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. 2016 Sep 14;38(5-6):513–523. doi: 10.1007/s11357-016-9939-5

Table 2.

SNPs showing strong associations (with combined P < 1 × 10−5 and in same association direction across three data sets) with puberty and natural menopause timing in East Asian women

SGWAS (8073/3556)a Stage II (8322/5108)a Combined (16395/8664)b
SNP Chr Base positionc Nearby gene Allelesd EAFe Beta(SE) P Beta (SE) P Beta (SE) P_METAL P_het
Age at menarche
 rs79195475 10 66964843 intergenic T/C 0.75 −0.135 (0.032) 2.2 × 10−5 −0.089 (0.042) 0.035 −0.118 (0.026) 3.4 × 10−6 0.383
 rs1023935 4 35150284 intergenic T/C 0.89 −0.200 (0.044) 4.9 × 10−6 −0.084 (0.046) 0.066 −0.145 (0.032) 4.9 × 10−6 0.067
Age at natural menopause
 rs3818134 22 31926725 SFI1 T/C 0.36 −0.454 (0.089) 3.5 × 10−7 −0.108 (0.087) 0.214 −0.276 (0.062) 8.8 × 10−6 0.005

SNP single-nucleotide polymorphism, SGWAS the Shanghai Genome-Wide Association Studies, Chr chromosome, EAF effective allele frequency, SE standard error, P_METAL P value from meta-analysis using METAL, P_het P value from between-study heterogeneity test

aNumbers in parentheses indicate sample size for age at menarche and age at natural menopause, respectively

bMeta-analysis using the inverse-variance-weighted models in METAL

cChromosome position based on NCBI human genome build 37 from the 1000 Genomes Project

dShown as effect allele/other allele

eEffect allele frequencies estimated from 6541 samples in breast cancer, endometrial, and T2D GWAS from the Shanghai cohort