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

Chunyan He, Joanne M. Murabito

    Research output: Contribution to journalReview article

    29 Scopus citations

    Abstract

    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 (US)
    Pages (from-to)767-779
    Number of pages13
    JournalMolecular and Cellular Endocrinology
    Volume382
    Issue number1
    DOIs
    StatePublished - Jan 25 2014

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    Keywords

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

    ASJC Scopus subject areas

    • Endocrinology
    • Molecular Biology
    • Biochemistry

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