Letter abstract


Nature Genetics 41, 724 - 728 (2009)
Published online: 17 May 2009 | doi:10.1038/ng.385

Genome-wide association studies identify loci associated with age at menarche and age at natural menopause

Chunyan He1,2, Peter Kraft1,2, Constance Chen1,2, Julie E Buring2,3,4, Guillaume Paré3,4,5, Susan E Hankinson2,6, Stephen J Chanock7, Paul M Ridker2,3,4,5, David J Hunter1,2,6,7,8 & Daniel I Chasman3,4,5

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Age at menarche and age at natural menopause are associated with causes of substantial morbidity and mortality such as breast cancer and cardiovascular disease. We conducted a joint analysis of two genome-wide association studies of these two traits in a total of 17,438 women from the Nurses' Health Study (NHS, N = 2,287) and the Women's Genome Health Study (WGHS, N = 15,151). For age at menarche, we identified ten associated SNPs (P = 1 times 10-7–3 times 10-13) clustered at 6q21 (in or near the gene LIN28B) and 9q31.2 (in an intergenic region). For age at natural menopause, we identified 13 associated SNPs (P = 1 times 10-7–1 times 10-21) clustered at 20p12.3 (in the gene MCM8), 19q13.42 (in or near the gene BRSK1), 5q35.2 (in or near genes UIMC1 and HK3) and 6p24.2 (in the gene SYCP2L). These newly identified loci might expand understanding of the biological pathways regulating these two traits.

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  1. Program in Molecular and Genetic Epidemiology, Boston, Massachusetts, USA.
  2. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
  3. Donald W. Reynolds Center for Cardiovascular Research, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  4. Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  5. Center for Cardiovascular Disease Prevention, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  6. Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  7. Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.
  8. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Correspondence to: Chunyan He1,2 e-mail: che@hsph.harvard.edu



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