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Meta-analysis of genome-wide association data identifies two loci influencing age at menarche


We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10−9), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10−9), which also influences adult height. We provide the first evidence for common genetic variants influencing female sexual maturation.

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Figure 1: Genomic context (based on NCBI B36) of the top two independent signals at 9q31.2 and 6q21 plotted against association −log10 P values.

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We are indebted to the participants and staff of the studies for their important contributions. Full individual study acknowledgements are listed in the Supplementary Methods.

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Statistical analyses: J.R.B.P., L.S., N.F., K.L.L., G.Z., P.F.M., A.V.S., T.A., K.E., V.G., F.R., N.S., T.T., M.N.W. and V.Z. Sample collection, preparation: N.F., A.V.S., T.A., S.B., E.B., L.C., G.E., L.F., A.R.F., V.G., A.H., S.G.W., T.B.H., T.D.S., E.W.D. and A.G.U. Genotyping: E.B., F.R., A.S., N.S. and A.G.U. Manuscript writing: J.R.B.P., L.S., P.F.M., A.V.S., T.A., G.E., V.G., E.A.S., A.M., E.W.D. and A.G.U. Review and revision of the manuscript: J.R.B.P., L.S., N.F., K.L.L., G.Z., P.F.M., A.V.S., T.A., S.B., E.B., L.C., G.E., K.E., L.F., A.R.F., M.G., V.G., A.H., D.K., D.P.K., L.J.L., J.v.M., M.A.N., F.R., A.R.S., A.S., N.S., T.T., J.A.V., M.N.W., S.G.W., V.Z., E.A.S., T.B.H., A.M., T.D.S., E.W.D., A.G.U. and J.M.M. Intellectual input: J.R.B.P., L.S., N.F., K.L.L., P.F.M., E.B., G.E., A.R.F., V.G., D.K., D.P.K., J.A.V., S.G.W., A.M., A.G.U. and J.M.M. Study design: J.R.B.P., L.S., K.L.L., G.Z., A.V.S., T.A., S.B., G.E., L.F., V.G., A.H., D.K., D.P.K., A.M., T.D.S., A.G.U. and J.M.M.

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Correspondence to André G Uitterlinden.

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Supplementary Figures 1 and 2, Supplementary Tables 1–4, Supplementary Methods and Supplementary Note (PDF 437 kb)

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Perry, J., Stolk, L., Franceschini, N. et al. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet 41, 648–650 (2009).

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