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    Molecular insights into the aetiology of female reproductive ageing

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    URI
    http://hdl.handle.net/11287/593966
    Author
    Perry, J. R.
    Murray, Anna
    Day, F. R.
    Ong, K. K.
    Date
    2015-10-13
    Journal
    Nature reviews. Endocrinology
    Type
    Journal Article
    Review
    Publisher
    Nature
    DOI
    10.1038/nrendo.2015.167
    Metadata
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    Abstract
    As age at pubertal onset declines and age at first pregnancy increases, the mechanisms that regulate female reproductive lifespan become increasingly relevant to population health. The timing of menarche and menopause can have profound effects not only on fertility but also on the risk of diseases such as type 2 diabetes mellitus, cardiovascular disease and breast cancer. Genetic studies have identified dozens of highly penetrant rare mutations associated with reproductive disorders, and also approximately 175 common genetic variants associated with the timing of puberty or menopause. These findings, alongside other functional studies, have highlighted a diverse range of mechanisms involved in reproductive ageing, implicating core biological processes such as cell cycle regulation and energy homeostasis. The aim of this article is to review the contribution of such genetic findings to our understanding of the molecular regulation of reproductive timing, as well as the biological basis of the epidemiological links between reproductive ageing and disease risk.
    Citation
    Nat Rev Endocrinol. 2015 Dec;11(12):725-34.
    Publisher URL
    http://dx.doi.org/10.1038/nrendo.2015.167
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