目的探讨胃癌中人端粒保护蛋白1基因(hPOT1)IVS13-98G/T位点单核苷酸多态性与幽门螺杆菌(H.pylori)感染的关系。方法采用聚合酶链反应和限制性片段长度多态性技术(PCR—RFLP)对150例外科手术切除的胃癌患者和156例正常对照者行基因型分析,采用PCR和Warthin-Starry银染色法检测幽门螺杆菌。结果胃癌组hPOT1 IVS13—98T/G位点GG、GT、TT基因型的频率分别22.00%、41.67%、36.67%,G、T等位基因频率分别为42.67%、57.33%;对照组GG、GT、TT基因型的频率分别为24.36%、51.92%、23.72%,G、T等位基因频率分别为49.68%和50.32%。两组G、T等位基因型频率比较无统计学意义(Х^2=3.0257,P=0.0820)。以T/T基因型作为参照基因型,G/T和G/G两种基因型OR值分别为0.432(95%CI:0.242—0.772,P=0.005)、0.540(95%CI:0.274—1.064,P=0.075)。胃癌中3种基因型H.pylori的检出率无统计学意义(P〉0.05)。结论hPOT1 IVS13—98G/T单核苷酸多态性可能与甘肃胃癌高发区的胃癌患者有关,可能为胃癌的保护因素。胃癌hPOT1 IVS13—98G/T单核苷酸多态性与H.pylori感染无关。
Objective To explore the relationship between the single nucleotide polymorphisms (SNPs) of IVS13-98G/T of human protection of telomeres 1 (hPOT1) genes and H. pylori infection. Methods A total of 150 cases of gastric carcinoma and 156 cancer-free controls were genotyped by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) method. H. pylori was identified with PCR and Warthin-Starry methods. Results The frequencies of GG, GT, and TT genotypes of hPOT1 IVS13-98 G/T were 22.00%, 41.67% and 36.67% in patients and 24.36%, 51.92%, and 23.72% in controls, respectively. The OR for any GT and GG genotype was 0.432(95% CI= 0.242-0.772, P=0.005) and 0.540 (95% CI= 0.274-1.064, P=0. 075) when compared with TT genotype, respectively. There were no differences in genotype distribution and allele frequency of IVS13-98 G/T polymorphism (Х^2 =3.0257, P= 0.0820). hPOT1IVS13-98 G/T polymorphism was not correlated with H. pylori infection in gastric cancer. Conclusion Our results indicated that IVS13-98 G/T SNP of hPOT1 gene might be associated with reduced risk for gastric carcinoma, but not with H. pylori infection.