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We read the recent article by Mocellin et al 1 with great interest. Their comprehensive meta-analysis nominated 11 germline variants at nine loci with high level of cumulative evidence for genetic susceptibility to gastric cancer (GC). Evidence for five of the nine loci (PKLR at 1q22, CASP8 at 2q33.1, MUC1 at 1q22, TGFBR2 at 3p241 and GSTP1 at 11q13.2) came from hypothesis-driven studies based on biological relevance, while the remaining loci were identified through genome-wide association studies (GWAS). However, all loci await functional annotation in the relevant normal tissue to further our understanding of the mechanisms underlying the associations. To explore their functional relevance, we annotated each variant (and its high LD SNPs) using publicly available bioinformatics data in conjunction with our own GWAS and mRNA expression data (figure 1).
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