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1. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author

Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics
Abstract

A correction to this article has been published and is linked from the HTML version of this article.

Published
2017

2. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author

Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei

Subjects
Humans, Thinness, 17-Hydroxysteroid Dehydrogenases, Aldehyde Oxidoreductases, Extracellular Matrix Proteins, Body Composition, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Regulatory Elements, Transcriptional, Versicans, Genome-Wide Association Study, Insulin Receptor Substrate Proteins, ADAMTS Proteins, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Human Genome, Genetics, 1.1 Normal biological development and functioning
Abstract

Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p

Published
2017

3. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Author

Day, Felix R, Thompson, Deborah J, Helgason, Hannes, Chasman, Daniel I, Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S, Whalen, Sean, Sarkar, Abhishek K, Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, Caterina M, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J, Karlsson, Robert, Kolcic, Ivana, Loh, Po-Ru, Lunetta, Kathryn L, Mangino, Massimo, Marco, Brumat, McMahon, George, Medland, Sarah E, Nolte, Ilja M, Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M, Schraut, Katharina E, Segrè, Ayellet V, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L, Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Broer, Linda, Brüning, Thomas, Buring, Julie E, Campbell, Harry, Catamo, Eulalia, Chanock, Stephen, Chenevix-Trench, Georgia, Corre, Tanguy, Couch, Fergus J, Cousminer, Diana L, Cox, Angela, Crisponi, Laura, Czene, Kamila, Davey Smith, George, de Geus, Eco JCN, de Mutsert, Renée, De Vivo, Immaculata, Dennis, Joe, Devilee, Peter, Dos-Santos-Silva, Isabel, Dunning, Alison M, Eriksson, Johan G, Fasching, Peter A, Fernández-Rhodes, Lindsay, Ferrucci, Luigi, Flesch-Janys, Dieter, Franke, Lude, Gabrielson, Marike, Gandin, Ilaria, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Guénel, Pascal, Hall, Per, Hallberg, Emily, Hamann, Ute, Harris, Tamara B, Hartman, Catharina A, Heiss, Gerardo, Hooning, Maartje J, Hopper, John L, Hu, Frank, Hunter, David J, Ikram, M Arfan, Im, Hae Kyung, Järvelin, Marjo-Riitta, Joshi, Peter K, Karasik, David, and Kellis, Manolis

Subjects
LifeLines Cohort Study, InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium, Humans, Neoplasms, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases, Intercellular Signaling Peptides and Proteins, Calcium-Binding Proteins, Ribonucleoproteins, Membrane Proteins, Body Mass Index, Risk Factors, Age Factors, Genomic Imprinting, Puberty, Menarche, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Databases, Genetic, Adolescent, Female, Male, Genome-Wide Association Study, Aging, Breast Cancer, Biotechnology, Cancer, Human Genome, Genetics, Prostate Cancer, Urologic Diseases, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10-8) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues. Rare variants near the imprinted genes MKRN3 and DLK1 were identified, exhibiting large effects when paternally inherited. Mendelian randomization analyses suggest causal inverse associations, independent of body mass index (BMI), between puberty timing and risks for breast and endometrial cancers in women and prostate cancer in men. In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility.

Published
2017

4. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Author

Day, Felix R, Ruth, Katherine S, Thompson, Deborah J, Lunetta, Kathryn L, Pervjakova, Natalia, Chasman, Daniel I, Stolk, Lisette, Finucane, Hilary K, Sulem, Patrick, Bulik-Sullivan, Brendan, Esko, Tõnu, Johnson, Andrew D, Elks, Cathy E, Franceschini, Nora, He, Chunyan, Altmaier, Elisabeth, Brody, Jennifer A, Franke, Lude L, Huffman, Jennifer E, Keller, Margaux F, McArdle, Patrick F, Nutile, Teresa, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M, Schick, Ursula M, Smith, Jennifer A, Teumer, Alexander, Traglia, Michela, Vuckovic, Dragana, Yao, Jie, Zhao, Wei, Albrecht, Eva, Amin, Najaf, Corre, Tanguy, Hottenga, Jouke-Jan, Mangino, Massimo, Smith, Albert V, Tanaka, Toshiko, Abecasis, Goncalo, Andrulis, Irene L, Anton-Culver, Hoda, Antoniou, Antonis C, Arndt, Volker, Arnold, Alice M, Barbieri, Caterina, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bernstein, Leslie, Bielinski, Suzette J, Blomqvist, Carl, Boerwinkle, Eric, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Boutin, Thibaud S, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Campbell, Archie, Campbell, Harry, Chanock, Stephen J, Chapman, J Ross, Chen, Yii-Der Ida, Chenevix-Trench, Georgia, Couch, Fergus J, Coviello, Andrea D, Cox, Angela, Czene, Kamila, Darabi, Hatef, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Eicher, John D, Fasching, Peter A, Faul, Jessica D, Figueroa, Jonine, Flesch-Janys, Dieter, Gandin, Ilaria, Garcia, Melissa E, García-Closas, Montserrat, Giles, Graham G, Girotto, Giorgia G, Goldberg, Mark S, González-Neira, Anna, Goodarzi, Mark O, Grove, Megan L, Gudbjartsson, Daniel F, Guénel, Pascal, Guo, Xiuqing, Haiman, Christopher A, Hall, Per, and Hamann, Ute

Subjects
PRACTICAL consortium, kConFab Investigators, AOCS Investigators, Generation Scotland, EPIC-InterAct Consortium, LifeLines Cohort Study, Hypothalamus, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, Genomics, Age Factors, Signal Transduction, DNA Repair, Aging, Reproduction, Menopause, Genotype, Phenotype, Models, Genetic, Adult, Middle Aged, Female, Gene Regulatory Networks, Genetic Variation, Genome-Wide Association Study, Models, Genetic, Developmental Biology, Medical and Health Sciences, Biological Sciences
Abstract

Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.

Published
2015

5. The transcriptional landscape of age in human peripheral blood.

Author

Peters, Marjolein J, Joehanes, Roby, Pilling, Luke C, Schurmann, Claudia, Conneely, Karen N, Powell, Joseph, Reinmaa, Eva, Sutphin, George L, Zhernakova, Alexandra, Schramm, Katharina, Wilson, Yana A, Kobes, Sayuko, Tukiainen, Taru, NABEC/UKBEC Consortium, Ramos, Yolande F, Göring, Harald HH, Fornage, Myriam, Liu, Yongmei, Gharib, Sina A, Stranger, Barbara E, De Jager, Philip L, Aviv, Abraham, Levy, Daniel, Murabito, Joanne M, Munson, Peter J, Huan, Tianxiao, Hofman, Albert, Uitterlinden, André G, Rivadeneira, Fernando, van Rooij, Jeroen, Stolk, Lisette, Broer, Linda, Verbiest, Michael MPJ, Jhamai, Mila, Arp, Pascal, Metspalu, Andres, Tserel, Liina, Milani, Lili, Samani, Nilesh J, Peterson, Pärt, Kasela, Silva, Codd, Veryan, Peters, Annette, Ward-Caviness, Cavin K, Herder, Christian, Waldenberger, Melanie, Roden, Michael, Singmann, Paula, Zeilinger, Sonja, Illig, Thomas, Homuth, Georg, Grabe, Hans-Jörgen, Völzke, Henry, Steil, Leif, Kocher, Thomas, Murray, Anna, Melzer, David, Yaghootkar, Hanieh, Bandinelli, Stefania, Moses, Eric K, Kent, Jack W, Curran, Joanne E, Johnson, Matthew P, Williams-Blangero, Sarah, Westra, Harm-Jan, McRae, Allan F, Smith, Jennifer A, Kardia, Sharon LR, Hovatta, Iiris, Perola, Markus, Ripatti, Samuli, Salomaa, Veikko, Henders, Anjali K, Martin, Nicholas G, Smith, Alicia K, Mehta, Divya, Binder, Elisabeth B, Nylocks, K Maria, Kennedy, Elizabeth M, Klengel, Torsten, Ding, Jingzhong, Suchy-Dicey, Astrid M, Enquobahrie, Daniel A, Brody, Jennifer, Rotter, Jerome I, Chen, Yii-Der I, Houwing-Duistermaat, Jeanine, Kloppenburg, Margreet, Slagboom, P Eline, Helmer, Quinta, den Hollander, Wouter, Bean, Shannon, Raj, Towfique, Bakhshi, Noman, Wang, Qiao Ping, Oyston, Lisa J, Psaty, Bruce M, Tracy, Russell P, Montgomery, Grant W, and Turner, Stephen T

Subjects
NABEC/UKBEC Consortium, Humans, Gene Expression Profiling, DNA Methylation, Aging, European Continental Ancestry Group, Transcriptome, Biomarkers
Abstract

Disease incidences increase with age, but the molecular characteristics of ageing that lead to increased disease susceptibility remain inadequately understood. Here we perform a whole-blood gene expression meta-analysis in 14,983 individuals of European ancestry (including replication) and identify 1,497 genes that are differentially expressed with chronological age. The age-associated genes do not harbor more age-associated CpG-methylation sites than other genes, but are instead enriched for the presence of potentially functional CpG-methylation sites in enhancer and insulator regions that associate with both chronological age and gene expression levels. We further used the gene expression profiles to calculate the 'transcriptomic age' of an individual, and show that differences between transcriptomic age and chronological age are associated with biological features linked to ageing, such as blood pressure, cholesterol levels, fasting glucose, and body mass index. The transcriptomic prediction model adds biological relevance and complements existing epigenetic prediction models, and can be used by others to calculate transcriptomic age in external cohorts.

Published
2015

6. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author

Perry, John RB, Day, Felix, Elks, Cathy E, Sulem, Patrick, Thompson, Deborah J, Ferreira, Teresa, He, Chunyan, Chasman, Daniel I, Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q, Corre, Tanguy, Cousminer, Diana L, Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D, Kjellqvist, Sanela, Lunetta, Kathryn L, McMahon, George, Nolte, Ilja M, Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Tšernikova, Natalia, Tikkanen, Emmi, Ulivi, Sheila, Wagner, Erin K, Amin, Najaf, Bierut, Laura J, Byrne, Enda M, Hottenga, Jouke-Jan, Koller, Daniel L, Mangino, Massimo, Pers, Tune H, Yerges-Armstrong, Laura M, Hua Zhao, Jing, Andrulis, Irene L, Anton-Culver, Hoda, Atsma, Femke, Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Buring, Julie E, Chang-Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix-Trench, Georgia, Collée, J Margriet, Couch, Fergus J, Couper, David, Coviello, Andrea D, Cox, Angela, Czene, Kamila, D’adamo, Adamo Pio, Davey Smith, George, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Devilee, Peter, Dieffenbach, Aida K, Dunning, Alison M, Eiriksdottir, Gudny, Eriksson, Johan G, Fasching, Peter A, Ferrucci, Luigi, Flesch-Janys, Dieter, Flyger, Henrik, Foroud, Tatiana, Franke, Lude, Garcia, Melissa E, García-Closas, Montserrat, Geller, Frank, de Geus, Eco EJ, Giles, Graham G, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Guo, Suiqun, Hall, Per, Hamann, Ute, Haring, Robin, Hartman, Catharina A, Heath, Andrew C, Hofman, Albert, Hooning, Maartje J, Hopper, John L, Hu, Frank B, Hunter, David J, Karasik, David, and Kiel, Douglas P

Subjects
Paediatrics, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Contraception/Reproduction, Pediatric, Biotechnology, Human Genome, Clinical Research, Adolescent, Age Factors, Alleles, Body Mass Index, Breast Neoplasms, Calcium-Binding Proteins, Cardiovascular Diseases, Child, Diabetes Mellitus, Type 2, Europe, Female, Genetic Loci, Genome-Wide Association Study, Genomic Imprinting, Humans, Hypothalamo-Hypophyseal System, Intercellular Signaling Peptides and Proteins, Male, Membrane Proteins, Menarche, Obesity, Ovary, Parents, Polymorphism, Single Nucleotide, Potassium Channels, Tandem Pore Domain, Proteins, Quantitative Trait Loci, Receptors, GABA-B, Receptors, Retinoic Acid, Ribonucleoproteins, Ubiquitin-Protein Ligases, Australian Ovarian Cancer Study, GENICA Network, kConFab, LifeLines Cohort Study, InterAct Consortium, Early Growth Genetics (EGG) Consortium, General Science & Technology
Abstract

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P

Published
2014

7. A genome-wide association study of early menopause and the combined impact of identified variants

Author

Perry, John RB, Corre, Tanguy, Esko, Tõnu, Chasman, Daniel I, Fischer, Krista, Franceschini, Nora, He, Chunyan, Kutalik, Zoltan, Mangino, Massimo, Rose, Lynda M, Smith, Albert Vernon, Stolk, Lisette, Sulem, Patrick, Weedon, Michael N, Zhuang, Wei V, Arnold, Alice, Ashworth, Alan, Bergmann, Sven, Buring, Julie E, Burri, Andrea, Chen, Constance, Cornelis, Marilyn C, Couper, David J, Goodarzi, Mark O, Gudnason, Vilmundur, Harris, Tamara, Hofman, Albert, Jones, Michael, Kraft, Peter, Launer, Lenore, Laven, Joop SE, Li, Guo, McKnight, Barbara, Masciullo, Corrado, Milani, Lili, Orr, Nicholas, Psaty, Bruce M, Ridker, Paul M, Rivadeneira, Fernando, Sala, Cinzia, Salumets, Andres, Schoemaker, Minouk, Traglia, Michela, Waeber, Gérard, Chanock, Stephen J, Demerath, Ellen W, Garcia, Melissa, Hankinson, Susan E, Hu, Frank B, Hunter, David J, Lunetta, Kathryn L, Metspalu, Andres, Montgomery, Grant W, Murabito, Joanne M, Newman, Anne B, Ong, Ken K, Spector, Tim D, Stefansson, Kari, Swerdlow, Anthony J, Thorsteinsdottir, Unnur, Van Dam, Rob M, Uitterlinden, André G, Visser, Jenny A, Vollenweider, Peter, Toniolo, Daniela, and Murray, Anna

Subjects
Biotechnology, Contraception/Reproduction, Infertility, Genetics, Human Genome, Aging, Estrogen, Prevention, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Good Health and Well Being, Case-Control Studies, Female, Gene Frequency, Genome-Wide Association Study, Humans, Menopause, Premature, Polymorphism, Single Nucleotide, Primary Ovarian Insufficiency, Quantitative Trait Loci, Risk, ReproGen Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Early menopause (EM) affects up to 10% of the female population, reducing reproductive lifespan considerably. Currently, it constitutes the leading cause of infertility in the western world, affecting mainly those women who postpone their first pregnancy beyond the age of 30 years. The genetic aetiology of EM is largely unknown in the majority of cases. We have undertaken a meta-analysis of genome-wide association studies (GWASs) in 3493 EM cases and 13 598 controls from 10 independent studies. No novel genetic variants were discovered, but the 17 variants previously associated with normal age at natural menopause as a quantitative trait (QT) were also associated with EM and primary ovarian insufficiency (POI). Thus, EM has a genetic aetiology which overlaps variation in normal age at menopause and is at least partly explained by the additive effects of the same polygenic variants. The combined effect of the common variants captured by the single nucleotide polymorphism arrays was estimated to account for ∼30% of the variance in EM. The association between the combined 17 variants and the risk of EM was greater than the best validated non-genetic risk factor, smoking.

Published
2013

8. A Genome-Wide Association Meta-Analysis of Circulating Sex Hormone–Binding Globulin Reveals Multiple Loci Implicated in Sex Steroid Hormone Regulation

Author

Coviello, Andrea D, Haring, Robin, Wellons, Melissa, Vaidya, Dhananjay, Lehtimäki, Terho, Keildson, Sarah, Lunetta, Kathryn L, He, Chunyan, Fornage, Myriam, Lagou, Vasiliki, Mangino, Massimo, Onland-Moret, N Charlotte, Chen, Brian, Eriksson, Joel, Garcia, Melissa, Liu, Yong Mei, Koster, Annemarie, Lohman, Kurt, Lyytikäinen, Leo-Pekka, Petersen, Ann-Kristin, Prescott, Jennifer, Stolk, Lisette, Vandenput, Liesbeth, Wood, Andrew R, Zhuang, Wei Vivian, Ruokonen, Aimo, Hartikainen, Anna-Liisa, Pouta, Anneli, Bandinelli, Stefania, Biffar, Reiner, Brabant, Georg, Cox, David G, Chen, Yuhui, Cummings, Steven, Ferrucci, Luigi, Gunter, Marc J, Hankinson, Susan E, Martikainen, Hannu, Hofman, Albert, Homuth, Georg, Illig, Thomas, Jansson, John-Olov, Johnson, Andrew D, Karasik, David, Karlsson, Magnus, Kettunen, Johannes, Kiel, Douglas P, Kraft, Peter, Liu, Jingmin, Ljunggren, Östen, Lorentzon, Mattias, Maggio, Marcello, Markus, Marcello RP, Mellström, Dan, Miljkovic, Iva, Mirel, Daniel, Nelson, Sarah, Papunen, Laure Morin, Peeters, Petra HM, Prokopenko, Inga, Raffel, Leslie, Reincke, Martin, Reiner, Alex P, Rexrode, Kathryn, Rivadeneira, Fernando, Schwartz, Stephen M, Siscovick, David, Soranzo, Nicole, Stöckl, Doris, Tworoger, Shelley, Uitterlinden, André G, van Gils, Carla H, Vasan, Ramachandran S, Wichmann, H-Erich, Zhai, Guangju, Bhasin, Shalender, Bidlingmaier, Martin, Chanock, Stephen J, De Vivo, Immaculata, Harris, Tamara B, Hunter, David J, Kähönen, Mika, Liu, Simin, Ouyang, Pamela, Spector, Tim D, van der Schouw, Yvonne T, Viikari, Jorma, Wallaschofski, Henri, McCarthy, Mark I, Frayling, Timothy M, Murray, Anna, Franks, Steve, Järvelin, Marjo-Riitta, de Jong, Frank H, Raitakari, Olli, Teumer, Alexander, Ohlsson, Claes, Murabito, Joanne M, and Perry, John RB

Subjects
Biological Sciences, Genetics, Breast Cancer, Aging, Estrogen, Cancer Genomics, Urologic Diseases, Cancer, Prostate Cancer, Human Genome, Women's Health, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Alleles, Female, Genetic Heterogeneity, Genome-Wide Association Study, Gonadal Steroid Hormones, Humans, Male, Metabolic Networks and Pathways, Polymorphism, Single Nucleotide, Sex Characteristics, Sex Hormone-Binding Globulin, Developmental Biology
Abstract

Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroid hormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes (T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide association study (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046 individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBG concentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.8 × 10(-106)), PRMT6 (rs17496332, 1p13.3, p = 1.4 × 10(-11)), GCKR (rs780093, 2p23.3, p = 2.2 × 10(-16)), ZBTB10 (rs440837, 8q21.13, p = 3.4 × 10(-09)), JMJD1C (rs7910927, 10q21.3, p = 6.1 × 10(-35)), SLCO1B1 (rs4149056, 12p12.1, p = 1.9 × 10(-08)), NR2F2 (rs8023580, 15q26.2, p = 8.3 × 10(-12)), ZNF652 (rs2411984, 17q21.32, p = 3.5 × 10(-14)), TDGF3 (rs1573036, Xq22.3, p = 4.1 × 10(-14)), LHCGR (rs10454142, 2p16.3, p = 1.3 × 10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p = 2.7 × 10(-08)), and UGT2B15 (rs293428, 4q13.2, p = 5.5 × 10(-06)). These genes encompass multiple biologic pathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptor function, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer. We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 was significant in men only (men p = 2.5 × 10(-08), women p = 0.66, heterogeneity p = 0.003). Additionally, three loci showed strong sex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger in women. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion of variance explained at the locus. Using an independent study of 1,129 individuals, all SNPs identified in the overall or sex-differentiated or conditional analyses explained ~15.6% and ~8.4% of the genetic variation of SHBG concentrations in men and women, respectively. The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance.

Published
2012

9. Genetic determinants of serum testosterone concentrations in men.

Author

Ohlsson, Claes, Wallaschofski, Henri, Lunetta, Kathryn L, Stolk, Lisette, Perry, John RB, Koster, Annemarie, Petersen, Ann-Kristin, Eriksson, Joel, Lehtimäki, Terho, Huhtaniemi, Ilpo T, Hammond, Geoffrey L, Maggio, Marcello, Coviello, Andrea D, EMAS Study Group, Ferrucci, Luigi, Heier, Margit, Hofman, Albert, Holliday, Kate L, Jansson, John-Olov, Kähönen, Mika, Karasik, David, Karlsson, Magnus K, Kiel, Douglas P, Liu, Yongmei, Ljunggren, Osten, Lorentzon, Mattias, Lyytikäinen, Leo-Pekka, Meitinger, Thomas, Mellström, Dan, Melzer, David, Miljkovic, Iva, Nauck, Matthias, Nilsson, Maria, Penninx, Brenda, Pye, Stephen R, Vasan, Ramachandran S, Reincke, Martin, Rivadeneira, Fernando, Tajar, Abdelouahid, Teumer, Alexander, Uitterlinden, André G, Ulloor, Jagadish, Viikari, Jorma, Völker, Uwe, Völzke, Henry, Wichmann, H Erich, Wu, Tsung-Sheng, Zhuang, Wei Vivian, Ziv, Elad, Wu, Frederick CW, Raitakari, Olli, Eriksson, Anna, Bidlingmaier, Martin, Harris, Tamara B, Murray, Anna, de Jong, Frank H, Murabito, Joanne M, Bhasin, Shalender, Vandenput, Liesbeth, and Haring, Robin

Subjects
EMAS Study Group, Chromosomes, Human, X, Humans, Testosterone, Sex Hormone-Binding Globulin, Nuclear Proteins, Body Mass Index, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, 80 and over, Middle Aged, Male, Genome-Wide Association Study, Aged, and over, Chromosomes, Human, X, Polymorphism, Single Nucleotide, Genetics, Developmental Biology
Abstract

Testosterone concentrations in men are associated with cardiovascular morbidity, osteoporosis, and mortality and are affected by age, smoking, and obesity. Because of serum testosterone's high heritability, we performed a meta-analysis of genome-wide association data in 8,938 men from seven cohorts and followed up the genome-wide significant findings in one in silico (n = 871) and two de novo replication cohorts (n = 4,620) to identify genetic loci significantly associated with serum testosterone concentration in men. All these loci were also associated with low serum testosterone concentration defined as

Published
2011

10. Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis

Author

Kerkhof, Hanneke JM, Meulenbelt, Ingrid, Carr, Andrew, Gonzalez, Antonio, Hart, Deborah, Hofman, Albert, Kloppenburg, Margreet, Lane, Nancy E, Loughlin, John, Nevitt, Michael C, Pols, Huibert AP, Rivadeneira, Fernando, Slagboom, Eline P, Spector, Tim D, Stolk, Lisette, Tsezou, Aspasia, Uitterlinden, André G, Valdes, Ana M, and van Meurs, Joyce BJ

Abstract

Abstract Background The objective of this study was to examine the relationship between common genetic variation of the ESR2 gene and osteoarthritis. Methods In the discovery study, the Rotterdam Study-I, 7 single nucleotide polymorphisms (SNPs) were genotyped and tested for association with hip (284 cases, 2772 controls), knee (665 cases, 2075 controls), and hand OA (874 cases, 2184 controls) using an additive model. In the replication stage one SNP (rs1256031) was tested in an additional 2080 hip, 1318 knee and 557 hand OA cases and 4001, 2631 and 1699 controls respectively. Fixed- and random-effects meta-analyses were performed over the complete dataset including 2364 hip, 1983 knee and 1431 hand OA cases and approximately 6000 controls. Results The C allele of rs1256031 was associated with a 36% increased odds of hip OA in women of the Rotterdam Study-I (OR 1.36, 95% CI 1.08-1.70, p = 0.009). Haplotype analysis and analysis of knee- and hand OA did not give additional information. With the replication studies, the meta-analysis did not show a significant effect of this SNP on hip OA in the total population (OR 1.06, 95% CI 0.99-1.15, p = 0.10). Stratification according to gender did not change the results. In this study, we had 80% power to detect an odds ratio of at least 1.14 for hip OA (α = 0.05). Conclusion This study showed that common genetic variation in the ESR2 gene is not likely to influence the risk of osteoarthritis with effects smaller than a 13% increase.

Published
2010

11. DNA methylation profiles at birth and child ADHD symptoms

Author

van Mil, Nina H., Steegers-Theunissen, Régine P.M., Bouwland-Both, Marieke I., Verbiest, Michael M.P.J., Rijlaarsdam, Jolien, Hofman, Albert, Steegers, Eric A.P., Heijmans, Bastiaan T., Jaddoe, Vincent W.V., Verhulst, Frank C., Stolk, Lisette, Eilers, Paul H.C., Uitterlinden, André G., and Tiemeier, Henning

Published
2014
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12. Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus

Author

Oei, Ling, Estrada, Karol, Duncan, Emma L., Christiansen, Claus, Liu, Ching-Ti, Langdahl, Bente L., Obermayer-Pietsch, Barbara, Riancho, José A., Prince, Richard L., van Schoor, Natasja M., McCloskey, Eugene, Hsu, Yi-Hsiang, Evangelou, Evangelos, Ntzani, Evangelia, Evans, David M., Alonso, Nerea, Husted, Lise B., Valero, Carmen, Hernandez, Jose L., Lewis, Joshua R., Kaptoge, Stephen K., Zhu, Kun, Cupples, L. Adrienne, Medina-Gómez, Carolina, Vandenput, Liesbeth, Kim, Ghi Su, Lee, Seung Hun, Castaño-Betancourt, Martha C., Oei, Edwin H.G., Martinez, Josefina, Daroszewska, Anna, van der Klift, Marjolein, Mellström, Dan, Herrera, Lizbeth, Karlsson, Magnus K., Hofman, Albert, Ljunggren, Östen, Pols, Huibert A.P., Stolk, Lisette, van Meurs, Joyce B.J., Ioannidis, John P.A., Zillikens, M. Carola, Lips, Paul, Karasik, David, Uitterlinden, André G., Styrkarsdottir, Unnur, Brown, Matthew A., Koh, Jung-Min, Richards, J. Brent, Reeve, Jonathan, Ohlsson, Claes, Ralston, Stuart H., Kiel, Douglas P., and Rivadeneira, Fernando

Published
2014
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13. Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

Author

Wahl, Simone, Drong, Alexander, Lehne, Benjamin, Loh, Marie, Scott, William R., Kunze, Sonja, Tsai, Pei-Chien, Ried, Janina S., Zhang, Weihua, Yang, Youwen, Tan, Sili, Fiorito, Giovanni, Franke, Lude, Guarrera, Simonetta, Kasela, Silva, Kriebel, Jennifer, Richmond, Rebecca C., Adamo, Marco, Afzal, Uzma, Ala-Korpela, Mika, Albetti, Benedetta, Ammerpohl, Ole, Apperley, Jane F., Beekman, Marian, Bertazzi, Pier Alberto, Black, Lucas S., Blancher, Christine, Bonder, Marc-Jan, Brosch, Mario, Carstensen-Kirberg, Maren, de Craen, Anton J. M., de Lusignan, Simon, Dehghan, Abbas, Elkalaawy, Mohamed, Fischer, Krista, Franco, Oscar H., Gaunt, Tom R., Hampe, Jochen, Hashemi, Majid, Isaacs, Aaron, Jenkinson, Andrew, Jha, Sujeet, Kato, Norihiro, Krogh, Vittorio, Laffan, Michael, Meisinger, Christa, Meitinger, Thomas, Mok, Zuan Yu, Motta, Valeria, Ng, Hong Kiat, Nikolakopoulou, Zacharoula, Nteliopoulos, Georgios, Panico, Salvatore, Pervjakova, Natalia, Prokisch, Holger, Rathmann, Wolfgang, Roden, Michael, Rota, Federica, Rozario, Michelle Ann, Sandling, Johanna K., Schafmayer, Clemens, Schramm, Katharina, Siebert, Reiner, Slagboom, Eline P., Soininen, Pasi, Stolk, Lisette, Strauch, Konstantin, Tai, E-Shyong, Tarantini, Letizia, Thorand, Barbara, Tigchelaar, Ettje F., Tumino, Rosario, Uitterlinden, Andre G., van Duijn, Cornelia, van Meurs, Joyce B. J., Vineis, Paolo, Wickremasinghe, Ananda Rajitha, Wijmenga, Cisca, Yang, Tsun-Po, Yuan, Wei, Zhernakova, Alexandra, Batterham, Rachel L., Smith, George Davey, Deloukas, Panos, Heijmans, Bastiaan T., Herder, Christian, Hofman, Albert, Lindgren, Cecilia M., Milani, Lili, van der Harst, Pim, Peters, Annette, Illig, Thomas, Relton, Caroline L., Waldenberger, Melanie, Jürvelin, Marjo-Riitta, Bollati, Valentina, Soong, Richie, Spector, Tim D., Scott, James, McCarthy, Mark I., Elliott, Paul, Bell, Jordana T., Matullo, Giuseppe, Gieger, Christian, Kooner, Jaspal S., Grallert, Harald, and Chambers, John C.

Published
2017
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15. Genetic studies of body mass index yield new insights for obesity biology

Author

Locke, Adam E., Kahali, Bratati, Berndt, Sonja I., Justice, Anne E., Pers, Tune H., Day, Felix R., Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L., Yang, Jian, Croteau-Chonka, Damien C., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jianʼan, Mägi, Reedik, Randall, Joshua C., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Faul, Jessica D., Smith, Jennifer A., Hua Zhao, Jing, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Åsa K., Karjalainen, Juha, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bolton, Jennifer L., Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Deng, Guohong, Ehret, Georg B., Feenstra, Bjarke, Feitosa, Mary F., Fischer, Krista, Goel, Anuj, Gong, Jian, Jackson, Anne U., Kanoni, Stavroula, Kleber, Marcus E., Kristiansson, Kati, Lim, Unhee, Lotay, Vaneet, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Medland, Sarah E., Nalls, Michael A., Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Shungin, Dmitry, Stančáková, Alena, Strawbridge, Rona J., Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W., van Setten, Jessica, Van Vliet-Ostaptchouk, Jana V., Wang, Zhaoming, Yengo, Loïc, Zhang, Weihua, Isaacs, Aaron, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Attwood, Antony P., Bandinelli, Stefania, Barrett, Amy, Bas, Isabelita N., Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blagieva, Roza, Blüher, Matthias, Böhringer, Stefan, Bonnycastle, Lori L., Böttcher, Yvonne, Boyd, Heather A., Bruinenberg, Marcel, Caspersen, Ida H., Ida Chen, Yii-Der, Clarke, Robert, Warwick Daw, E., de Craen, Anton J. M., Delgado, Graciela, Dimitriou, Maria, Doney, Alex S. F., Eklund, Niina, Estrada, Karol, Eury, Elodie, Folkersen, Lasse, Fraser, Ross M., Garcia, Melissa E., Geller, Frank, Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Goodall, Alison H., Gordon, Scott D., Gorski, Mathias, Grabe, Hans-Jörgen, Grallert, Harald, Grammer, Tanja B., Gräler, Jürgen, Grönberg, Henrik, Groves, Christopher J., Gusto, Gaëlle, Haessler, Jeffrey, Hall, Per, Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heard-Costa, Nancy L., Helmer, Quinta, Hengstenberg, Christian, Holmen, Oddgeir, Hottenga, Jouke-Jan, James, Alan L., Jeff, Janina M., Johansson, Åsa, Jolley, Jennifer, Juliusdottir, Thorhildur, Kinnunen, Leena, Koenig, Wolfgang, Koskenvuo, Markku, Kratzer, Wolfgang, Laitinen, Jaana, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Sin Lo, Ken, Lobbens, Stéphane, Lorbeer, Roberto, Lu, Yingchang, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., McLachlan, Stela, Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Moayyeri, Alireza, Monda, Keri L., Morken, Mario A., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Musk, Arthur W., Nagaraja, Ramaiah, Nöthen, Markus M., Nolte, Ilja M., Pilz, Stefan, Rayner, Nigel W., Renstrom, Frida, Rettig, Rainer, Ried, Janina S., Ripke, Stephan, Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Schumacher, Fredrick R., Scott, William R., Seufferlein, Thomas, Shi, Jianxin, Vernon Smith, Albert, Smolonska, Joanna, Stanton, Alice V., Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tan, Sian-Tsung, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tyrer, Jonathan P., Uh, Hae-Won, Vandenput, Liesbeth, Verhulst, Frank C., Vermeulen, Sita H., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Warren, Helen R., Waterworth, Dawn, Weedon, Michael N., Wilkens, Lynne R., Willenborg, Christina, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Wright, Alan F., Zhang, Qunyuan, Brennan, Eoin P., Choi, Murim, Dastani, Zari, Drong, Alexander W., Eriksson, Per, Franco-Cereceda, Anders, Gådin, Jesper R., Gharavi, Ali G., Goddard, Michael E., Handsaker, Robert E., Huang, Jinyan, Karpe, Fredrik, Kathiresan, Sekar, Keildson, Sarah, Kiryluk, Krzysztof, Kubo, Michiaki, Lee, Jong-Young, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McCarroll, Steven A., McKnight, Amy J., Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Okada, Yukinori, Perry, John R. B., Dorajoo, Rajkumar, Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Scott, Robert A., Stolk, Lisette, Takahashi, Atsushi, Tanaka, Toshihiro, vanʼt Hooft, Ferdinand M., Vinkhuyzen, Anna A. E., Westra, Harm-Jan, Zheng, Wei, Zondervan, Krina T., Heath, Andrew C., Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Bovet, Pascal, Campbell, Harry, Caulfield, Mark J., Cesana, Giancarlo, Chakravarti, Aravinda, Chasman, Daniel I., Chines, Peter S., Collins, Francis S., Crawford, Dana C., Adrienne Cupples, L., Cusi, Daniele, Danesh, John, de Faire, Ulf, den Ruijter, Hester M., Dominiczak, Anna F., Erbel, Raimund, Erdmann, Jeanette, Eriksson, Johan G., Farrall, Martin, Felix, Stephan B., Ferrannini, Ele, Ferrières, Jean, Ford, Ian, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gejman, Pablo V., Gieger, Christian, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hall, Alistair S., Harris, Tamara B., Hattersley, Andrew T., Hicks, Andrew A., Hindorff, Lucia A., Hingorani, Aroon D., Hofman, Albert, Homuth, Georg, Kees Hovingh, G., Humphries, Steve E., Hunt, Steven C., Hyppönen, Elina, Illig, Thomas, Jacobs, Kevin B., Jarvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Johansen, Berit, Jousilahti, Pekka, Wouter Jukema, J., Jula, Antti M., Kaprio, Jaakko, Kastelein, John J. P., Keinanen-Kiukaanniemi, Sirkka M., Kiemeney, Lambertus A., Knekt, Paul, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Moll, Frans L., Morris, Andrew D., Morris, Andrew P., Murray, Jeffrey C., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Madden, Pamela A. F., Pasterkamp, Gerard, Peden, John F., Peters, Annette, Postma, Dirkje S., Pramstaller, Peter P., Price, Jackie F., Qi, Lu, Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Rioux, John D., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schunkert, Heribert, Schwarz, Peter E. H., Sever, Peter, Shuldiner, Alan R., Sinisalo, Juha, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Trégouët, David-Alexandre, Tremblay, Angelo, Tremoli, Elena, Virtamo, Jarmo, Vohl, Marie-Claude, Völker, Uwe, Waeber, Gérard, Willemsen, Gonneke, Witteman, Jacqueline C., Carola Zillikens, M., Adair, Linda S., Amouyel, Philippe, Asselbergs, Folkert W., Assimes, Themistocles L., Bochud, Murielle, Boehm, Bernhard O., Boerwinkle, Eric, Bornstein, Stefan R., Bottinger, Erwin P., Bouchard, Claude, Cauchi, Stéphane, Chambers, John C., Chanock, Stephen J., Cooper, Richard S., de Bakker, Paul I. W., Dedoussis, George, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Groop, Leif C., Haiman, Christopher A., Hamsten, Anders, Hui, Jennie, Hunter, David J., Hveem, Kristian, Kaplan, Robert C., Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, Martin, Nicholas G., März, Winfried, Melbye, Mads, Metspalu, Andres, Moebus, Susanne, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sattar, Naveed, Schadt, Eric E., Schlessinger, David, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Walker, Mark, Wallaschofski, Henri, Wareham, Nicholas J., Watkins, Hugh, Weir, David R., Wichmann, H-Erich, Wilson, James F., Zanen, Pieter, Borecki, Ingrid B., Deloukas, Panos, Fox, Caroline S., Heid, Iris M., OʼConnell, Jeffrey R., Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Abecasis, Gonçalo R., Franke, Lude, Frayling, Timothy M., McCarthy, Mark I., Visscher, Peter M., Scherag, André, Willer, Cristen J., Boehnke, Michael, Mohlke, Karen L., Lindgren, Cecilia M., Beckmann, Jacques S., Barroso, Inês, North, Kari E., Ingelsson, Erik, Hirschhorn, Joel N., Loos, Ruth J. F., and Speliotes, Elizabeth K.

Published
2015
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16. New genetic loci link adipose and insulin biology to body fat distribution

Author

Shungin, Dmitry, Winkler, Thomas W., Croteau-Chonka, Damien C., Ferreira, Teresa, Locke, Adam E., Mägi, Reedik, Strawbridge, Rona J., Pers, Tune H., Fischer, Krista, Justice, Anne E., Workalemahu, Tsegaselassie, Wu, Joseph M. W., Buchkovich, Martin L., Heard-Costa, Nancy L., Roman, Tamara S., Drong, Alexander W., Song, Ci, Gustafsson, Stefan, Day, Felix R., Esko, Tonu, Fall, Tove, Kutalik, Zoltán, Luan, Jianʼan, Randall, Joshua C., Scherag, André, Vedantam, Sailaja, Wood, Andrew R., Chen, Jin, Fehrmann, Rudolf, Karjalainen, Juha, Kahali, Bratati, Liu, Ching-Ti, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Ehret, Georg B., Feitosa, Mary F., Goel, Anuj, Jackson, Anne U., Johnson, Toby, Kleber, Marcus E., Kristiansson, Kati, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Stančáková, Alena, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V., Yengo, Loïc, Zhang, Weihua, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blüher, Matthias, Böhringer, Stefan, Bonnet, Fabrice, Böttcher, Yvonne, Bruinenberg, Marcel, Carba, Delia B., Caspersen, Ida H., Clarke, Robert, Warwick Daw, E., Deelen, Joris, Deelman, Ewa, Delgado, Graciela, Doney, Alex S. F., Eklund, Niina, Erdos, Michael R., Estrada, Karol, Eury, Elodie, Friedrich, Nele, Garcia, Melissa E., Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Grallert, Harald, Grammer, Tanja B., Gräler, Jürgen, Grewal, Jagvir, Groves, Christopher J., Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heikkilä, Kauko, Herzig, Karl-Heinz, Helmer, Quinta, Hillege, Hans L., Holmen, Oddgeir, Hunt, Steven C., Isaacs, Aaron, Ittermann, Till, James, Alan L., Johansson, Ingegerd, Juliusdottir, Thorhildur, Kalafati, Ioanna-Panagiota, Kinnunen, Leena, Koenig, Wolfgang, Kooner, Ishminder K., Kratzer, Wolfgang, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Moayyeri, Alireza, Monda, Keri L., Mooijaart, Simon P., Mühleisen, Thomas W., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Nagaraja, Ramaiah, Nalls, Michael A., Narisu, Narisu, Glorioso, Nicola, Nolte, Ilja M., Olden, Matthias, Rayner, Nigel W., Renstrom, Frida, Ried, Janina S., Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Sennblad, Bengt, Seufferlein, Thomas, Sitlani, Colleen M., Vernon Smith, Albert, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tomaschitz, Andreas, Troffa, Chiara, van Oort, Floor V. A., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Wennauer, Roman, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Zhang, Qunyuan, Hua Zhao, Jing, Brennan, Eoin P., Choi, Murim, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Gharavi, Ali G., Hedman, Åsa K., Hivert, Marie-France, Huang, Jinyan, Kanoni, Stavroula, Karpe, Fredrik, Keildson, Sarah, Kiryluk, Krzysztof, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McKnight, Amy J., McPherson, Ruth, Metspalu, Andres, Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Olsson, Christian, Perry, John R. B., Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Schadt, Eric E., Scott, Robert A., Stolk, Lisette, Vallejo, Edgar E., Westra, Harm-Jan, Zondervan, Krina T., Amouyel, Philippe, Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Brown, Morris J., Burnier, Michel, Campbell, Harry, Chakravarti, Aravinda, Chines, Peter S., Claudi-Boehm, Simone, Collins, Francis S., Crawford, Dana C., Danesh, John, de Faire, Ulf, de Geus, Eco J. C., Dörr, Marcus, Erbel, Raimund, Eriksson, Johan G., Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gieger, Christian, Gudnason, Vilmundur, Haiman, Christopher A., Harris, Tamara B., Hattersley, Andrew T., Heliövaara, Markku, Hicks, Andrew A., Hingorani, Aroon D., Hoffmann, Wolfgang, Hofman, Albert, Homuth, Georg, Humphries, Steve E., Hyppönen, Elina, Illig, Thomas, Jarvelin, Marjo-Riitta, Johansen, Berit, Jousilahti, Pekka, Jula, Antti M., Kaprio, Jaakko, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M., Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Musk, Arthur W., Möhlenkamp, Stefan, Morris, Andrew D., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Palmer, Lyle J., Penninx, Brenda W., Peters, Annette, Pramstaller, Peter P., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schwarz, Peter E. H., Shuldiner, Alan R., Staessen, Jan A., Steinthorsdottir, Valgerdur, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F., Witteman, Jacqueline C., Adair, Linda S., Bochud, Murielle, Boehm, Bernhard O., Bornstein, Stefan R., Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Cooper, Richard S., Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sinisalo, Juha, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Veronesi, Giovanni, Walker, Mark, Wareham, Nicholas J., Watkins, Hugh, Wichmann, H-Erich, Abecasis, Goncalo R., Assimes, Themistocles L., Berndt, Sonja I., Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Franke, Lude, Frayling, Timothy M., Groop, Leif C., Hunter, David J., Kaplan, Robert C., OʼConnell, Jeffrey R., Qi, Lu, Schlessinger, David, Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Willer, Cristen J., Visscher, Peter M., Yang, Jian, Hirschhorn, Joel N., Carola Zillikens, M., McCarthy, Mark I., Speliotes, Elizabeth K., North, Kari E., Fox, Caroline S., Barroso, Inês, Franks, Paul W., Ingelsson, Erik, Heid, Iris M., Loos, Ruth J. F., Cupples, Adrienne L., Morris, Andrew P., Lindgren, Cecilia M., and Mohlke, Karen L

Published
2015
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17. Correction: Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Author

Lunetta, Kathryn L., Day, Felix R., Sulem, Patrick, Ruth, Katherine S., Tung, Joyce Y., Hinds, David A., Esko, Tõnu, Elks, Cathy E., Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E., Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J., Traglia, Michela, Wang, Carol A., Yerges-Armstrong, Laura M., Antoniou, Antonis C., Barbieri, Caterina, Coviello, Andrea D., Cucca, Francesco, Demerath, Ellen W., Dunning, Alison M., Gandin, Ilaria, Grove, Megan L., Gudbjartsson, Daniel F., Hocking, Lynne J., Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D., Karasik, David, Kriebel, Jennifer, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Li, Xin, Luan, Jian'an, Mägi, Reedik, Morrison, Alanna C., Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P., Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F., Schlessinger, David, Scott, Robert A., Stöckl, Doris, Visser, Jenny A., Völker, Uwe, Vozzi, Diego, Wilson, James G., Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E., Crisponi, Laura, Easton, Douglas F., Hayward, Caroline, Hu, Frank B., Liu, Simin, Metspalu, Andres, Pennell, Craig E., Ridker, Paul M., Strauch, Konstantin, Streeten, Elizabeth A., Toniolo, Daniela, Uitterlinden, André G., Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I., Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M., Ong, Ken K., and Perry, John R. B.

Published
2015
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21. Association of Adiposity Genetic Variants With Menarche Timing in 92,105 Women of European Descent

Author

Fernández-Rhodes, Lindsay, Demerath, Ellen W., Cousminer, Diana L., Tao, Ran, Dreyfus, Jill G., Esko, Tõnu, Smith, Albert V., Gudnason, Vilmundur, Harris, Tamara B., Launer, Lenore, McArdle, Patrick F., Yerges-Armstrong, Laura M., Elks, Cathy E., Strachan, David P., Kutalik, Zoltán, Vollenweider, Peter, Feenstra, Bjarke, Boyd, Heather A., Metspalu, Andres, Mihailov, Evelin, Broer, Linda, Zillikens, M. Carola, Oostra, Ben, van Duijn, Cornelia M., Lunetta, Kathryn L., Perry, John R. B., Murray, Anna, Koller, Daniel L., Lai, Dongbing, Corre, Tanguy, Toniolo, Daniela, Albrecht, Eva, Stöckl, Doris, Grallert, Harald, Gieger, Christian, Hayward, Caroline, Polasek, Ozren, Rudan, Igor, Wilson, James F., He, Chunyan, Kraft, Peter, Hu, Frank B., Hunter, David J., Hottenga, Jouke-Jan, Willemsen, Gonneke, Boomsma, Dorret I., Byrne, Enda M., Martin, Nicholas G., Montgomery, Grant W., Warrington, Nicole M., Pennell, Craig E., Stolk, Lisette, Visser, Jenny A., Hofman, Albert, Uitterlinden, André G., Rivadeneira, Fernando, Lin, Peng, Fisher, Sherri L., Bierut, Laura J., Crisponi, Laura, Porcu, Eleonora, Mangino, Massimo, Zhai, Guangju, Spector, Tim D., Buring, Julie E., Rose, Lynda M., Ridker, Paul M., Poole, Charles, Hirschhorn, Joel N., Murabito, Joanne M., Chasman, Daniel I., Widen, Elisabeth, North, Kari E., Ong, Ken K., and Franceschini, Nora

Published
2013
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22. High Bone Mineral Density and Fracture Risk in Type 2 Diabetes as Skeletal Complications of Inadequate Glucose Control: The Rotterdam Study

Author

Oei, Ling, Zillikens, M. Carola, Dehghan, Abbas, Buitendijk, Gabriëlle H.S., Castaño-Betancourt, Martha C., Estrada, Karol, Stolk, Lisette, Oei, Edwin H.G., van Meurs, Joyce B.J., Janssen, Joseph A.M.J.L., Hofman, Albert, van Leeuwen, Johannes P.T.M., Witteman, Jacqueline C.M., Pols, Huibert A.P., Uitterlinden, André G., Klaver, Caroline C.W., Franco, Oscar H., and Rivadeneira, Fernando

Published
2013
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23. Identification of Genetic Loci Associated With Helicobacter pylori Serologic Status

Author

Mayerle, Julia, den Hoed, Caroline M., Schurmann, Claudia, Stolk, Lisette, Homuth, Georg, Peters, Marjolein J., Capelle, Lisette G., Zimmermann, Kathrin, Rivadeneira, Fernando, Gruska, Sybille, Völzke, Henry, de Vries, Annemarie C., Völker, Uwe, Teumer, Alexander, van Meurs, Joyce B., Steinmetz, Ivo, Nauck, Matthias, Ernst, Florian, Weiss, Frank-Ulrich, Hofman, Albert, Zenker, Martin, Kroemer, Heyo K., Prokisch, Holger, Uitterlinden, Andre G., Lerch, Markus M., and Kuipers, Ernst

Published
2013
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24. Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region

Author

Peters, Marjolein J, Broer, Linda, Willemen, Hanneke L D M, Eiriksdottir, Gudny, Hocking, Lynne J, Holliday, Kate L, Horan, Michael A, Meulenbelt, Ingrid, Neogi, Tuhina, Popham, Maria, Schmidt, Carsten O, Soni, Anushka, Valdes, Ana M, Amin, Najaf, Dennison, Elaine M, Eijkelkamp, Niels, Harris, Tamara B, Hart, Deborah J, Hofman, Albert, Huygen, Frank J P M, Jameson, Karen A, Jones, Gareth T, Launer, Lenore J, Kerkhof, Hanneke J M, de Kruijf, Marjolein, McBeth, John, Kloppenburg, Margreet, Ollier, William E, Oostra, Ben, Payton, Antony, Rivadeneira, Fernando, Smith, Blair H, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Thomson, Wendy, Uitterlinden, André G, Wang, Ke, van Wingerden, Sophie H, Arden, Nigel K, Cooper, Cyrus, Felson, David, Gudnason, Vilmundur, Macfarlane, Gary J, Pendleton, Neil, Slagboom, P Eline, Spector, Tim D, Völzke, Henry, Kavelaars, Annemieke, van Duijn, Cornelia M, Williams, Frances M K, and van Meurs, Joyce B J

Published
2013
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25. Genome-Wide Bivariate Association Analysis Identifies Novel Candidate Genes for Ages at Menarche and Natural Menopause and for Bone Mineral Density: The ReproGen and GEFOS Consortia

Author

Hsu, Yi-Hsiang, primary, Chen, Xing, additional, Elks, Cathy, additional, Murabito, Joanne M, additional, Estrada, Karol, additional, Harris, Tamara B, additional, Lunetta, Kathryn L, additional, Murray, Anna, additional, Ong, Ken K, additional, Perry, John RB, additional, Rivadeneira, Fernando R, additional, Stolk, Lisette, additional, Uitterlinden, Andre G, additional, Zillikens, Carola M, additional, Kiel, Douglas P, additional, and Karasik, David, additional

Published
2011
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26. Genome-wide meta-analysis of common variant differences between men and women

Author

Boraska, Vesna, Jerončić, Ana, Colonna, Vincenza, Southam, Lorraine, Nyholt, Dale R., William Rayner, Nigel, Perry, John R.B., Toniolo, Daniela, Albrecht, Eva, Ang, Wei, Bandinelli, Stefania, Barbalic, Maja, Barroso, Inês, Beckmann, Jacques S., Biffar, Reiner, Boomsma, Dorret, Campbell, Harry, Corre, Tanguy, Erdmann, Jeanette, Esko, Tõnu, Fischer, Krista, Franceschini, Nora, Frayling, Timothy M., Girotto, Giorgia, Gonzalez, Juan R., Harris, Tamara B., Heath, Andrew C., Heid, Iris M., Hoffmann, Wolfgang, Hofman, Albert, Horikoshi, Momoko, Hua Zhao, Jing, Jackson, Anne U., Hottenga, Jouke-Jan, Jula, Antti, Kähönen, Mika, Khaw, Kay-Tee, Kiemeney, Lambertus A., Klopp, Norman, Kutalik, Zoltán, Lagou, Vasiliki, Launer, Lenore J., Lehtimäki, Terho, Lemire, Mathieu, Lokki, Marja-Liisa, Loley, Christina, Luan, Jianʼan, Mangino, Massimo, Mateo Leach, Irene, Medland, Sarah E., Mihailov, Evelin, Montgomery, Grant W., Navis, Gerjan, Newnham, John, Nieminen, Markku S., Palotie, Aarno, Panoutsopoulou, Kalliope, Peters, Annette, Pirastu, Nicola, Polašek, Ozren, Rehnström, Karola, Ripatti, Samuli, Ritchie, Graham R.S., Rivadeneira, Fernando, Robino, Antonietta, Samani, Nilesh J., Shin, So-Youn, Sinisalo, Juha, Smit, Johannes H., Soranzo, Nicole, Stolk, Lisette, Swinkels, Dorine W., Tanaka, Toshiko, Teumer, Alexander, Tönjes, Anke, Traglia, Michela, Tuomilehto, Jaakko, Valsesia, Armand, van Gilst, Wiek H., van Meurs, Joyce B.J., Smith, Albert Vernon, Viikari, Jorma, Vink, Jacqueline M., Waeber, Gerard, Warrington, Nicole M., Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Zanke, Brent W., Zgaga, Lina, Boehnke, Michael, dʼAdamo, Adamo Pio, de Geus, Eco, Demerath, Ellen W., den Heijer, Martin, Eriksson, Johan G., Ferrucci, Luigi, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Hengstenberg, Christian, Hudson, Thomas J., Järvelin, Marjo-Riitta, Kogevinas, Manolis, Loos, Ruth J.F., Martin, Nicholas G., Metspalu, Andres, Pennell, Craig E., Penninx, Brenda W., Perola, Markus, Raitakari, Olli, Salomaa, Veikko, Schreiber, Stefan, Schunkert, Heribert, Spector, Tim D., Stumvoll, Michael, Uitterlinden, André G., Ulivi, Sheila, van der Harst, Pim, Vollenweider, Peter, Völzke, Henry, Wareham, Nicholas J., Wichmann, H.-Erich, Wilson, James F., Rudan, Igor, Xue, Yali, and Zeggini, Eleftheria

Published
2012
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28. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

Author

Kerkhof, Hanneke J. M., Lories, Rik J., Meulenbelt, Ingrid, Jonsdottir, Ingileif, Valdes, Ana M., Arp, Pascal, Ingvarsson, Thorvaldur, Jhamai, Mila, Jonsson, Helgi, Stolk, Lisette, Thorleifsson, Gudmar, Zhai, Guangju, Zhang, Feng, Zhu, Yanyan, van der Breggen, Ruud, Carr, Andrew, Doherty, Michael, Doherty, Sally, Felson, David T., Gonzalez, Antonio, Halldorsson, Bjarni V., Hart, Deborah J., Hauksson, Valdimar B., Hofman, Albert, Ioannidis, John P. A., Kloppenburg, Margreet, Lane, Nancy E., Loughlin, John, Luyten, Frank P., Nevitt, Michael C., Parimi, Neeta, Pols, Huibert A. P., Rivadeneira, Fernando, Slagboom, Eline P., Styrkársdóttir, Unnur, Tsezou, Aspasia, van de Putte, Tom, Zmuda, Joseph, Spector, Tim D., Stefansson, Kari, Uitterlinden, André G., and van Meurs, Joyce B. J.

Published
2010
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31. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

Author

Estrada, Karol, Krawczak, Michael, Schreiber, Stefan, van Duijn, Kate, Stolk, Lisette, van Meurs, Joyce B.J., Liu, Fan, Penninx, Brenda W.J.H., Smit, Jan H., Vogelzangs, Nicole, Hottenga, Jouke Jan, Willemsen, Gonneke, de Geus, Eco J.C., Lorentzon, Mattias, von Eller-Eberstein, Huberta, Lips, Paul, Schoor, Natascha, Pop, Victor, de Keijzer, Jules, Hofman, Albert, Aulchenko, Yurii S., Oostra, Ben A., Ohlsson, Claes, Boomsma, Dorret I., Uitterlinden, Andre G., van Duijn, Cornelia M., Rivadeneira, Fernando, and Kayser, Manfred

Published
2009

35. Newborn DNA-methylation, childhood lung function, and the risks of asthma and COPD across the life course

Author

den Dekker, Herman T., primary, Burrows, Kimberley, additional, Felix, Janine F., additional, Salas, Lucas A., additional, Nedeljkovic, Ivana, additional, Yao, Jin, additional, Rifas-Shiman, Sheryl L., additional, Ruiz-Arenas, Carlos, additional, Amin, N., additional, Bustamante, Mariona, additional, DeMeo, Dawn L., additional, Henderson, A. John, additional, Howe, Caitlin G., additional, Hivert, Marie-France, additional, Ikram, M. Arfan, additional, de Jongste, Johan C., additional, Lahousse, Lies, additional, Mandaviya, Pooja R., additional, van Meurs, Joyce B., additional, Pinart, Mariona, additional, Sharp, Gemma C., additional, Stolk, Lisette, additional, Uitterlinden, André G., additional, Anto, Josep M., additional, Litonjua, Augusto A., additional, Breton, Carrie V., additional, Brusselle, Guy G., additional, Sunyer, Jordi, additional, Smith, George Davey, additional, Relton, Caroline L., additional, Jaddoe, Vincent W.V., additional, and Duijts, Liesbeth, additional

Published
2019
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36. Disentangling the genetics of lean mass

Author

Karasik, David, primary, Zillikens, M Carola, additional, Hsu, Yi-Hsiang, additional, Aghdassi, Ali, additional, Akesson, Kristina, additional, Amin, Najaf, additional, Barroso, Inês, additional, Bennett, David A, additional, Bertram, Lars, additional, Bochud, Murielle, additional, Borecki, Ingrid B, additional, Broer, Linda, additional, Buchman, Aron S, additional, Byberg, Liisa, additional, Campbell, Harry, additional, Campos-Obando, Natalia, additional, Cauley, Jane A, additional, Cawthon, Peggy M, additional, Chambers, John C, additional, Chen, Zhao, additional, Cho, Nam H, additional, Choi, Hyung Jin, additional, Chou, Wen-Chi, additional, Cummings, Steven R, additional, de Groot, Lisette C P G M, additional, De Jager, Phillip L, additional, Demuth, Ilja, additional, Diatchenko, Luda, additional, Econs, Michael J, additional, Eiriksdottir, Gudny, additional, Enneman, Anke W, additional, Eriksson, Joel, additional, Eriksson, Johan G, additional, Estrada, Karol, additional, Evans, Daniel S, additional, Feitosa, Mary F, additional, Fu, Mao, additional, Gieger, Christian, additional, Grallert, Harald, additional, Gudnason, Vilmundur, additional, Lenore, Launer J, additional, Hayward, Caroline, additional, Hofman, Albert, additional, Homuth, Georg, additional, Huffman, Kim M, additional, Husted, Lise B, additional, Illig, Thomas, additional, Ingelsson, Erik, additional, Ittermann, Till, additional, Jansson, John-Olov, additional, Johnson, Toby, additional, Biffar, Reiner, additional, Jordan, Joanne M, additional, Jula, Antti, additional, Karlsson, Magnus, additional, Khaw, Kay-Tee, additional, Kilpeläinen, Tuomas O, additional, Klopp, Norman, additional, Kloth, Jacqueline S L, additional, Koller, Daniel L, additional, Kooner, Jaspal S, additional, Kraus, William E, additional, Kritchevsky, Stephen, additional, Kutalik, Zoltán, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Laakso, Markku, additional, Lahti, Jari, additional, Lang, Thomas, additional, Langdahl, Bente L, additional, Lerch, Markus M, additional, Lewis, Joshua R, additional, Lill, Christina, additional, Lind, Lars, additional, Lindgren, Cecilia, additional, Liu, Yongmei, additional, Livshits, Gregory, additional, Ljunggren, Östen, additional, Loos, Ruth J F, additional, Lorentzon, Mattias, additional, Luan, Jian'an, additional, Luben, Robert N, additional, Malkin, Ida, additional, McGuigan, Fiona E, additional, Medina-Gomez, Carolina, additional, Meitinger, Thomas, additional, Melhus, Håkan, additional, Mellström, Dan, additional, Michaëlsson, Karl, additional, Mitchell, Braxton D, additional, Morris, Andrew P, additional, Mosekilde, Leif, additional, Nethander, Maria, additional, Newman, Anne B, additional, O'Connell, Jeffery R, additional, Oostra, Ben A, additional, Orwoll, Eric S, additional, Palotie, Aarno, additional, Peacock, Munro, additional, Perola, Markus, additional, Peters, Annette, additional, Prince, Richard L, additional, Psaty, Bruce M, additional, Räikkönen, Katri, additional, Ralston, Stuart H, additional, Ripatti, Samuli, additional, Rivadeneira, Fernando, additional, Robbins, John A, additional, Rotter, Jerome I, additional, Rudan, Igor, additional, Salomaa, Veikko, additional, Satterfield, Suzanne, additional, Schipf, Sabine, additional, Shin, Chan Soo, additional, Smith, Albert V, additional, Smith, Shad B, additional, Soranzo, Nicole, additional, Spector, Timothy D, additional, Stančáková, Alena, additional, Stefansson, Kari, additional, Steinhagen-Thiessen, Elisabeth, additional, Stolk, Lisette, additional, Streeten, Elizabeth A, additional, Styrkarsdottir, Unnur, additional, Swart, Karin M A, additional, Thompson, Patricia, additional, Thomson, Cynthia A, additional, Thorleifsson, Gudmar, additional, Thorsteinsdottir, Unnur, additional, Tikkanen, Emmi, additional, Tranah, Gregory J, additional, Uitterlinden, André G, additional, van Duijn, Cornelia M, additional, van Schoor, Natasja M, additional, Vandenput, Liesbeth, additional, Vollenweider, Peter, additional, Völzke, Henry, additional, Wactawski-Wende, Jean, additional, Walker, Mark, additional, J Wareham, Nicholas, additional, Waterworth, Dawn, additional, Weedon, Michael N, additional, Wichmann, H-Erich, additional, Widen, Elisabeth, additional, Williams, Frances M K, additional, Wilson, James F, additional, Wright, Nicole C, additional, Yerges-Armstrong, Laura M, additional, Yu, Lei, additional, Zhang, Weihua, additional, Zhao, Jing Hua, additional, Zhou, Yanhua, additional, Nielson, Carrie M, additional, Harris, Tamara B, additional, Demissie, Serkalem, additional, Kiel, Douglas P, additional, and Ohlsson, Claes, additional

Published
2019
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37. Erratum:Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (Nature Communications (2017) 8:80 DOI: 10.1038/s41467-017-00031-7)

Author

Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie A M, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline S L, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Östen, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Melov, Simon, Michaëlsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen C J, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Räikkönen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Soo Shin, Chan, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stančáková, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin M A, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Völzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances M K, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Döring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, André G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth J F, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P

Subjects
Published Erratum
Abstract

The previously published version of this Article contained typographical errors in the spelling of the author names Stephen C. J. Parker and H.-Erich Wichmann, which were incorrectly given as Stephan Parker and H.-Erich Wichman, respectively. Furthermore, Affiliation 53 was incorrectly given as 'Research Group on Geriatrics, The Berlin Aging Study II, ChariteUniversitätsmedizin Berlin, Berlin 13353, Germany', Affiliation 66 was incorrectly given as 'Department of Botany & Plant Sciences, Institute for Integrative Genome Biology, University of California, Riverside, CA 92521, USA', and Affiliation 152 was incorrectly given as 'Group Health Research Institute, Group Health Cooperative, Seattle, WA 98101, USA'. These errors have been corrected in the PDF and HTML versions of the Article.

Published
2017

38. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (vol 8, 80, 2017)

Author

Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltan, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Zhao, Jing Hua, Zhang, Weihua, Aghdassi, Ali, Akesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Ines, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Obanda, Natalia Campos, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Choi, Hyung Jin, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpelanen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Liu, Tian, Liu, Youfang, Ljunggren, Osten, Lorentzon, Mattias, Luben, Robert N, Maixner, William, McGuigan, Fiona E, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Hakan, Mellstrom, Dan, Melov, Simon, Michaelsson, Karl, Mitchell, Braxton D, Morris, Andrew P, Mosekilde, Leif, Newman, Anne, Nielson, Carrie M, O'Connell, Jeffrey R, Oostra, Ben A, Orwoll, Eric S, Palotie, Aarno, Parker, Stephen CJ, Peacock, Munro, Perola, Markus, Peters, Annette, Polasek, Ozren, Prince, Richard L, Raikkonen, Katri, Ralston, Stuart H, Ripatti, Samuli, Robbins, John A, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Satterfield, Suzanne, Schadt, Eric E, Schipf, Sabine, Scott, Laura, Sehmi, Joban, Shen, Jian, Shin, Chan Soo, Sigurdsson, Gunnar, Smith, Shad, Soranzo, Nicole, Stancakova, Alena, Steinhagen-Thiessen, Elisabeth, Streeten, Elizabeth A, Styrkarsdottir, Unnur, Swart, Karin MA, Tan, Sian-Tsung, Tarnopolsky, Mark A, Thompson, Patricia, Thomson, Cynthia A, Thorsteinsdottir, Unnur, Tikkanen, Emmi, Tranah, Gregory J, Tuomilehto, Jaakko, van Schoor, Natasja M, Verma, Arjun, Vollenweider, Peter, Volzke, Henry, Wactawski-Wende, Jean, Walker, Mark, Weedon, Michael N, Welch, Ryan, Wichmann, H-Erich, Widen, Elisabeth, Williams, Frances MK, Wilson, James F, Wright, Nicole C, Xie, Weijia, Yu, Lei, Zhou, Yanhua, Chambers, John C, Doring, Angela, van Duijn, Cornelia M, Econs, Michael J, Gudnason, Vilmundur, Kooner, Jaspal S, Psaty, Bruce M, Spector, Timothy D, Stefansson, Kari, Rivadeneira, Fernando, Uitterlinden, Andre G, Wareham, Nicholas J, Ossowski, Vicky, Waterworth, Dawn, Loos, Ruth JF, Karasik, David, Harris, Tamara B, Ohlsson, Claes, and Kiel, Douglas P

Published
2017

39. Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis

Author

Rivadeneira Fernando, Pols Huibert AP, Nevitt Michael C, Loughlin John, Lane Nancy E, Kloppenburg Margreet, Hofman Albert, Hart Deborah, Gonzalez Antonio, Carr Andrew, Meulenbelt Ingrid, Kerkhof Hanneke JM, Slagboom Eline P, Spector Tim D, Stolk Lisette, Tsezou Aspasia, Uitterlinden André G, Valdes Ana M, and van Meurs Joyce BJ

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background The objective of this study was to examine the relationship between common genetic variation of the ESR2 gene and osteoarthritis. Methods In the discovery study, the Rotterdam Study-I, 7 single nucleotide polymorphisms (SNPs) were genotyped and tested for association with hip (284 cases, 2772 controls), knee (665 cases, 2075 controls), and hand OA (874 cases, 2184 controls) using an additive model. In the replication stage one SNP (rs1256031) was tested in an additional 2080 hip, 1318 knee and 557 hand OA cases and 4001, 2631 and 1699 controls respectively. Fixed- and random-effects meta-analyses were performed over the complete dataset including 2364 hip, 1983 knee and 1431 hand OA cases and approximately 6000 controls. Results The C allele of rs1256031 was associated with a 36% increased odds of hip OA in women of the Rotterdam Study-I (OR 1.36, 95% CI 1.08-1.70, p = 0.009). Haplotype analysis and analysis of knee- and hand OA did not give additional information. With the replication studies, the meta-analysis did not show a significant effect of this SNP on hip OA in the total population (OR 1.06, 95% CI 0.99-1.15, p = 0.10). Stratification according to gender did not change the results. In this study, we had 80% power to detect an odds ratio of at least 1.14 for hip OA (α = 0.05). Conclusion This study showed that common genetic variation in the ESR2 gene is not likely to influence the risk of osteoarthritis with effects smaller than a 13% increase.

Published
2010
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40. Rare coding variants and X-linked loci associated with age at menarche

Author

Lunetta, Kathryn L, Day, Felix R, Sulem, Patrick, Ruth, Katherine S, Tung, Joyce Y, Hinds, David A, Esko, Tõnu, Elks, Cathy E, Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E, Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M, Schick, Ursula M, Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J, Traglia, Michela, Wang, Carol A, Yerges Armstrong, Laura M, Antoniou, Antonis C, Barbieri, Caterina, Coviello, Andrea D, Cucca, Francesco, Demerath, Ellen W, Dunning, Alison M, Gandin, Ilaria, Grove, Megan L, Gudbjartsson, Daniel F, Hocking, Lynne J, Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D, Karasik, David, Kriebel, Jennifer, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Li, Xin, Luan, Jian'An, Mägi, Reedik, Morrison, Alanna C, Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P, Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F, Schlessinger, David, Scott, Robert A, Stöckl, Doris, Visser, Jenny A, Völker, Uwe, Vozzi, Diego, Wilson, James G, Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E, Crisponi, Laura, Easton, Douglas F, Hayward, Caroline, Hu, Frank B, Liu, Simin, Metspalu, Andres, Pennell, Craig E, Ridker, Paul M, Strauch, Konstantin, Streeten, Elizabeth A, Toniolo, Daniela, Uitterlinden, André G, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J, Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I, Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M, Ong, Ken K, Perry, John R. B., PANICO, SALVATORE, Lunetta, Kathryn L, Day, Felix R, Sulem, Patrick, Ruth, Katherine S, Tung, Joyce Y, Hinds, David A, Esko, Tõnu, Elks, Cathy E, Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E, Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M, Schick, Ursula M, Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J, Traglia, Michela, Wang, Carol A, Yerges Armstrong, Laura M, Antoniou, Antonis C, Barbieri, Caterina, Coviello, Andrea D, Cucca, Francesco, Demerath, Ellen W, Dunning, Alison M, Gandin, Ilaria, Grove, Megan L, Gudbjartsson, Daniel F, Hocking, Lynne J, Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D, Karasik, David, Kriebel, Jennifer, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Li, Xin, Luan, Jian'An, Mägi, Reedik, Morrison, Alanna C, Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P, Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F, Schlessinger, David, Scott, Robert A, Stöckl, Dori, Visser, Jenny A, Völker, Uwe, Vozzi, Diego, Wilson, James G, Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E, Crisponi, Laura, Easton, Douglas F, Hayward, Caroline, Hu, Frank B, Liu, Simin, Metspalu, Andre, Pennell, Craig E, Ridker, Paul M, Strauch, Konstantin, Streeten, Elizabeth A, Toniolo, Daniela, Uitterlinden, André G, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J, Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I, Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M, Ong, Ken K, Perry, John R. B., and Panico, Salvatore

Subjects
Adult, Amide, Adolescent, Genotype, European Continental Ancestry Group, Mutation, Missense, Penetrance, RNA-Binding Protein, Young Adult, Gene Frequency, Autoantigen, Genes, X-Linked, Immunoglobulin, Age Factor, Membrane Protein, Aged, Menarche, Chromosomes, Human, X, Hypogonadism, Protein, Genetic Variation, Receptors, Neurokinin-3, Middle Aged, Phenotype, Codon, Nonsense, Female, RNA Interference, Laminin, Energy Metabolism, AMP-Activated Protein Kinase, Fatty Acid, Human, Signal Transduction
Abstract

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P

Published
2015

42. Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men

Author

Eriksson, Anna L, primary, Perry, John R B, additional, Coviello, Andrea D, additional, Delgado, Graciela E, additional, Ferrucci, Luigi, additional, Hoffman, Andrew R, additional, Huhtaniemi, Ilpo T, additional, Ikram, M Arfan, additional, Karlsson, Magnus K, additional, Kleber, Marcus E, additional, Laughlin, Gail A, additional, Liu, Yongmei, additional, Lorentzon, Mattias, additional, Lunetta, Kathryn L, additional, Mellström, Dan, additional, Murabito, Joanne M, additional, Murray, Anna, additional, Nethander, Maria, additional, Nielson, Carrie M, additional, Prokopenko, Inga, additional, Pye, Stephen R, additional, Raffel, Leslie J, additional, Rivadeneira, Fernando, additional, Srikanth, Priya, additional, Stolk, Lisette, additional, Teumer, Alexander, additional, Travison, Thomas G, additional, Uitterlinden, André G, additional, Vaidya, Dhananjay, additional, Vanderschueren, Dirk, additional, Zmuda, Joseph M, additional, März, Winfried, additional, Orwoll, Eric S, additional, Ouyang, Pamela, additional, Vandenput, Liesbeth, additional, Wu, Frederick C W, additional, de Jong, Frank H, additional, Bhasin, Shalender, additional, Kiel, Douglas P, additional, and Ohlsson, Claes, additional

Published
2018
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44. Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair EDITORIAL COMMENT

Author

Day, Felix R., Ruth, Katherine S., Thompson, Deborah J., Lunetta, Kathryn L., Pervjakova, Natalia, Chasman, Daniel I., Stolk, Lisette, Finucane, Hilary K., Sulem, Patrick, Bulik-Sullivan, Brendan, Esko, Tonu, Johnson, Andrew D., Elks, Cathy E., Franceschini, Nora, He, Chunyan, Altmaier, Elisabeth, Brody, Jennifer A., Franke, Lude L., Huffman, Jennifer E., Keller, Margaux F., McArdle, Patrick F., Nutile, Teresa, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Smith, Jennifer A., Teumer, Alexander, Traglia, Michela, Vuckovic, Dragana, Yao, Jie, Zhao, Wei, Albrecht, Eva, Amin, Najaf, Corre, Tanguy, Hottenga, Jouke-Jan, Mangino, Massimo, Smith, Albert V., Tanaka, Toshiko, Abecasis, Goncalo R., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Arndt, Volker, Arnold, Alice M., Barbieri, Caterina, Beckmann, Matthias W., Sanna, Serena, Wolffenbuttel, Bruce B. H. R., Alizadeh, Behrooz Z., Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Lifestyle Medicine (LM), Life Course Epidemiology (LCE), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), and Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET)

Published
2015

45. Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

Author

Kato, Norihiro, Loh, Marie, Takeuchi, Fumihiko, Verweij, Niek, Wang, Xu, Zhang, Weihua, Kelly, Tanika N., Saleheen, Danish, Lehne, Benjamin, Leach, Irene Mateo, Drong, Alexander W., Abbott, James, Wahl, Simone, Tan, Sian-Tsung, Scott, William R., Campanella, Gianluca, Chadeau-Hyam, Marc, Afzal, Uzma, Ahluwalia, Tarunveer S., Bonder, Marc Jan, Chen, Peng, Dehghan, Abbas, Edwards, Todd L., Esko, Tonu, Go, Min Jin, Harris, Sarah E., Hartiala, Jaana, Kasela, Silva, Kasturiratne, Anuradhani, Khor, Chiea-Chuen, Kleber, Marcus E., Li, Huaixing, Mok, Zuan Yu, Nakatochi, Masahiro, Sapari, Nur Sabrina, Saxena, Richa, Stewart, Alexandre F. R., Stolk, Lisette, Tabara, Yasuharu, Teh, Ai Ling, Wu, Ying, Wu, Jer-Yuarn, Zhang, Yi, Aits, Imke, Alves, Alexessander Da Silva Couto, Das, Shikta, Tragante, Vinicius, Doevendans, Pieter A., Spiering, Wilko, Asselbergs, Folkert W., BIOS-consortium, CARDIo GRAMplusCD, LifeLines Cohort Study, and InterAct Consortium

Subjects
PULMONARY ARTERIAL-HYPERTENSION, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S, VARIANTS, REGIONS, INDIVIDUALS, KIDNEY, Research Support, N.I.H., Extramural, CARDIOVASCULAR-DISEASE, TISSUE, RISK-FACTORS, Journal Article, CENTRIC ARRAY, METAANALYSIS
Abstract

We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 x 10(-11) to 5.0 x 10(-21)). The sentinel blood pressure SNPs are enriched for association with DNA methylation at multiple nearby CpG sites, suggesting that, at some of the loci identified, DNA methylation may lie on the regulatory pathway linking sequence variation to blood pressure. The sentinel SNPs at the 12 new loci point to genes involved in vascular smooth muscle (IGFBP3, KCNK3, PDE3A and PRDM6) and renal (ARHGAP24, OSR1, SLC22A7 and TBX2) function. The new and known genetic variants predict increased left ventricular mass, circulating levels of NT-proBNP, and cardiovascular and all-cause mortality (P = 0.04 to 8.6 x 10(-6)). Our results provide new evidence for the role of DNA methylation in blood pressure regulation.

Published
2015

46. Genetically defined elevated homocysteine levels do not result in widespread changes of DNA methylation in leukocytes

Author

Mandaviya, Pooja, Joehanes, Roby, Aïssi, Dylan, Kühnel, Brigitte, Marioni, Riccardo, Truong, Vinh, Stolk, Lisette, Beekman, Marian, Bonder, Jan, Franke, Lude, Gieger, Christian, Huan, Tianxiao, Ikram, M. Arfan, Kunze, Sonja, Liang, Liming, Lindemans, Jan, Liu, Chunyu, McRae, Allan, Mendelson, Michael, Müller-Nurasyid, Martina, Peters, Annette, Slagboom, P. Eline, Starr, John, Trégouët, David-Alexandre, Uitterlinden, Andre, van Greevenbroek, Marleen, Van Heemst, Diana, van Iterson, Maarten, Wells, Philip, Yao, Chen, Deary, Ian, Gagnon, France, Heijmans, Bastiaan, Lévy, Daniel, Morange, Pierre-Emmanuel, Waldenberger, Melanie, Heil, Sandra, van Meurs, Joyce, Zeller, Tanja, Kü Hnel, Brigitte, Bonder, Marc, Tré Gouë T, David-Alexandre, Uitterlinden, André, Clinical Chemistry, Internal Medicine, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Toronto, Molecular Epidemiology, Institute of Experimental Medicine, Czech Academy of Sciences [Prague] (CAS), Metacohorts Consortium, Harvard T.H. Chan School of Public Health, Bioinformatics Research Center, North Carolina State University [Raleigh] (NC State), University of North Carolina System (UNC)-University of North Carolina System (UNC), Center For Narcolepsy, Stanford University, Leiden University Medical Center (LUMC), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Department of neurology, Paris-Jourdan Sciences Economiques (PSE), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Recherche Agronomique (INRA)-École des hautes études en sciences sociales (EHESS)-École des Ponts ParisTech (ENPC)-Centre National de la Recherche Scientifique (CNRS), Fibrinolyse et Pathologie Vasculaire, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition, obésité et risque thrombotique (NORT), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), University Heart Center Hamburg, Netherlands Organization for Scientific Research (NWO) 184021007, Netherlands CardioVascular Research Initiative (Royal Netherlands Academy of Sciences) CVON2011-19, Dutch government NWO 184.021.007, CAN Institute for Cardiometabolism and Nutrition, ANR-10-IAHU-05 National Institutes of Health N01-HC-25195, UK's Biotechnology and Biological Sciences Research Council (BBSRC)1921, Age UK (The Disconnected Mind project) 1936, University of Edinburgh as part of the cross council Lifelong Health and Wellbeing initiative MR/K026992/1, Canadian Institutes of Health Research MOP 86466, Heart and Stroke Foundation of Canada T6484, European Project: 603288,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,SYSVASC(2014), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], Czech Academy of Sciences [Prague] (ASCR), Stanford University [Stanford], École normale supérieure - Paris (ENS Paris)-Institut National de la Recherche Agronomique (INRA)-École des hautes études en sciences sociales (EHESS)-École des Ponts ParisTech (ENPC)-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Universiteit Leiden, Universiteit Leiden-Universiteit Leiden, École normale supérieure - Paris (ENS-PSL), Interne Geneeskunde, and RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome

Subjects
0301 basic medicine, Homocysteine, health care facilities, manpower, and services, [SDV]Life Sciences [q-bio], variabilité génétique, lcsh:Medicine, Social Sciences, Genome-wide association study, VARIANTS, Biochemistry, Cohort Studies, White Blood Cells, chemistry.chemical_compound, Mathematical and Statistical Techniques, 0302 clinical medicine, Sociology, Animal Cells, Consortia, mu-Crystallins, Medicine and Health Sciences, Leukocytes, lcsh:Science, health care economics and organizations, GENE-EXPRESSION, RISK, Genetics, Vegetal Biology, DNA methylation, Multidisciplinary, biology, Autosomes, FOLATE STATUS, Chemical Reactions, homocystéine, Methylation, CANCER, Chromatin, Nucleic acids, Chemistry, CpG site, 030220 oncology & carcinogenesis, Physical Sciences, MENDELIAN RANDOMIZATION, Epigenetics, Chromosomes, Human, Pair 6, Cellular Types, DNA modification, Chromatin modification, Statistics (Mathematics), Research Article, Chromosome biology, Adult, Cell biology, méthylation de l'adn, Immune Cells, education, Immunology, Single-nucleotide polymorphism, Research and Analysis Methods, Polymorphism, Single Nucleotide, Chromosomes, REGION, Molecular Genetics, 03 medical and health sciences, INSTRUMENTAL VARIABLES, Humans, analyse génomique, leucocyte, GENOME-WIDE ASSOCIATION, Statistical Methods, Molecular Biology, METAANALYSIS, Methylenetetrahydrofolate Reductase (NADPH2), Blood Cells, Biology and life sciences, lcsh:R, DNA, Chromosome Pairs, Molecular biology, 030104 developmental biology, chemistry, Genetic Loci, Methylenetetrahydrofolate reductase, biology.protein, lcsh:Q, CpG Islands, Gene expression, Biologie végétale, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Mathematics, Meta-Analysis
Abstract

BackgroundDNA methylation is affected by the activities of the key enzymes and intermediate metabolites of the one-carbon pathway, one of which involves homocysteine. We investigated the effect of the well-known genetic variant associated with mildly elevated homocysteine: MTHFR 677C>T independently and in combination with other homocysteine-associated variants, on genome-wide leukocyte DNA-methylation.MethodsMethylation levels were assessed using Illumina 450k arrays on 9,894 individuals of European ancestry from 12 cohort studies. Linear-mixed-models were used to study the association of additive MTHFR 677C> T and genetic-risk score (GRS) based on 18 homocysteineassociated SNPs, with genome-wide methylation.ResultsMeta-analysis revealed that the MTHFR 677C> T variant was associated with 35 CpG sites in cis, and the GRS showed association with 113 CpG sites near the homocysteine-associated variants. Genome-wide analysis revealed that the MTHFR 677C> T variant was associated with 1 trans-CpG (nearest gene ZNF184), while the GRS model showed association with 5 significant trans-CpGs annotated to nearest genes PTF1A, MRPL55, CTDSP2, CRYM and FKBP5.ConclusionsOur results do not show widespread changes in DNA-methylation across the genome, and therefore do not support the hypothesis that mildly elevated homocysteine is associated with widespread methylation changes in leukocytes.

Published
2017

47. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

Author

Day, Felix R., Hinds, David A., Tung, Joyce Y., Stolk, Lisette, Styrkarsdottir, Unnur, Saxena, Richa, Bjonnes, Andrew, Broer, Linda, Dunger, David B., Halldorsson, Bjarni V., Lawlor, Debbie A., Laval, Guillaume, Mathieson, Iain, McCardle, Wendy L., Louwers, Yvonne, Meun, Cindy, Ring, Susan, Scott, Robert A., Sulem, Patrick, Uitterlinden, André G., Wareham, Nicholas J., Thorsteinsdottir, Unnur, Welt, Corrine, Stefansson, Kari, Laven, Joop S. E., Ong, Ken K., Perry, John R. B., Day, Felix R [0000-0003-3789-7651], Styrkarsdottir, Unnur [0000-0001-8146-8278], Dunger, David B [0000-0002-2566-9304], Sulem, Patrick [0000-0001-7123-6123], Apollo - University of Cambridge Repository, Internal Medicine, and Obstetrics & Gynecology

Subjects
Aging, Ovary, YAP-Signaling Proteins, Phosphoproteins, Article, White People, Acid Anhydride Hydrolases, Neoplasm Proteins, DNA-Binding Proteins, ErbB Receptors, DNA Repair Enzymes, Case-Control Studies, Follicle Stimulating Hormone, beta Subunit, Humans, Female, Selection, Genetic, Adaptor Proteins, Signal Transducing, Genome-Wide Association Study, Polycystic Ovary Syndrome, Transcription Factors
Abstract

Polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women, yet there is little consensus regarding its aetiology. Here we perform a genome-wide association study of PCOS in up to 5,184 self-reported cases of White European ancestry and 82,759 controls, with follow-up in a further ∼2,000 clinically validated cases and ∼100,000 controls. We identify six signals for PCOS at genome-wide statistical significance (P, This paper describes the largest genome-wide association study to date on polycystic ovary syndrome (PCOS), a common reproductive disorder in women. Six genetic loci—including known targets of cancer chemotherapy—were identified, and the authors infer causal and balancing selection mechanisms involved in PCOS risk and susceptibility.

Published
2015

48. Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

Author

Wahl, Simone, primary, Drong, Alexander, additional, Lehne, Benjamin, additional, Loh, Marie, additional, Scott, William R., additional, Kunze, Sonja, additional, Tsai, Pei-Chien, additional, Ried, Janina S., additional, Zhang, Weihua, additional, Yang, Youwen, additional, Tan, Sili, additional, Fiorito, Giovanni, additional, Franke, Lude, additional, Guarrera, Simonetta, additional, Kasela, Silva, additional, Kriebel, Jennifer, additional, Richmond, Rebecca C., additional, Adamo, Marco, additional, Afzal, Uzma, additional, Ala-Korpela, Mika, additional, Albetti, Benedetta, additional, Ammerpohl, Ole, additional, Apperley, Jane F., additional, Beekman, Marian, additional, Bertazzi, Pier Alberto, additional, Black, S. Lucas, additional, Blancher, Christine, additional, Bonder, Marc-Jan, additional, Brosch, Mario, additional, Carstensen-Kirberg, Maren, additional, de Craen, Anton J. M., additional, de Lusignan, Simon, additional, Dehghan, Abbas, additional, Elkalaawy, Mohamed, additional, Fischer, Krista, additional, Franco, Oscar H., additional, Gaunt, Tom R., additional, Hampe, Jochen, additional, Hashemi, Majid, additional, Isaacs, Aaron, additional, Jenkinson, Andrew, additional, Jha, Sujeet, additional, Kato, Norihiro, additional, Krogh, Vittorio, additional, Laffan, Michael, additional, Meisinger, Christa, additional, Meitinger, Thomas, additional, Mok, Zuan Yu, additional, Motta, Valeria, additional, Ng, Hong Kiat, additional, Nikolakopoulou, Zacharoula, additional, Nteliopoulos, Georgios, additional, Panico, Salvatore, additional, Pervjakova, Natalia, additional, Prokisch, Holger, additional, Rathmann, Wolfgang, additional, Roden, Michael, additional, Rota, Federica, additional, Rozario, Michelle Ann, additional, Sandling, Johanna K., additional, Schafmayer, Clemens, additional, Schramm, Katharina, additional, Siebert, Reiner, additional, Slagboom, P. Eline, additional, Soininen, Pasi, additional, Stolk, Lisette, additional, Strauch, Konstantin, additional, Tai, E-Shyong, additional, Tarantini, Letizia, additional, Thorand, Barbara, additional, Tigchelaar, Ettje F., additional, Tumino, Rosario, additional, Uitterlinden, Andre G., additional, van Duijn, Cornelia, additional, van Meurs, Joyce B. J., additional, Vineis, Paolo, additional, Wickremasinghe, Ananda Rajitha, additional, Wijmenga, Cisca, additional, Yang, Tsun-Po, additional, Yuan, Wei, additional, Zhernakova, Alexandra, additional, Batterham, Rachel L., additional, Smith, George Davey, additional, Deloukas, Panos, additional, Heijmans, Bastiaan T., additional, Herder, Christian, additional, Hofman, Albert, additional, Lindgren, Cecilia M., additional, Milani, Lili, additional, van der Harst, Pim, additional, Peters, Annette, additional, Illig, Thomas, additional, Relton, Caroline L., additional, Waldenberger, Melanie, additional, Järvelin, Marjo-Riitta, additional, Bollati, Valentina, additional, Soong, Richie, additional, Spector, Tim D., additional, Scott, James, additional, McCarthy, Mark I., additional, Elliott, Paul, additional, Bell, Jordana T., additional, Matullo, Giuseppe, additional, Gieger, Christian, additional, Kooner, Jaspal S., additional, Grallert, Harald, additional, and Chambers, John C., additional

Published
2016
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49. Rare coding variants and X-linked loci associated with age at menarche

Author

Lunetta, Kathryn L., Day, Felix R., Sulem, Patrick, Ruth, Katherine S., Tung, Joyce Y., Hinds, David A., Esko, Tonu, Elks, Cathy E., Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E., Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J., Traglia, Michela, Wang, Carol A., Yerges-Armstrong, Laura M., Antoniou, Antonis C., Barbieri, Caterina, Coviello, Andrea D., Cucca, Francesco, Demerath, Ellen W., Dunning, Alison M., Gandin, Ilaria, Grove, Megan L., Gudbjartsson, Daniel F., Hocking, Lynne J., Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D., Karasik, David, Kriebel, Jennifer, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Li, Xin, Luan, Jian'an, Maegi, Reedik, Morrison, Alanna C., Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P., and van der Schouw, Yvonne T.

Subjects
SUSCEPTIBILITY LOCI, IDENTIFICATION, MUTATIONS, LAMB2, GENOME-WIDE ASSOCIATION, CANCER, METAANALYSIS
Abstract

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P

Published
2015

50. Additional file 4: Table S4. of Prenatal parental tobacco smoking, gene specific DNA methylation, and newborns size: the Generation R study

Author

Bouwland-Both, Marieke, Mil, Nina Van, Tolhoek, Catharina, Stolk, Lisette, Eilers, Paul, Verbiest, Michael, Heijmans, Bastiaan, Uitterlinden, André, Hofman, Albert, Ijzendoorn, Marinus Van, Duijts, Liesbeth, Jongste, Johan De, Tiemeier, Henning, Steegers, Eric, Jaddoe, Vincent, and Steegers-Theunissen, Régine

Abstract

Details of measured amplicons and PCR primers. 1 Genome built: GRch 37.67. 2 Forward and reverse primer that will amplify the bisulphite converted genomic DNA. According to the MassARRAY EpiTYPER technology, taqs were added to the 5'end of the primers. Forward primer: 10mer spacer tag is added at the 5′ primer end with the following sequence: 5′-AGGAAGAGAG + primer. Reverse primer: T7 promoter is added to the 5′ primer end with the following sequence: 5′-CAGTAATACGACTCACTATAGGGAGAAGGCT + primer.

Published
2015
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