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Chunk #17 — Meta-analysis identifies 12,111 height-associated SNPs

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A saturated map of common genetic variants associated with human height.
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We next sought to replicate the 12,111 METAFE signals using GWAS data from 49,160 participants in the Estonian Biobank (EBB). We first re-assessed the consistency of allele frequencies between our METAFE and the EBB set. We found a correlation of allele frequencies of around 0.98 between the two datasets and a mean FST across SNPs of around 0.005, similar to estimates that were obtained between populations from the same continent. Of the 12,111 GWS SNPs identified through our COJO analysis, 11,847 were available in the EBB dataset, 97% of which (11,529) have a MAF greater than 1% (Supplementary Table 10). Given the large difference in sample size between our discovery and replication samples, direct statistical replication of individual associations at GWS is not achievable for most SNPs identified (Extended Data Fig. 3a). Instead, we assessed the correlation of SNP effects between our discovery and replication GWASs as an overall metric of replicability3,17. Among the 11,529 out of 11,847 SNPs that had a MAF greater than 1% in the EBB, we found a correlation of marginal SNP effects of ρb =