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Title: Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Authors: Perry, John R B ×
Day, Felix
Elks, Cathy E
Sulem, Patrick
Thompson, Deborah J
Ferreira, Teresa
He, Chunyan
Chasman, Daniel I
Esko, Tõnu
Thorleifsson, Gudmar
Albrecht, Eva
Knight, Julia A
Kosma, Veli-Matti
Kutalik, Zoltan
Lai, Sandra
Lambrechts, Diether
Lindblom, Annika
Mägi, Reedik
Magnusson, Patrik K
Mannermaa, Arto
Martin, Nicholas G
Ang, Wei Q
Masson, Gisli
McArdle, Patrick F
McArdle, Wendy L
Melbye, Mads
Michailidou, Kyriaki
Mihailov, Evelin
Milani, Lili
Milne, Roger L
Nevanlinna, Heli
Neven, Patrick
Corre, Tanguy
Nohr, Ellen A
Oldehinkel, Albertine J
Oostra, Ben A
Palotie, Aarno
Peacock, Munro
Pedersen, Nancy L
Peterlongo, Paolo
Peto, Julian
Pharoah, Paul D P
Postma, Dirkje S
Cousminer, Diana L
Pouta, Anneli
Pylkäs, Katri
Radice, Paolo
Ring, Susan
Rivadeneira, Fernando
Robino, Antonietta
Rose, Lynda M
Rudolph, Anja
Salomaa, Veikko
Sanna, Serena
Feenstra, Bjarke
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
Franceschini, Nora
Vollenweider, Peter
Völzke, Henry
Waeber, Gerard
Waldenberger, Melanie
Wallaschofski, Henri
Wang, Qin
Willemsen, Gonneke
Winqvist, Robert
Wolffenbuttel, Bruce H R
Wright, Margaret J
Ganna, Andrea
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 J F
Johnson, Andrew D
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
Kjellqvist, Sanela
Crisponi, Laura
Gasparini, Paolo
Gieger, Christian
Harris, Tamara B
Ingelsson, Erik
Järvelin, Marjo-Riitta
Kraft, Peter
Lawlor, Debbie
Metspalu, Andres
Pennell, Craig E
Lunetta, Kathryn L
Ridker, Paul M
Snieder, Harold
Sørensen, Thorkild I A
Spector, Tim D
Strachan, David P
Uitterlinden, André G
Wareham, Nicholas J
Widen, Elisabeth
Zygmunt, Marek
Murray, Anna
McMahon, George
Easton, Douglas F
Stefansson, Kari
Murabito, Joanne M
Ong, Ken K #
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 E J
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
Issue Date: Oct-2014
Publisher: Nature Publishing Group
Series Title: Nature vol:514 issue:7520 pages:92-7
Article number: 10.1038/nature13545
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 < 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.
ISSN: 0028-0836
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Translational Genetics (Vesalius Research Center) (+)
Gynaecological Oncology
× corresponding author
# (joint) last author

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