Rare coding variants and X-linked loci associated with age at menarche

Kathryn L. Lunetta, Felix R. Day, Patrick Sulem, Katherine S. Ruth, Joyce Y. Tung, David A. Hinds, Tõnu Esko, Cathy E. Elks, Elisabeth Altmaier, Chunyan He, Jennifer E. Huffman, Evelin Mihailov, Eleonora Porcu, Antonietta Robino, Lynda M. Rose, Ursula M. Schick, Lisette Stolk, Alexander Teumer, Deborah J. Thompson, Michela Traglia, Carol A. Wang, Laura M. Yerges-Armstrong, Antonis C. Antoniou, Caterina Barbieri, Andrea D. Coviello, Francesco Cucca, Ellen W. Demerath, Alison M. Dunning, Ilaria Gandin, Megan L. Grove, Daniel F. Gudbjartsson, Lynne J. Hocking, Albert Hofman, Jinyan Huang, Rebecca D. Jackson, David Karasik, Jennifer Kriebel, Ethan M. Lange, Leslie A. Lange, Claudia Langenberg, Xin Li, Jian'an Luan, Reedik Mägi, Alanna C. Morrison, Sandosh Padmanabhan, Ailith Pirie, Ozren Polasek, David Porteous, Alex P. Reiner, Fernando Rivadeneira, Igor Rudan, Cinzia F. Sala, David Schlessinger, Robert A. Scott, Doris Stöckl, Jenny A. Visser, Uwe Völker, Diego Vozzi, James G. Wilson, Marek Zygmunt, Eric Boerwinkle, Julie E. Buring, Laura Crisponi, Douglas F. Easton, Caroline Hayward, Frank B. Hu, Simin Liu, Andres Metspalu, Craig E. Pennell, Paul M. Ridker, Konstantin Strauch, Elizabeth A. Streeten, Daniela Toniolo, André G. Uitterlinden, Sheila Ulivi, Henry Völzke, Nicholas J. Wareham, Melissa Wellons, Nora Franceschini, Daniel I. Chasman, Unnur Thorsteinsdottir, Anna Murray, Kari Stefansson, Joanne M. Murabito, Ken K. Ong () and John R. B. Perry ()
Additional contact information
Kathryn L. Lunetta: Boston University School of Public Health
Felix R. Day: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
Patrick Sulem: deCODE genetics/Amgen, Inc.
Katherine S. Ruth: Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
Joyce Y. Tung: 23andMe Inc.
David A. Hinds: 23andMe Inc.
Tõnu Esko: Estonian Genome Center, University of Tartu
Cathy E. Elks: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
Elisabeth Altmaier: Research Unit of Molecular Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health
Chunyan He: Indiana University Richard M. Fairbanks School of Public Health
Jennifer E. Huffman: Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Evelin Mihailov: Estonian Genome Center, University of Tartu
Eleonora Porcu: Institute of Genetics and Biomedical Research, National Research Council
Antonietta Robino: Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”
Lynda M. Rose: Brigham and Women's Hospital
Ursula M. Schick: Fred Hutchinson Cancer Research Center
Lisette Stolk: Erasmus MC
Alexander Teumer: Institute for Community Medicine, University Medicine Greifswald
Deborah J. Thompson: Centre for Cancer Genetic Epidemiology, University of Cambridge
Michela Traglia: San Raffaele Scientific Institute
Carol A. Wang: School of Women's and Infants' Health, The University of Western Australia
Laura M. Yerges-Armstrong: Program in Personalized Medicine, Diabetes and Nutrition—University of Maryland School of Medicine
Antonis C. Antoniou: Centre for Cancer Genetic Epidemiology, University of Cambridge
Caterina Barbieri: San Raffaele Scientific Institute
Andrea D. Coviello: Boston University School of Medicine, Sections of Preventive Medicine and Endocrinology
Francesco Cucca: Institute of Genetics and Biomedical Research, National Research Council
Ellen W. Demerath: University of Minnesotta
Alison M. Dunning: Centre for Cancer Genetic Epidemiology, University of Cambridge
Ilaria Gandin: Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”
Megan L. Grove: Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston
Daniel F. Gudbjartsson: deCODE genetics/Amgen, Inc.
Lynne J. Hocking: Musculoskeletal Research Programme, University of Aberdeen
Albert Hofman: Erasmus MC
Jinyan Huang: State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine
Rebecca D. Jackson: The Ohio State University
David Karasik: Hebrew SeniorLife Institute for Aging Research
Jennifer Kriebel: Research Unit of Molecular Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health
Ethan M. Lange: University of North Carolina
Leslie A. Lange: University of North Carolina
Claudia Langenberg: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
Xin Li: Harvard School of Public Health
Jian'an Luan: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
Reedik Mägi: Estonian Genome Center, University of Tartu
Alanna C. Morrison: Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston
Sandosh Padmanabhan: British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow
Ailith Pirie: Centre for Cancer Genetic Epidemiology, University of Cambridge
Ozren Polasek: Faculty of Medicine, University of Split
David Porteous: Medical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh
Alex P. Reiner: Fred Hutchinson Cancer Research Center
Fernando Rivadeneira: Erasmus MC
Igor Rudan: Institute for Population Health Sciences and Informatics, University of Edinburgh, Teviot Place
Cinzia F. Sala: San Raffaele Scientific Institute
David Schlessinger: National Institute on Aging, Intramural Research Program
Robert A. Scott: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
Doris Stöckl: Institute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health
Jenny A. Visser: Erasmus MC
Uwe Völker: Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald
Diego Vozzi: Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”
James G. Wilson: University of Mississippi Medical Center
Marek Zygmunt: University Medicine Greifswald
Eric Boerwinkle: Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston
Julie E. Buring: Brigham and Women's Hospital
Laura Crisponi: Institute of Genetics and Biomedical Research, National Research Council
Douglas F. Easton: Centre for Cancer Genetic Epidemiology, University of Cambridge
Caroline Hayward: Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
Frank B. Hu: Harvard School of Public Health
Simin Liu: Brown University
Andres Metspalu: Estonian Genome Center, University of Tartu
Craig E. Pennell: School of Women's and Infants' Health, The University of Western Australia
Paul M. Ridker: Brigham and Women's Hospital
Konstantin Strauch: Institute of Genetic Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health
Elizabeth A. Streeten: Program in Personalized Medicine, Diabetes and Nutrition—University of Maryland School of Medicine
Daniela Toniolo: San Raffaele Scientific Institute
André G. Uitterlinden: Erasmus MC
Sheila Ulivi: Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”
Henry Völzke: Institute for Community Medicine, University Medicine Greifswald
Nicholas J. Wareham: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
Melissa Wellons: Vanderbilt University Medical Center
Nora Franceschini: University of North Carolina
Daniel I. Chasman: Brigham and Women's Hospital
Unnur Thorsteinsdottir: deCODE genetics/Amgen, Inc.
Anna Murray: Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
Kari Stefansson: deCODE genetics/Amgen, Inc.
Joanne M. Murabito: NHLBI's and Boston University's Framingham Heart Study
Ken K. Ong: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
John R. B. Perry: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine

Nature Communications, 2015, vol. 6, issue 1, 1-8

Abstract: 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

Date: 2015
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DOI: 10.1038/ncomms8756

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