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Chunk #20 — RESULTS — Functional SNP and structural assessment — Expression QTLs

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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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Three of the 42 known, confirmed or possible novel menarche variants were highly significantly cis-associated with mRNA expression (P<1×10−6 for mRNA transcript abundance), based on publicly available data from lymphoblastoid cell lines on 400 children (mRNA by SNP Browser). These transcripts were in GAB2 (associated with rs10899489), RBM6 (rs6762477) and NARG2 (rs3743266) (Supplementary Table 10). As these genomic loci included a number of genes (Supplementary Fig. 3), these specific transcript associations inform the likely functional gene at each locus.