In a large analysis of data from 182,416 women of European descent, 123 genetic signals at 106 loci were found to be associated with age at menarche. Many of the identified signals were in or near genes associated with pubertal characteristics in both sexes, with BMI and with several diseases, including rare Mendelian disorders of puberty. Signals associated with age at menarche were also found in imprinted regions. The study results highlight novel mechanisms involved in the regulation of pubertal timing.
References
Perry, J. R. B. et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 10.1038/nature13545
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Common variants associated with age at menarche. Nat Rev Endocrinol 10, 578 (2014). https://doi.org/10.1038/nrendo.2014.136
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DOI: https://doi.org/10.1038/nrendo.2014.136
