MUC6基因多态性与非贲门胃癌的发病风险关联

Relationship between single nucleotide polymorphism in the MUC6 gene and non-cardia gastric cancer risk

目的探讨MUC6基因单核苷酸多态性(SNP) rs10794282、rs10794279、rs11246386、rs10751638、rs11826309、rs10794359与非贲门胃癌的相关性。方法采用荧光探针(TaqM an)法对288例非贲门胃癌患者(病例组)和281例正常体检者(对照组)所检测的6个SNPs进行基因分型;Haploview软件被用来构建单体型,分析MUC6多态位点间的连锁不平衡状态;评估各等位基因、基因型及单体型与非贲门胃癌的关系时,采用非条件性Logistic回归计算比值比(OR值)及其95%可信区间(CI)。结果两组SNP rs10794282、rs10794279、rs10751638、rs11826309、rs10794359的等位基因和基因型分布差异无统计学意义(P>0. 05)。但携带SNP rs11246386 T等位基因者罹患胃癌的风险降低(OR=0. 842,95%CI:0. 736～0. 962);CT和TT基因型对非贲门胃癌有保护作用(CT vs CC:OR=0. 857,95%CI:0. 604～1. 215; TT vs CC:OR=0. 297,95%CI:0. 135～0. 655)。连锁不平衡分析发现:rs10794359-rs11826309(模块1)之间存在强连锁不平衡,构成单体型区域;但分析结果显示:各单体型在两组中的分布差异无统计学意义(P>0. 05)。结论 MUC6 SNP rs11246386位点与非贲门胃癌易感性相关,是一种保护因素。

Objective To investigate the relationship between single nucleotide polymorphism（SNP） rs10794282,rs10794279,rs11246386,rs10751638,rs11826309 and rs10794359 in the MUC6 gene and non-cardia gastric cancer risk. Methods Six tested SNPs were genotyped by TaqM an method among 288 cases with non-cardia gastric cancer and 281 normal controls. Haploview software was used to construct haplotypes and analyze linkage disequilibrium between MUC6 polymorphic loci. Odds ratios（ ORs） and 95% confidence intervals（95%CI） were measured by Logistic regression analysis to evaluate the correlations of the alleles,genotypes,and haplotypes to the susceptibility to non-cardia gastric cancer.Results The allele and genotype frequencies of SNPs rs10794282,rs10794279,rs10751638,rs11826309 and rs10794359 were not significantly different between non-cardia gastric cancer patients and normal controls（ P〉0.05）. The carries of SNP rs11246386 T allele had lower risk of non-cardia gastric cancer（ OR = 0.842,95%CI：0.736 ～ 0.962）. The CT and TT genotypes had a protective effect on non-cardia gastric cancer（ CT vs CC： OR = 0.857,95%CI： 0.604 ～ 1.215; TT vs CC：OR = 0.297,95%CI：0.135 ～ 0.655）.The analysis of linkage disequilibrium showed that there was a strong linkage disequilibrium between rs10794359-rs11826309（ Block 1）,forming a haplotype region; however,the analysis showed that there was no significant difference in the distribution of haplotypes among cases and controls.Conclusions MUC6 SNP rs11246386 is associated with susceptibility to non-cardia gastric cancer and is a protective factor.