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Karger Publishers, Neuroendocrinology, 4(102), p. 247-255

DOI: 10.1159/000431023



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Genetic regulation of puberty timing in humans

Journal article published in 2015 by Felix R. Day ORCID, John R. B. Perry, Ken K. Ong
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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This is the author accepted manuscript. The final version is available from Karger at ; Understanding the regulation of pubertal timing has relevance to developmental and human biology, and to the pathogenesis of various diseases. Recent large-scale genome-wide association studies for puberty timing and adult height, body mass index (BMI) and central body shape provide evidence for shared biological mechanisms that regulate these traits. There is substantial genetic overlap between age at menarche in women and BMI, with almost invariable directional consistency with the epidemiological associations between earlier menarche and higher BMI. By contrast, the genetic loci identified for age at menarche are largely distinct from those identified for central body shape, while alleles that confer earlier menarche can be associated with taller or shorter adult height. The findings of population-based studies for age at menarche show increasing relevance for other studies of rare monogenic disorders and enrich our understanding of the mechanisms that regulate the timing of puberty and reproductive function. ; This work was supported by the MRC.