Genome-wide association studies of age at menarche and age at natural menopause

Chunyan He, Joanne M. Murabito

Research output: Contribution to journalReview articlepeer-review

44 Scopus citations


Genome-wide association studies (GWAS) have been successful in uncovering genetic determinants of age at menarche and age at natural menopause. To date, more than 30 novel genetic loci have been identified in GWAS for age at menarche and 17 for age at natural menopause. These findings have stimulated a plethora of follow-up studies particularly with respect to the functional characterization of these novel loci and how these results can be translated into risk prediction. However, the genetic loci identified so far account for only a small fraction of the overall heritability. This review provides an overview of the current state of our knowledge of the genetic basis of menarche and menopause timing. It emphasizes recent GWAS results and outlines strategies for discovering the missing heritability and strategies to further our understanding of the underlying molecular mechanisms of the observed genetic associations.

Original languageEnglish
Pages (from-to)767-779
Number of pages13
JournalMolecular and Cellular Endocrinology
Issue number1
StatePublished - Jan 25 2014


  • Age at menarche
  • Age at natural menopause
  • Candidate gene association studies
  • Genome-wide association studies
  • Linkage analysis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology


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