Genome wide association analysis of age at menarche, menopause and menses cycle

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Age at menarche (AAM) is a complex trait involving both genetic and environmental factors. To identify the genetic factors associated with AAM, we conducted a large scale meta-analysis of genome-wide association studies using more than15,000 Japanese female samples. Here we identified an association between SNP (single nucleotide polymorphism) rs364663 at the LIN28B locus and AAM, with a P-value of 5.49 x10-7 and an effect size of 0.089 (year). We also evaluated 33 SNPs that were previouslyreported to be associated with AAM in women of European ancestry. Among them, two SNPs rs4452860 and rs7028916 in TMEM38B indicated significant association with AAM in the same directions as reported in previous studies (P = 0.0013 with an effect size of0.051) even after Bonferroni correction for the 33 SNPs. Our findings elucidated the impact of genetic variations on AAM in the Japanese population.