Ruth, additional, Meisinger, Christa, additional, Melzer, David, additional, Meyre, David, additional, Mitchell, Braxton D, additional, Morken, Mario A, additional, Mukherjee, Sutapa, additional, Naitza, Silvia, additional, Narisu, Narisu, additional, Neville, Matthew J, additional, Oostra, Ben A, additional, Orrù, Marco, additional, Pakyz, Ruth, additional, Palmer, Colin N A, additional, Paolisso, Giuseppe, additional, Pattaro, Cristian, additional, Pearson, Daniel, additional, Peden, John F, additional, Pedersen, Nancy L, additional, Perola, Markus, additional, Pfeiffer, Andreas F H, additional, Pichler, Irene, additional, Polasek, Ozren, additional, Posthuma, Danielle, additional, Potter, Simon C, additional, Pouta, Anneli, additional, Province, Michael A, additional, Psaty, Bruce M, additional, Rathmann, Wolfgang, additional, Rayner, Nigel W, additional, Rice, Kenneth, additional, Ripatti, Samuli, additional, Rivadeneira, Fernando, additional, Roden, Michael, additional, Rolandsson, Olov, additional, Sandbaek, Annelli, additional, Sandhu, Manjinder, additional, Sanna, Serena, additional, Sayer, Avan Aihie, additional, Scheet, Paul, additional, Scott, Laura J, additional, Seedorf, Udo, additional, Sharp, Stephen J, additional, Shields, Beverley, additional, SigurÐsson, Gunnar, additional, Sijbrands, Eric J G, additional, Silveira, Angela, additional, Simpson, Laila, additional, Singleton, Andrew, additional, Smith, Nicholas L, additional, Sovio, Ulla, additional, Swift, Amy, additional, Syddall, Holly, additional, Syvänen, Ann-Christine, additional, Tanaka, Toshiko, additional, Thorand, Barbara, additional, Tichet, Jean, additional, Tönjes, Anke, additional, Tuomi, Tiinamaija, additional, Uitterlinden, André G, additional, van Dijk, Ko Willems, additional, van Hoek, Mandy, additional, Varma, Dhiraj, additional, Visvikis-Siest, Sophie, additional, Vitart, Veronique, additional, Vogelzangs, Nicole, additional, Waeber, Gérard, additional, Wagner, Peter J, additional, Walley, Andrew, additional, Walters, G Bragi, additional, Ward, Kim L, additional, Watkins, Hugh, additional, Weedon, Michael N, additional, Wild, Sarah H, additional, Willemsen, Gonneke, additional, Witteman, Jaqueline C M, additional, Yarnell, John W G, additional, Zeggini, Eleftheria, additional, Zelenika, Diana, additional, Zethelius, Björn, additional, Zhai, Guangju, additional, Zhao, Jing Hua, additional, Zillikens, M Carola, additional, Consortium, DIAGRAM, additional, Consortium, GIANT, additional, Consortium, Global BPgen, additional, Borecki, Ingrid B, additional, Loos, Ruth J F, additional, Meneton, Pierre, additional, Magnusson, Patrik K E, additional, Nathan, David M, additional, Williams, Gordon H, additional, Hattersley, Andrew T, additional, Silander, Kaisa, additional, Salomaa, Veikko, additional, Smith, George Davey, additional, Bornstein, Stefan R, additional, Schwarz, Peter, additional, Spranger, Joachim, additional, Karpe, Fredrik, additional, Shuldiner, Alan R, additional, Cooper, Cyrus, additional, Dedoussis, George V, additional, Serrano-Ríos, Manuel, additional, Morris, Andrew D, additional, Lind, Lars, additional, Palmer, Lyle J, additional, Hu, Frank B, additional, Franks, Paul W, additional, Ebrahim, Shah, additional, Marmot, Michael, additional, Kao, W H Linda, additional, Pankow, James S, additional, Sampson, Michael J, additional, Kuusisto, Johanna, additional, Laakso, Markku, additional, Hansen, Torben, additional, Pedersen, Oluf, additional, Pramstaller, Peter Paul, additional, Wichmann, H Erich, additional, Illig, Thomas, additional, Rudan, Igor, additional, Wright, Alan F, additional, Stumvoll, Michael, additional, Campbell, Harry, additional, Wilson, James F, additional, Hamsten, Anders, additional, Bergman, Richard N, additional, Buchanan, Thomas A, additional, Collins, Francis S, additional, Mohlke, Karen L, additional, Tuomilehto, Jaakko, additional, Valle, Timo T, additional, Altshuler, David, additional, Rotter, Jerome I, additional, Siscovick, David S, additional, Penninx, Brenda W J H, additional, Boomsma, Dorret I, additional, Deloukas, Panos, additional, Spector, Timothy D, additional, Frayling, Timothy M, additional, Ferrucci, Luigi, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, Stefansson, Kari, additional, van Duijn, Cornelia M, additional, Aulchenko, Yurii S, additional, Cao, Antonio, additional, Scuteri, Angelo, additional, Schlessinger, David, additional, Uda, Manuela, additional, Ruokonen, Aimo, additional, Jarvelin, Marjo-Riitta, additional, Waterworth, Dawn M, additional, Vollenweider, Peter, additional, Peltonen, Leena, additional, Mooser, Vincent, additional, Abecasis, Goncalo R, additional, Wareham, Nicholas J, additional, Sladek, Robert, additional, Froguel, Philippe, additional, Watanabe, Richard M, additional, Meigs, James B, additional, Groop, Leif, additional, Boehnke, Michael, additional, McCarthy, Mark I, additional, Florez, Jose C, additional, and Barroso, Inês, additional
Published: 2010
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22. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Author: Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S, Palta, Priit, Esko, Tonu, Pers, Tune H, Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda W J H, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Ikram, M Arfan, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M J M, Zwart, John-Anker, Boomsma, Dorret I, Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, and Palotie, Aarno
Abstract: Migraine is a debilitating neurological disorder affecting around one in seven people worldwide, but its molecular mechanisms remain poorly understood. There is some debate about whether migraine is a disease of vascular dysfunction or a result of neuronal dysfunction with secondary vascular changes. Genome-wide association (GWA) studies have thus far identified 13 independent loci associated with migraine. To identify new susceptibility loci, we carried out a genetic study of migraine on 59,674 affected subjects and 316,078 controls from 22 GWA studies. We identified 44 independent single-nucleotide polymorphisms (SNPs) significantly associated with migraine risk (P < 5 × 10−8) that mapped to 38 distinct genomic loci, including 28 loci not previously reported and a locus that to our knowledge is the first to be identified on chromosome X. In subsequent computational analyses, the identified loci showed enrichment for genes expressed in vascular and smooth muscle tissues, consistent with a predominant theory of migraine that highlights vascular etiologies.
Published: 2016
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23. Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

Author: Okbay, Aysu, Baselmans, Bart M L, De Neve, Jan-Emmanuel, Turley, Patrick, Nivard, Michel G, Fontana, Mark Alan, Meddens, S Fleur W, Linnér, Richard Karlsson, Rietveld, Cornelius A, Derringer, Jaime, Gratten, Jacob, Lee, James J, Liu, Jimmy Z, de Vlaming, Ronald, Ahluwalia, Tarunveer S, Buchwald, Jadwiga, Cavadino, Alana, Frazier-Wood, Alexis C, Furlotte, Nicholas A, Garfield, Victoria, Geisel, Marie Henrike, Gonzalez, Juan R, Haitjema, Saskia, Karlsson, Robert, van der Laan, Sander W, Ladwig, Karl-Heinz, Lahti, Jari, van der Lee, Sven J, Lind, Penelope A, Liu, Tian, Matteson, Lindsay, Mihailov, Evelin, Miller, Michael B, Minica, Camelia C, Nolte, Ilja M, Mook-Kanamori, Dennis, van der Most, Peter J, Oldmeadow, Christopher, Qian, Yong, Raitakari, Olli, Rawal, Rajesh, Realo, Anu, Rueedi, Rico, Schmidt, Börge, Smith, Albert V, Stergiakouli, Evie, Tanaka, Toshiko, Taylor, Kent, Wedenoja, Juho, Wellmann, Juergen, Westra, Harm-Jan, Willems, Sara M, Zhao, Wei, Amin, Najaf, Bakshi, Andrew, Boyle, Patricia A, Cherney, Samantha, Cox, Simon R, Davies, Gail, Davis, Oliver S P, Ding, Jun, Direk, Nese, Eibich, Peter, Emeny, Rebecca T, Fatemifar, Ghazaleh, Faul, Jessica D, Ferrucci, Luigi, Forstner, Andreas, Gieger, Christian, Gupta, Richa, Harris, Tamara B, Harris, Juliette M, Holliday, Elizabeth G, Hottenga, Jouke-Jan, De Jager, Philip L, Kaakinen, Marika A, Kajantie, Eero, Karhunen, Ville, Kolcic, Ivana, Kumari, Meena, Launer, Lenore J, Franke, Lude, Li-Gao, Ruifang, Koini, Marisa, Loukola, Anu, Marques-Vidal, Pedro, Montgomery, Grant W, Mosing, Miriam A, Paternoster, Lavinia, Pattie, Alison, Petrovic, Katja E, Pulkki-Råback, Laura, Quaye, Lydia, Räikkönen, Katri, Rudan, Igor, Scott, Rodney J, Smith, Jennifer A, Sutin, Angelina R, Trzaskowski, Maciej, Vinkhuyzen, Anna E, Yu, Lei, Zabaneh, Delilah, Attia, John R, Bennett, David A, Berger, Klaus, Bertram, Lars, Boomsma, Dorret I, Snieder, Harold, Chang, Shun-Chiao, Cucca, Francesco, Deary, Ian J, van Duijn, Cornelia M, Eriksson, Johan G, Bültmann, Ute, de Geus, Eco J C, Groenen, Patrick J F, Gudnason, Vilmundur, Hansen, Torben, Hartman, Catharine A, Haworth, Claire M A, Hayward, Caroline, Heath, Andrew C, Hinds, David A, Hyppönen, Elina, Iacono, William G, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L R, Keltikangas-Järvinen, Liisa, Kraft, Peter, Kubzansky, Laura D, Lehtimäki, Terho, Magnusson, Patrik K E, Martin, Nicholas G, McGue, Matt, Metspalu, Andres, Mills, Melinda, de Mutsert, Renée, Oldehinkel, Albertine J, Pasterkamp, Gerard, Pedersen, Nancy L, Plomin, Robert, Polasek, Ozren, Power, Christine, Rich, Stephen S, Rosendaal, Frits R, den Ruijter, Hester M, Schlessinger, David, Schmidt, Helena, Svento, Rauli, Schmidt, Reinhold, Alizadeh, Behrooz Z, Sørensen, Thorkild I A, Spector, Tim D, Steptoe, Andrew, Terracciano, Antonio, Thurik, A Roy, Timpson, Nicholas J, Tiemeier, Henning, Uitterlinden, André G, Vollenweider, Peter, Wagner, Gert G, Weir, David R, Yang, Jian, Conley, Dalton C, Smith, George Davey, Hofman, Albert, Johannesson, Magnus, Laibson, David I, Medland, Sarah E, Meyer, Michelle N, Pickrell, Joseph K, Esko, Tõnu, Krueger, Robert F, Beauchamp, Jonathan P, Koellinger, Philipp D, Benjamin, Daniel J, Bartels, Meike, and Cesarini, David
Abstract: Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (|ρ^| ≈ 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.
Published: 2016
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24. A region on chromosome 3 is linked to dizygotic twinning

Author: Busjahn, Andreas, primary, Knoblauch, Hans, additional, Faulhaber, Hans-Dieter, additional, Aydin, Atakan, additional, Uhlmann, Regina, additional, Tuomilehto, Jaakko, additional, Kaprio, Jaakko, additional, Jedrusik, Piotr, additional, Januszewicz, Andrzej, additional, Strelau, Jan, additional, Schuster, Herbert, additional, Luft, Friedrich C., additional, and Müller-Myhsok, Bertram, additional
Published: 2000
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25. Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Author: Waage, Johannes, Standl, Marie, Curtin, John A., Jessen, Leon E., Thorsen, Jonathan, Tian, Chao, Schoettler, Nathan, Flores, Carlos, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Alves, Alexessander C., Amaral, Andre F. S., Antó, Josep M., Arnold, Andreas, Barreto-Luis, Amalia, Baurecht, Hansjörg, van Beijsterveldt, Catharina E. M., Bleecker, Eugene R., Bonàs-Guarch, Sílvia, Boomsma, Dorret I., Brix, Susanne, Bunyavanich, Supinda, Burchard, Esteban G., Chen, Zhanghua, Curjuric, Ivan, Custovic, Adnan, den Dekker, Herman T., Dharmage, Shyamali C., Dmitrieva, Julia, Duijts, Liesbeth, Ege, Markus J., Gauderman, W. James, Georges, Michel, Gieger, Christian, Gilliland, Frank, Granell, Raquel, Gui, Hongsheng, Hansen, Torben, Heinrich, Joachim, Henderson, John, Hernandez-Pacheco, Natalia, Holt, Patrick, Imboden, Medea, Jaddoe, Vincent W. V., Jarvelin, Marjo-Riitta, Jarvis, Deborah L., Jensen, Kamilla K., Jónsdóttir, Ingileif, Kabesch, Michael, Kaprio, Jaakko, Kumar, Ashish, Lee, Young-Ae, Levin, Albert M., Li, Xingnan, Lorenzo-Diaz, Fabian, Melén, Erik, Mercader, Josep M., Meyers, Deborah A., Myers, Rachel, Nicolae, Dan L., Nohr, Ellen A., Palviainen, Teemu, Paternoster, Lavinia, Pennell, Craig E., Pershagen, Göran, Pino-Yanes, Maria, Probst-Hensch, Nicole M., Rüschendorf, Franz, Simpson, Angela, Stefansson, Kari, Sunyer, Jordi, Sveinbjornsson, Gardar, Thiering, Elisabeth, Thompson, Philip J., Torrent, Maties, Torrents, David, Tung, Joyce Y., Wang, Carol A., Weidinger, Stephan, Weiss, Scott, Willemsen, Gonneke, Williams, L. Keoki, Ober, Carole, Hinds, David A., Ferreira, Manuel A., Bisgaard, Hans, Strachan, David P., and Bønnelykke, Klaus
Abstract: In the version of this article initially published, in Fig. 3, the y-axis numbering did not match the log scale indicated in the axis label. The error has been corrected in the HTML and PDF version of the article.
Published: 2018
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26. Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

Author: Okbay, Aysu, Baselmans, Bart M L, De Neve, Jan-Emmanuel, Turley, Patrick, Nivard, Michel G, Fontana, Mark Alan, Meddens, S Fleur W, Linnér, Richard Karlsson, Rietveld, Cornelius A, Derringer, Jaime, Gratten, Jacob, Lee, James J, Liu, Jimmy Z, de Vlaming, Ronald, Ahluwalia, Tarunveer S, Buchwald, Jadwiga, Cavadino, Alana, Frazier-Wood, Alexis C, Furlotte, Nicholas A, Garfield, Victoria, Geisel, Marie Henrike, Gonzalez, Juan R, Haitjema, Saskia, Karlsson, Robert, van der Laan, Sander W, Ladwig, Karl-Heinz, Lahti, Jari, van der Lee, Sven J, Lind, Penelope A, Liu, Tian, Matteson, Lindsay, Mihailov, Evelin, Miller, Michael B, Minica, Camelia C, Nolte, Ilja M, Mook-Kanamori, Dennis, van der Most, Peter J, Oldmeadow, Christopher, Qian, Yong, Raitakari, Olli, Rawal, Rajesh, Realo, Anu, Rueedi, Rico, Schmidt, Börge, Smith, Albert V, Stergiakouli, Evie, Tanaka, Toshiko, Taylor, Kent, Thorleifsson, Gudmar, Wedenoja, Juho, Wellmann, Juergen, Westra, Harm-Jan, Willems, Sara M, Zhao, Wei, Amin, Najaf, Bakshi, Andrew, Bergmann, Sven, Bjornsdottir, Gyda, Boyle, Patricia A, Cherney, Samantha, Cox, Simon R, Davies, Gail, Davis, Oliver S P, Ding, Jun, Direk, Nese, Eibich, Peter, Emeny, Rebecca T, Fatemifar, Ghazaleh, Faul, Jessica D, Ferrucci, Luigi, Forstner, Andreas J, Gieger, Christian, Gupta, Richa, Harris, Tamara B, Harris, Juliette M, Holliday, Elizabeth G, Hottenga, Jouke-Jan, De Jager, Philip L, Kaakinen, Marika A, Kajantie, Eero, Karhunen, Ville, Kolcic, Ivana, Kumari, Meena, Launer, Lenore J, Franke, Lude, Li-Gao, Ruifang, Liewald, David C, Koini, Marisa, Loukola, Anu, Marques-Vidal, Pedro, Montgomery, Grant W, Mosing, Miriam A, Paternoster, Lavinia, Pattie, Alison, Petrovic, Katja E, Pulkki-Råback, Laura, Quaye, Lydia, Räikkönen, Katri, Rudan, Igor, Scott, Rodney J, Smith, Jennifer A, Sutin, Angelina R, Trzaskowski, Maciej, Vinkhuyzen, Anna E, Yu, Lei, Zabaneh, Delilah, Attia, John R, Bennett, David A, Berger, Klaus, Bertram, Lars, Boomsma, Dorret I, Snieder, Harold, Chang, Shun-Chiao, Cucca, Francesco, Deary, Ian J, van Duijn, Cornelia M, Eriksson, Johan G, Bültmann, Ute, de Geus, Eco J C, Groenen, Patrick J F, Gudnason, Vilmundur, Hansen, Torben, Hartman, Catharine A, Haworth, Claire M A, Hayward, Caroline, Heath, Andrew C, Hinds, David A, Hyppönen, Elina, William, William G, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L R, Keltikangas-Järvinen, Liisa, Kraft, Peter, Kubzansky, Laura D, Lehtimäki, Terho, Magnusson, Patrik K E, Martin, Nicholas G, McGue, Matt, Metspalu, Andres, Mills, Melinda, de Mutsert, Renée, Oldehinkel, Albertine J, Pasterkamp, Gerard, Pedersen, Nancy L, Plomin, Robert, Polasek, Ozren, Power, Christine, Rich, Stephen S, Rosendaal, Frits R, den Ruijter, Hester M, Schlessinger, David, Schmidt, Helena, Svento, Rauli, Schmidt, Reinhold, Alizadeh, Behrooz Z, Sørensen, Thorkild I A, Spector, Tim D, Starr, John M, Stefansson, Kari, Steptoe, Andrew, Terracciano, Antonio, Thorsteinsdottir, Unnur, Thurik, A Roy, Timpson, Nicholas J, Tiemeier, Henning, Uitterlinden, André G, Vollenweider, Peter, Wagner, Gert G, Weir, David R, Yang, Jian, Conley, Dalton C, Smith, George Davey, Hofman, Albert, Johannesson, Magnus, Laibson, David I, Medland, Sarah E, Meyer, Michelle N, Pickrell, Joseph K, Esko, Tõnu, Krueger, Robert F, Beauchamp, Jonathan P, Koellinger, Philipp D, Benjamin, Daniel J, Bartels, Meike, and Cesarini, David
Published: 2016
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27. Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Author: Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S, Palta, Priit, Esko, Tonu, Pers, Tune H, Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda W J H, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Ikram, M Arfan, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M J M, Zwart, John-Anker, Boomsma, Dorret I, Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, and Palotie, Aarno
Published: 2016
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28. The impact of low-frequency and rare variants on lipid levels.

Author: Surakka I, Horikoshi M, Mägi R, Sarin AP, Mahajan A, Lagou V, Marullo L, Ferreira T, Miraglio B, Timonen S, Kettunen J, Pirinen M, Karjalainen J, Thorleifsson G, Hägg S, Hottenga JJ, Isaacs A, Ladenvall C, Beekman M, Esko T, Ried JS, Nelson CP, Willenborg C, Gustafsson S, Westra HJ, Blades M, de Craen AJ, de Geus EJ, Deelen J, Grallert H, Hamsten A, Havulinna AS, Hengstenberg C, Houwing-Duistermaat JJ, Hyppönen E, Karssen LC, Lehtimäki T, Lyssenko V, Magnusson PK, Mihailov E, Müller-Nurasyid M, Mpindi JP, Pedersen NL, Penninx BW, Perola M, Pers TH, Peters A, Rung J, Smit JH, Steinthorsdottir V, Tobin MD, Tsernikova N, van Leeuwen EM, Viikari JS, Willems SM, Willemsen G, Schunkert H, Erdmann J, Samani NJ, Kaprio J, Lind L, Gieger C, Metspalu A, Slagboom PE, Groop L, van Duijn CM, Eriksson JG, Jula A, Salomaa V, Boomsma DI, Power C, Raitakari OT, Ingelsson E, Järvelin MR, Thorsteinsdottir U, Franke L, Ikonen E, Kallioniemi O, Pietiäinen V, Lindgren CM, Stefansson K, Palotie A, McCarthy MI, Morris AP, Prokopenko I, and Ripatti S
Subjects: Dyslipidemias genetics, Gene Frequency, Genetic Loci, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mutation, Missense, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Lipid Metabolism genetics
Abstract: Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics (CELSR2, GCKR, LIPC and APOE) or candidate missense mutations with predicted damaging function (CD300LG and TM6SF2) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.
Published: 2015
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29. Defining the role of common variation in the genomic and biological architecture of adult human height.

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

Author: Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkilä K, Hyppönen E, Isaacs A, Jackson AU, Johansson Å, Johnson T, Kaakinen M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikäinen LP, Magnusson PKE, Mangino M, Mihailov E, Montasser ME, Müller-Nurasyid M, Nolte IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ, Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Döring A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M, Langenberg C, Lehtimäki T, Lin SY, Lindström J, Loos RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Müller G, Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK, Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J, Silander K, Stančáková A, Stirrups K, Swift AJ, Tiret L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH, Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS, Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrières J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C, Järvelin MR, Jula A, Kähönen M, Kaprio J, Kesäniemi A, Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, März W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD, Munroe PB, Njølstad I, Pedersen NL, Power C, Pramstaller PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P, Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E, and Abecasis GR
Subjects: Asian People genetics, Black People genetics, Cholesterol, HDL blood, Cholesterol, HDL genetics, Cholesterol, LDL blood, Cholesterol, LDL genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Triglycerides blood, Triglycerides genetics, White People genetics, Coronary Artery Disease blood, Coronary Artery Disease genetics, Lipids blood, Lipids genetics
Abstract: Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188,577 individuals using genome-wide and custom genotyping arrays. We identify and annotate 157 loci associated with lipid levels at P < 5 × 10(-8), including 62 loci not previously associated with lipid levels in humans. Using dense genotyping in individuals of European, East Asian, South Asian and African ancestry, we narrow association signals in 12 loci. We find that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index. Our results demonstrate the value of using genetic data from individuals of diverse ancestry and provide insights into the biological mechanisms regulating blood lipids to guide future genetic, biological and therapeutic research.
Published: 2013
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31. Genome-wide meta-analysis identifies new susceptibility loci for migraine.

Author: Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FMK, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs SBR, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D, and Palotie A
Subjects: Cerebellum metabolism, Computational Biology, Frontal Lobe metabolism, Humans, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Migraine Disorders genetics
Abstract: Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P<5×10(-8)). Five loci are new: near AJAP1 at 1p36, near TSPAN2 at 1p13, within FHL5 at 6q16, within C7orf10 at 7p14 and near MMP16 at 8q21. Three of these loci were identified in disease subgroup analyses. Brain tissue expression quantitative trait locus analysis suggests potential functional candidate genes at four loci: APOA1BP, TBC1D7, FUT9, STAT6 and ATP5B.
Published: 2013
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32. Identification of seven loci affecting mean telomere length and their association with disease.

Author: Codd V, Nelson CP, Albrecht E, Mangino M, Deelen J, Buxton JL, Hottenga JJ, Fischer K, Esko T, Surakka I, Broer L, Nyholt DR, Mateo Leach I, Salo P, Hägg S, Matthews MK, Palmen J, Norata GD, O'Reilly PF, Saleheen D, Amin N, Balmforth AJ, Beekman M, de Boer RA, Böhringer S, Braund PS, Burton PR, de Craen AJ, Denniff M, Dong Y, Douroudis K, Dubinina E, Eriksson JG, Garlaschelli K, Guo D, Hartikainen AL, Henders AK, Houwing-Duistermaat JJ, Kananen L, Karssen LC, Kettunen J, Klopp N, Lagou V, van Leeuwen EM, Madden PA, Mägi R, Magnusson PK, Männistö S, McCarthy MI, Medland SE, Mihailov E, Montgomery GW, Oostra BA, Palotie A, Peters A, Pollard H, Pouta A, Prokopenko I, Ripatti S, Salomaa V, Suchiman HE, Valdes AM, Verweij N, Viñuela A, Wang X, Wichmann HE, Widen E, Willemsen G, Wright MJ, Xia K, Xiao X, van Veldhuisen DJ, Catapano AL, Tobin MD, Hall AS, Blakemore AI, van Gilst WH, Zhu H, Erdmann J, Reilly MP, Kathiresan S, Schunkert H, Talmud PJ, Pedersen NL, Perola M, Ouwehand W, Kaprio J, Martin NG, van Duijn CM, Hovatta I, Gieger C, Metspalu A, Boomsma DI, Jarvelin MR, Slagboom PE, Thompson JR, Spector TD, van der Harst P, and Samani NJ
Subjects: Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Meta-Analysis as Topic, Risk Factors, Biomarkers, Tumor genetics, Disease genetics, Genetic Loci genetics, Leukocytes metabolism, Telomerase genetics, Telomere genetics
Abstract: Interindividual variation in mean leukocyte telomere length (LTL) is associated with cancer and several age-associated diseases. We report here a genome-wide meta-analysis of 37,684 individuals with replication of selected variants in an additional 10,739 individuals. We identified seven loci, including five new loci, associated with mean LTL (P < 5 × 10(-8)). Five of the loci contain candidate genes (TERC, TERT, NAF1, OBFC1 and RTEL1) that are known to be involved in telomere biology. Lead SNPs at two loci (TERC and TERT) associate with several cancers and other diseases, including idiopathic pulmonary fibrosis. Moreover, a genetic risk score analysis combining lead variants at all 7 loci in 22,233 coronary artery disease cases and 64,762 controls showed an association of the alleles associated with shorter LTL with increased risk of coronary artery disease (21% (95% confidence interval, 5-35%) per standard deviation in LTL, P = 0.014). Our findings support a causal role of telomere-length variation in some age-related diseases.
Published: 2013
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33. Genome-wide association analysis identifies susceptibility loci for migraine without aura.

Author: Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, and van den Maagdenberg AM
Subjects: Adult, Case-Control Studies, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study methods, Humans, Low Density Lipoprotein Receptor-Related Protein-1 genetics, MADS Domain Proteins genetics, MEF2 Transcription Factors, Male, Microfilament Proteins genetics, Myogenic Regulatory Factors genetics, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases genetics, Receptor, Transforming Growth Factor-beta Type II, Receptors, Transforming Growth Factor beta genetics, TRPM Cation Channels genetics, Migraine without Aura genetics
Abstract: Migraine without aura is the most common form of migraine, characterized by recurrent disabling headache and associated autonomic symptoms. To identify common genetic variants associated with this migraine type, we analyzed genome-wide association data of 2,326 clinic-based German and Dutch individuals with migraine without aura and 4,580 population-matched controls. We selected SNPs from 12 loci with 2 or more SNPs associated with P values of <1 × 10(-5) for replication testing in 2,508 individuals with migraine without aura and 2,652 controls. SNPs at two of these loci showed convincing replication: at 1q22 (in MEF2D; replication P = 4.9 × 10(-4); combined P = 7.06 × 10(-11)) and at 3p24 (near TGFBR2; replication P = 1.0 × 10(-4); combined P = 1.17 × 10(-9)). In addition, SNPs at the PHACTR1 and ASTN2 loci showed suggestive evidence of replication (P = 0.01; combined P = 3.20 × 10(-8) and P = 0.02; combined P = 3.86 × 10(-8), respectively). We also replicated associations at two previously reported migraine loci in or near TRPM8 and LRP1. This study identifies the first susceptibility loci for migraine without aura, thereby expanding our knowledge of this debilitating neurological disorder.
Published: 2012
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34. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Author: Soler Artigas M, Loth DW, Wain LV, Gharib SA, Obeidat M, Tang W, Zhai G, Zhao JH, Smith AV, Huffman JE, Albrecht E, Jackson CM, Evans DM, Cadby G, Fornage M, Manichaikul A, Lopez LM, Johnson T, Aldrich MC, Aspelund T, Barroso I, Campbell H, Cassano PA, Couper DJ, Eiriksdottir G, Franceschini N, Garcia M, Gieger C, Gislason GK, Grkovic I, Hammond CJ, Hancock DB, Harris TB, Ramasamy A, Heckbert SR, Heliövaara M, Homuth G, Hysi PG, James AL, Jankovic S, Joubert BR, Karrasch S, Klopp N, Koch B, Kritchevsky SB, Launer LJ, Liu Y, Loehr LR, Lohman K, Loos RJ, Lumley T, Al Balushi KA, Ang WQ, Barr RG, Beilby J, Blakey JD, Boban M, Boraska V, Brisman J, Britton JR, Brusselle GG, Cooper C, Curjuric I, Dahgam S, Deary IJ, Ebrahim S, Eijgelsheim M, Francks C, Gaysina D, Granell R, Gu X, Hankinson JL, Hardy R, Harris SE, Henderson J, Henry A, Hingorani AD, Hofman A, Holt PG, Hui J, Hunter ML, Imboden M, Jameson KA, Kerr SM, Kolcic I, Kronenberg F, Liu JZ, Marchini J, McKeever T, Morris AD, Olin AC, Porteous DJ, Postma DS, Rich SS, Ring SM, Rivadeneira F, Rochat T, Sayer AA, Sayers I, Sly PD, Smith GD, Sood A, Starr JM, Uitterlinden AG, Vonk JM, Wannamethee SG, Whincup PH, Wijmenga C, Williams OD, Wong A, Mangino M, Marciante KD, McArdle WL, Meibohm B, Morrison AC, North KE, Omenaas E, Palmer LJ, Pietiläinen KH, Pin I, Pola Sbreve Ek O, Pouta A, Psaty BM, Hartikainen AL, Rantanen T, Ripatti S, Rotter JI, Rudan I, Rudnicka AR, Schulz H, Shin SY, Spector TD, Surakka I, Vitart V, Völzke H, Wareham NJ, Warrington NM, Wichmann HE, Wild SH, Wilk JB, Wjst M, Wright AF, Zgaga L, Zemunik T, Pennell CE, Nyberg F, Kuh D, Holloway JW, Boezen HM, Lawlor DA, Morris RW, Probst-Hensch N, Kaprio J, Wilson JF, Hayward C, Kähönen M, Heinrich J, Musk AW, Jarvis DL, Gläser S, Järvelin MR, Ch Stricker BH, Elliott P, O'Connor GT, Strachan DP, London SJ, Hall IP, Gudnason V, and Tobin MD
Subjects: Child, Humans, Pulmonary Disease, Chronic Obstructive genetics, Pulmonary Disease, Chronic Obstructive physiopathology, White People, Genome-Wide Association Study, Respiratory Function Tests
Abstract: Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
Published: 2011
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35. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

Author: Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Mägi R, Workalemahu T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, Ingelsson E, Willer CJ, Weedon MN, Luan J, Vedantam S, Esko T, Kilpeläinen TO, Kutalik Z, Li S, Monda KL, Dixon AL, Holmes CC, Kaplan LM, Liang L, Min JL, Moffatt MF, Molony C, Nicholson G, Schadt EE, Zondervan KT, Feitosa MF, Ferreira T, Lango Allen H, Weyant RJ, Wheeler E, Wood AR, Estrada K, Goddard ME, Lettre G, Mangino M, Nyholt DR, Purcell S, Smith AV, Visscher PM, Yang J, McCarroll SA, Nemesh J, Voight BF, Absher D, Amin N, Aspelund T, Coin L, Glazer NL, Hayward C, Heard-Costa NL, Hottenga JJ, Johansson A, Johnson T, Kaakinen M, Kapur K, Ketkar S, Knowles JW, Kraft P, Kraja AT, Lamina C, Leitzmann MF, McKnight B, Morris AP, Ong KK, Perry JR, Peters MJ, Polasek O, Prokopenko I, Rayner NW, Ripatti S, Rivadeneira F, Robertson NR, Sanna S, Sovio U, Surakka I, Teumer A, van Wingerden S, Vitart V, Zhao JH, Cavalcanti-Proença C, Chines PS, Fisher E, Kulzer JR, Lecoeur C, Narisu N, Sandholt C, Scott LJ, Silander K, Stark K, Tammesoo ML, Teslovich TM, Timpson NJ, Watanabe RM, Welch R, Chasman DI, Cooper MN, Jansson JO, Kettunen J, Lawrence RW, Pellikka N, Perola M, Vandenput L, Alavere H, Almgren P, Atwood LD, Bennett AJ, Biffar R, Bonnycastle LL, Bornstein SR, Buchanan TA, Campbell H, Day IN, Dei M, Dörr M, Elliott P, Erdos MR, Eriksson JG, Freimer NB, Fu M, Gaget S, Geus EJ, Gjesing AP, Grallert H, Grässler J, Groves CJ, Guiducci C, Hartikainen AL, Hassanali N, Havulinna AS, Herzig KH, Hicks AA, Hui J, Igl W, Jousilahti P, Jula A, Kajantie E, Kinnunen L, Kolcic I, Koskinen S, Kovacs P, Kroemer HK, Krzelj V, Kuusisto J, Kvaloy K, Laitinen J, Lantieri O, Lathrop GM, Lokki ML, Luben RN, Ludwig B, McArdle WL, McCarthy A, Morken MA, Nelis M, Neville MJ, Paré G, Parker AN, Peden JF, Pichler I, Pietiläinen KH, Platou CG, Pouta A, Ridderstråle M, Samani NJ, Saramies J, Sinisalo J, Smit JH, Strawbridge RJ, Stringham HM, Swift AJ, Teder-Laving M, Thomson B, Usala G, van Meurs JB, van Ommen GJ, Vatin V, Volpato CB, Wallaschofski H, Walters GB, Widen E, Wild SH, Willemsen G, Witte DR, Zgaga L, Zitting P, Beilby JP, James AL, Kähönen M, Lehtimäki T, Nieminen MS, Ohlsson C, Palmer LJ, Raitakari O, Ridker PM, Stumvoll M, Tönjes A, Viikari J, Balkau B, Ben-Shlomo Y, Bergman RN, Boeing H, Smith GD, Ebrahim S, Froguel P, Hansen T, Hengstenberg C, Hveem K, Isomaa B, Jørgensen T, Karpe F, Khaw KT, Laakso M, Lawlor DA, Marre M, Meitinger T, Metspalu A, Midthjell K, Pedersen O, Salomaa V, Schwarz PE, Tuomi T, Tuomilehto J, Valle TT, Wareham NJ, Arnold AM, Beckmann JS, Bergmann S, Boerwinkle E, Boomsma DI, Caulfield MJ, Collins FS, Eiriksdottir G, Gudnason V, Gyllensten U, Hamsten A, Hattersley AT, Hofman A, Hu FB, Illig T, Iribarren C, Jarvelin MR, Kao WH, Kaprio J, Launer LJ, Munroe PB, Oostra B, Penninx BW, Pramstaller PP, Psaty BM, Quertermous T, Rissanen A, Rudan I, Shuldiner AR, Soranzo N, Spector TD, Syvanen AC, Uda M, Uitterlinden A, Völzke H, Vollenweider P, Wilson JF, Witteman JC, Wright AF, Abecasis GR, Boehnke M, Borecki IB, Deloukas P, Frayling TM, Groop LC, Haritunians T, Hunter DJ, Kaplan RC, North KE, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, Hirschhorn JN, Assimes TL, Wichmann HE, Thorsteinsdottir U, van Duijn CM, Stefansson K, Cupples LA, Loos RJ, Barroso I, McCarthy MI, Fox CS, Mohlke KL, and Lindgren CM
Subjects: Adipose Tissue anatomy & histology, Age Factors, Chromosome Mapping, Female, Genome, Human, Humans, Male, Meta-Analysis as Topic, Sex Characteristics, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Waist-Hip Ratio
Abstract: Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
Published: 2010
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36. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Author: Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y, Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T, Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F, Campbell H, Cappuccio FP, Cavalcanti-Proença C, Chen YD, Chen CM, Chines PS, Clarke R, Coin L, Connell J, Day IN, den Heijer M, Duan J, Ebrahim S, Elliott P, Elosua R, Eiriksdottir G, Erdos MR, Eriksson JG, Facheris MF, Felix SB, Fischer-Posovszky P, Folsom AR, Friedrich N, Freimer NB, Fu M, Gaget S, Gejman PV, Geus EJ, Gieger C, Gjesing AP, Goel A, Goyette P, Grallert H, Grässler J, Greenawalt DM, Groves CJ, Gudnason V, Guiducci C, Hartikainen AL, Hassanali N, Hall AS, Havulinna AS, Hayward C, Heath AC, Hengstenberg C, Hicks AA, Hinney A, Hofman A, Homuth G, Hui J, Igl W, Iribarren C, Isomaa B, Jacobs KB, Jarick I, Jewell E, John U, Jørgensen T, Jousilahti P, Jula A, Kaakinen M, Kajantie E, Kaplan LM, Kathiresan S, Kettunen J, Kinnunen L, Knowles JW, Kolcic I, König IR, Koskinen S, Kovacs P, Kuusisto J, Kraft P, Kvaløy K, Laitinen J, Lantieri O, Lanzani C, Launer LJ, Lecoeur C, Lehtimäki T, Lettre G, Liu J, Lokki ML, Lorentzon M, Luben RN, Ludwig B, Manunta P, Marek D, Marre M, Martin NG, McArdle WL, McCarthy A, McKnight B, Meitinger T, Melander O, Meyre D, Midthjell K, Montgomery GW, Morken MA, Morris AP, Mulic R, Ngwa JS, Nelis M, Neville MJ, Nyholt DR, O'Donnell CJ, O'Rahilly S, Ong KK, Oostra B, Paré G, Parker AN, Perola M, Pichler I, Pietiläinen KH, Platou CG, Polasek O, Pouta A, Rafelt S, Raitakari O, Rayner NW, Ridderstråle M, Rief W, Ruokonen A, Robertson NR, Rzehak P, Salomaa V, Sanders AR, Sandhu MS, Sanna S, Saramies J, Savolainen MJ, Scherag S, Schipf S, Schreiber S, Schunkert H, Silander K, Sinisalo J, Siscovick DS, Smit JH, Soranzo N, Sovio U, Stephens J, Surakka I, Swift AJ, Tammesoo ML, Tardif JC, Teder-Laving M, Teslovich TM, Thompson JR, Thomson B, Tönjes A, Tuomi T, van Meurs JB, van Ommen GJ, Vatin V, Viikari J, Visvikis-Siest S, Vitart V, Vogel CI, Voight BF, Waite LL, Wallaschofski H, Walters GB, Widen E, Wiegand S, Wild SH, Willemsen G, Witte DR, Witteman JC, Xu J, Zhang Q, Zgaga L, Ziegler A, Zitting P, Beilby JP, Farooqi IS, Hebebrand J, Huikuri HV, James AL, Kähönen M, Levinson DF, Macciardi F, Nieminen MS, Ohlsson C, Palmer LJ, Ridker PM, Stumvoll M, Beckmann JS, Boeing H, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Collins FS, Cupples LA, Smith GD, Erdmann J, Froguel P, Grönberg H, Gyllensten U, Hall P, Hansen T, Harris TB, Hattersley AT, Hayes RB, Heinrich J, Hu FB, Hveem K, Illig T, Jarvelin MR, Kaprio J, Karpe F, Khaw KT, Kiemeney LA, Krude H, Laakso M, Lawlor DA, Metspalu A, Munroe PB, Ouwehand WH, Pedersen O, Penninx BW, Peters A, Pramstaller PP, Quertermous T, Reinehr T, Rissanen A, Rudan I, Samani NJ, Schwarz PE, Shuldiner AR, Spector TD, Tuomilehto J, Uda M, Uitterlinden A, Valle TT, Wabitsch M, Waeber G, Wareham NJ, Watkins H, Wilson JF, Wright AF, Zillikens MC, Chatterjee N, McCarroll SA, Purcell S, Schadt EE, Visscher PM, Assimes TL, Borecki IB, Deloukas P, Fox CS, Groop LC, Haritunians T, Hunter DJ, Kaplan RC, Mohlke KL, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, van Duijn CM, Wichmann HE, Frayling TM, Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E, and Loos RJ
Subjects: Body Size genetics, Genetic Predisposition to Disease genetics, Genome-Wide Association Study, Humans, Obesity genetics, Polymorphism, Single Nucleotide, White People genetics, Body Height genetics, Body Mass Index, Body Weight genetics, Chromosome Mapping
Abstract: Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ∼ 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10⁻⁸), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
Published: 2010
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37. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

Author: Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, and Palotie A
Subjects: Antigens, Surface genetics, Calcium-Binding Proteins genetics, Case-Control Studies, Cell Adhesion Molecules genetics, Cells, Cultured, Female, Genotype, Glutamate Carboxypeptidase II genetics, Humans, Lymphocytes metabolism, Male, Membrane Proteins, Quantitative Trait Loci, RNA-Binding Proteins, Chromosomes, Human, Pair 8 genetics, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Microsatellite Repeats genetics, Migraine Disorders genetics
Abstract: Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare monogenic subtypes, no genetic or molecular markers for migraine have been convincingly established. We identified the minor allele of rs1835740 on chromosome 8q22.1 to be associated with migraine (P = 5.38 × 10⁻⁹, odds ratio = 1.23, 95% CI 1.150-1.324) in a genome-wide association study of 2,731 migraine cases ascertained from three European headache clinics and 10,747 population-matched controls. The association was replicated in 3,202 cases and 40,062 controls for an overall meta-analysis P value of 1.69 × 10⁻¹¹ (odds ratio = 1.18, 95% CI 1.127-1.244). rs1835740 is located between MTDH (astrocyte elevated gene 1, also known as AEG-1) and PGCP (encoding plasma glutamate carboxypeptidase). In an expression quantitative trait study in lymphoblastoid cell lines, transcript levels of the MTDH were found to have a significant correlation to rs1835740 (P = 3.96 × 10⁻⁵, permuted threshold for genome-wide significance 7.7 × 10⁻⁵. To our knowledge, our data establish rs1835740 as the first genetic risk factor for migraine.
Published: 2010
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38. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Author: Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparsø T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proença C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jørgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Lyssenko V, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville MJ, Oostra BA, Orrù M, Pakyz R, Palmer CN, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Thorand B, Tichet J, Tönjes A, Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Ríos M, Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M, Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T, Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright AF, Stumvoll M, Campbell H, Wilson JF, Bergman RN, Buchanan TA, Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K, van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC, and Barroso I
Subjects: Adolescent, Adult, Alleles, Child, DNA Copy Number Variations genetics, Databases, Genetic, Delta-5 Fatty Acid Desaturase, Gene Expression Regulation, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide genetics, Quantitative Trait Loci genetics, Quantitative Trait, Heritable, Reproducibility of Results, Blood Glucose genetics, Blood Glucose metabolism, Diabetes Mellitus, Type 2 genetics, Fasting blood, Genetic Loci genetics, Genetic Predisposition to Disease, Homeostasis genetics
Abstract: Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
Published: 2010
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39. Genome-wide association study identifies five loci associated with lung function.

Author: Repapi E, Sayers I, Wain LV, Burton PR, Johnson T, Obeidat M, Zhao JH, Ramasamy A, Zhai G, Vitart V, Huffman JE, Igl W, Albrecht E, Deloukas P, Henderson J, Granell R, McArdle WL, Rudnicka AR, Barroso I, Loos RJ, Wareham NJ, Mustelin L, Rantanen T, Surakka I, Imboden M, Wichmann HE, Grkovic I, Jankovic S, Zgaga L, Hartikainen AL, Peltonen L, Gyllensten U, Johansson A, Zaboli G, Campbell H, Wild SH, Wilson JF, Gläser S, Homuth G, Völzke H, Mangino M, Soranzo N, Spector TD, Polasek O, Rudan I, Wright AF, Heliövaara M, Ripatti S, Pouta A, Naluai AT, Olin AC, Torén K, Cooper MN, James AL, Palmer LJ, Hingorani AD, Wannamethee SG, Whincup PH, Smith GD, Ebrahim S, McKeever TM, Pavord ID, MacLeod AK, Morris AD, Porteous DJ, Cooper C, Dennison E, Shaheen S, Karrasch S, Schnabel E, Schulz H, Grallert H, Bouatia-Naji N, Delplanque J, Froguel P, Blakey JD, Britton JR, Morris RW, Holloway JW, Lawlor DA, Hui J, Nyberg F, Jarvelin MR, Jackson C, Kähönen M, Kaprio J, Probst-Hensch NM, Koch B, Hayward C, Evans DM, Elliott P, Strachan DP, Hall IP, and Tobin MD
Subjects: Female, Forced Expiratory Volume, Glutathione Transferase genetics, Humans, Lung metabolism, Lung physiopathology, Male, Meta-Analysis as Topic, Microfilament Proteins genetics, Polymorphism, Single Nucleotide, Pulmonary Disease, Chronic Obstructive genetics, Pulmonary Disease, Chronic Obstructive physiopathology, RNA, Messenger genetics, RNA, Messenger metabolism, Receptor for Advanced Glycation End Products, Receptors, Immunologic genetics, Receptors, Serotonin, 5-HT4 genetics, Respiratory Function Tests, Spirometry, Tensins, Thrombospondins genetics, Vital Capacity, Gene Expression Profiling, Genome, Human genetics, Genome-Wide Association Study methods, Lung physiology
Abstract: Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
Published: 2010
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