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目的探讨岩藻糖基转移酶2(FUT2)基因多态性与新疆地区哈萨克族、汉族胃腺癌发病的关系。方法选取胃腺癌患者299例(病例组)、体检健康者333例(对照组),病例组中汉族167例、哈萨克族132例,对照组中汉族182例、哈萨克族151例。取清晨全血,采用PCR和DNA测序相结合的方法检测PUT2基因G739A、A385T、C375T位点的单核苷酸多态性。收集患者临床资料,采用多因素Logistic回归分析各因素与胃腺癌的关系。结果病例组和对照组汉族人群G739A位点AA基因分别为57、27例(P<0.01),哈萨克族人群G739A位点AA基因型分别为32、18例(P<0.01),携带G739A位点A等位基因的汉族、哈萨克族个体分别是相对应民族非携带者患胃腺癌风险的1.655倍(95%CI为1.227~2.233,P=0.001)和1.430倍(95%CI为1.026~1.992,P=0.035);A385T位点TT基因型在汉族及哈萨克族分别为7、12例,显著高于相同民族对照组的1、3例(P均<0.05);C357T位点T等位基因在汉族及哈萨克族病例组和对照组中的差异均无统计学意义(P均>0.05)。病例组中汉族和哈萨克族A385T位点T等位基因分别为39、45例(P<0.01),对照组中两民族G739A、A385T、C357T位点基因型及等位基因比较差异均无统计学意义(P均>0.05)。多因素回归分析显示,携带G739A位点A等位基因且现在还在吸烟或饮酒者或幽门螺杆菌(Hp)阳性者,患胃腺癌风险增加2.035、2.360、3.815倍。结论新疆地区汉族、哈萨克族胃腺癌的发生与FUT2基因G739A、A385T位点多态性有关,且胃腺癌患者中哈萨克族A385T位点突变频率高于汉族,同时吸烟、饮酒、Hp感染亦可增加携带G739A位点A等位基因者胃腺癌的患病风险。
Objective To investigate the relationship between FUT2 gene polymorphism and the incidence of gastric adenocarcinoma in Kazak and Han nationality in Xinjiang region. Methods A total of 299 patients with gastric adenocarcinoma (case group), 333 healthy controls (control group), 167 cases of Han and 132 cases of Kazakh, 182 cases of Han and 151 cases of Kazakh were included in the control group. The early morning whole blood was taken and the single nucleotide polymorphisms of PUT2 gene G739A, A385T and C375T were detected by PCR and DNA sequencing. The clinical data were collected and multivariate Logistic regression analysis was used to analyze the relationship between various factors and gastric adenocarcinoma. Results AA genotypes of G739A locus were 57 and 27 (P <0.01) respectively in case group and control group. There were 32 and 18 AA genotypes in G739A locus in Kazakh population (P <0.01) (95% CI, 1.227-2.233, P = 0.001) and 1.430-fold (95% CI, 1.026-1.992, respectively) of Han nationality and Kazakh nationality of Han nationality and Kazak nationality of Han nationality, P = 0.035). TT genotype of A385T locus was 7 and 12 in Han nationality and Kazak nationality respectively, which were significantly higher than those in the same ethnic group (P <0.05). The T allele of C357T locus was There was no significant difference between Han and Kazak cases and controls (P> 0.05). There were 39 and 45 T alleles in Han and Kazak A385T loci in case group (P <0.01). There was no significant difference in genotypes and alleles between G739A, A385T and C357T loci in two ethnic groups in the control group Significance (P> 0.05). Multivariate regression analysis showed that the risk of developing gastric adenocarcinoma was 2.035, 2.360, and 3.815 times higher than that of those who were smoking or drinking alcohol or were positive for Helicobacter pylori (Hp) who carried the A allele of G739A. Conclusions The occurrence of gastric adenocarcinoma in Han and Kazak peoples in Xinjiang is related to the polymorphisms of FUT2 gene G739A and A385T loci. The frequency of A385T mutation in gastric adenocarcinoma is higher than that in Han nationality, smoking, alcohol consumption and Hp infection are also increased Risk of gastric adenocarcinoma with G allele A at G739A locus.