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

Author

Listed:
  • Kathryn L. Lunetta

    (Boston University School of Public Health
    NHLBI's and Boston University's Framingham Heart Study)

  • 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
    Boston Children's Hospital
    Harvard Medical School
    Broad Institute of the Massachusetts Institute of Technology and Harvard University)

  • 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
    Institute of Genetic Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health)

  • Chunyan He

    (Indiana University Richard M. Fairbanks School of Public Health
    Indiana University Melvin and Bren Simon Cancer Center)

  • 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
    University of Sassari
    Center for Statistical Genetics, Ann Arbor, University of Michigan)

  • 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
    University of Sassari)

  • 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”
    Surgical and Health, University of Trieste)

  • 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.
    School of Engineering and Natural Sciences, University of Iceland)

  • 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
    Harvard Medical School)

  • Jennifer Kriebel

    (Research Unit of Molecular Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health
    German Center for Diabetes Research)

  • Ethan M. Lange

    (University of North Carolina
    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
    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
    Harvard Medical School)

  • Laura Crisponi

    (Institute of Genetics and Biomedical Research, National Research Council)

  • Douglas F. Easton

    (Centre for Cancer Genetic Epidemiology, University of Cambridge
    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
    Brigham and Women’s Hospital and Harvard Medical School
    Harvard School of Public Health)

  • Simin Liu

    (Brown University)

  • Andres Metspalu

    (Estonian Genome Center, University of Tartu
    Institute of Molecular and Cell Biology, 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
    Harvard Medical School)

  • Konstantin Strauch

    (Institute of Genetic Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health
    Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität)

  • 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
    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
    Harvard Medical School)

  • Unnur Thorsteinsdottir

    (deCODE genetics/Amgen, Inc.
    Faculty of Medicine, University of Iceland)

  • Anna Murray

    (Genetics of Complex Traits, University of Exeter Medical School, University of Exeter)

  • Kari Stefansson

    (deCODE genetics/Amgen, Inc.
    Faculty of Medicine, University of Iceland)

  • Joanne M. Murabito

    (NHLBI's and Boston University's Framingham Heart Study
    Boston University School of Medicine, Section of General Internal Medicine)

  • Ken K. Ong

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine
    University of Cambridge)

  • John R. B. Perry

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine)

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

Suggested Citation

  • 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 Miha, 2015. "Rare coding variants and X-linked loci associated with age at menarche," Nature Communications, Nature, vol. 6(1), pages 1-8, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8756
    DOI: 10.1038/ncomms8756
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