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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).
Contributors PLH designed this study. NH and HSu provided technical and data support. HSung, PLH and HHY analysed and interpreted the data. HSung and PLH wrote the manuscript. HSung, PRT and PLH revised the manuscript critically for important intellectual content.
Funding This research was funded by Intramural Research Program of the National Institutes of Health, the National Cancer Institute, the Division of Cancer Epidemiology and Genetics, and the Center for Cancer Research.
Competing interests None declared.
Patient consent Obtained.
Ethics approval National Cancer Institute Special Studies IRB.
Provenance and peer review Not commissioned; internally peer reviewed.