Nature · 2014

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

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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, Zhao Jing Hua, 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, Coveillo Andrea D, Cox Angela, Czene Kamila, D'adamo Adamo Pio, Smith George Davey, 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, Kiel Douglas P, Knight Julia A, Kosma Veli-Matti, Kutalik Zoltan, Lai Sandra, Lambrechts Diether, Lindblom Annika, Mägi Reedik, Magnusson Patrik K, Mannermaa Arto, Martin Nicholas G, Masson Gisli, McArdle Patrick F, McArdle Wendy L, Melbye Mads, Michailidou Kyriaki, Mihailov Evelin, Milani Lili, Milne Roger L, Nevanlinna Heli, Neven Patrick, Nohr Ellen A, Oldehinkel Albertine J, Oostra Ben A, Palotie Aarno, Peacock Munro, Pedersen Nancy L, Peterlongo Paolo, Peto Julian, Pharoah Paul Dp, Postma Dirkje S, Pouta Anneli, Pylkäs Katri, Radice Paolo, Ring Susan, Rivadeneira Fernando, Robino Antonietta, Rose Lynda M, Rudolph Anja, Salomaa Veikko, Sanna Serena, Schlessinger David, Schmidt Marjanka K, Southey Mellissa C, Sovio Ulla, Stampfer Meir J, Stöckl Doris, Storniolo Anna M, Timpson Nicholas J, Tyrer Jonathan, Visser Jenny A, Vollenweider Peter, Völzke Henry, Waeber Gerard, Waldenberger Melanie, Wallaschofski Henri, Wang Qin, Willemsen Gonneke, Winqvist Robert, Wolffenbuttel Bruce Hr, Wright Margaret J, Australian Ovarian Cancer Study, GENICA Network, kConFab, LifeLines Cohort Study, InterAct Consortium, Early Growth Genetics (EGG) Consortium, Boomsma Dorret I, Econs Michael J, Khaw Kay-Tee, Loos Ruth Jf, McCarthy Mark I, Montgomery Grant W, Rice John P, Streeten Elizabeth A, Thorsteinsdottir Unnur, van Duijn Cornelia M, Alizadeh Behrooz Z, Bergmann Sven, Boerwinkle Eric, Boyd Heather A, Crisponi Laura, Gasparini Paolo, Gieger Christian, Harris Tamara B, Ingelsson Erik, Järvelin Marjo-Riitta, Kraft Peter, Lawlor Debbie, Metspalu Andres, Pennell Craig E, Ridker Paul M, Snieder Harold, Sørensen Thorkild Ia, Spector Tim D, Strachan David P, Uitterlinden André G, Wareham Nicholas J, Widen Elisabeth, Zygmunt Marek, Murray Anna, Easton Douglas F, Stefansson Kari, Murabito Joanne M, Ong Ken K

Аннотация

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 < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.

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

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