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Chunk #13 — RESULTS — Roles of genes at/near novel loci (Supplementary Table 7)

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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
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rs852069 (P=3.3×10−8) lies ~84kb from PCSK2, which encodes proprotein convertase subtilisin/kexin type 2, an enzyme that cleaves latent precursor proteins, such as proinsulin and proopiomelanocortin, into their biologically active products. While rare deleterious mutations and common variants in PCSK1 are known to influence obesity risk, it is notable that PCSK2 differs from PCSK1 in that it additionally cleaves proluteinizing-hormone-releasing hormone and could therefore have a more direct influence on the reproductive hormone axis.