Mll3 Genetic Variants Affect Risk of Gastric Cancer in the Chinese Han Population

Abstract

It is reported that the expression level of MLL3 in gastric cancer tissue highly correlates with tumorprogression. However, whether MLL3 genetic variants are associated with the risk of gastric cancer remainsunclear. In this study, we conducted a genotyping analysis for MLL3 in 314 cases of gastric cancer and 322controls from the Chinese Han population. 4 SNPs (rs6943984, rs4725443, rs3800836, rs6464211) were selectedfor the present analysis. We found 2 SNPs (rs6943984, rs4725443) of MLL3 gene were significantly associatedwith the risk of gastric cancer : the rs6943984 with the minor allele A and rs4725443 with the minor allele Crevealed strong associations with increased gastric cancer risk [P < 0.001, OR = 1.97, 95% CI = 1.48~2.64 andP <0.001, OR = 2.23, 95% CI = 1.54~3.24]. Haplotype analysis of the four SNPs showed that haplotype A-T-A-C,G-T-G-C, and G-C-A-C increased the risk of gastric cancer (P <0.001, P=0.18, and P<0.001, respectively), whilehaplotype G-T–A-C significantly reduced the risk of gastric cancer (P <0.001). We concluded that MLL3 variantsare significantly associated with gastric cancer risk. Our results for the first time provided new insight intosusceptibility factors of MLL3 gene variants in carcinogenesis of gastric cancer of the Chinese Han population.