Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Nat Genet. 2015 Nov;47(11):1294-1303. doi: 10.1038/ng.3412. Epub 2015 Sep 28.

Abstract

Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.

Publication types

  • Research Support, American Recovery and Reinvestment Act
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Age Factors
  • Aging / genetics
  • BRCA1 Protein / genetics*
  • Breast Neoplasms / genetics*
  • DNA Repair*
  • Female
  • Gene Regulatory Networks / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation
  • Genome-Wide Association Study / methods
  • Genomics / methods
  • Genotype
  • Humans
  • Hypothalamus / metabolism*
  • Menopause / genetics
  • Middle Aged
  • Models, Genetic
  • Phenotype
  • Reproduction / genetics
  • Signal Transduction / genetics*

Substances

  • BRCA1 Protein

Grants and funding