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Genetic Regulation of Puberty Timing in Humans.


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Authors

Day, Felix R 
Perry, John RB 
Ong, Ken K 

Abstract

Understanding the regulation of puberty timing has relevance to developmental and human biology and to the pathogenesis of various diseases. Recent large-scale genome-wide association studies on 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 a 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 on 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.

Description

Keywords

Puberty, Genetics, Menarche, Imprinted genes, Body mass index, Obesity

Journal Title

Neuroendocrinology

Conference Name

Journal ISSN

0028-3835
1423-0194

Volume Title

Publisher

S. Karger AG
Sponsorship
Medical Research Council (MC_UU_12015/2)
Medical Research Council (MC_U106179472)
This work was supported by the MRC.