We sought confirmation of the 40 possible novel menarche loci in up to 14,731 women from 16 additional studies with in silico GWAS data and new genotyping data from one cohort (Supplementary Tables 4 & 5). This replication sample was substantially smaller than our Stage 1 sample, and therefore underpowered to confirm individual SNP associations (Supplementary Fig. 4). Nonetheless 37 of the 40 possible novel loci showed directionally consistent associations in both stages (Table 1; binomial sign test: P=9.7×10−9). A combined meta-analysis of the more stringent 2nd GC corrected Stage 1 results and replication cohorts gave confirmatory evidence for 30 novel menarche loci, leaving 10 unconfirmed possible menarche loci (Table 1; Fig. 1).
