酪氨酸蛋白激酶-2 rs2230724基因多态性与结直肠癌风险相关性研究

Association between rs2230724 gene polymorphism of tyrosine kinase 2 and risk of colorectal cancer

目的:探讨酪氨酸蛋白激酶-2(JAK2)基因rs2230724多态性与结直肠癌风险的相关性。方法:采用多聚酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)方法分析110例结直肠癌患者(病例组)和150例非肿瘤患者(对照组)JAK2 rs2230724基因的多态性,并对该多态性与结直肠癌风险的相关性进行评估。采用SPSS 26.0软件进行分析。采用拟合优度χ^(2)检验进行Hardy-Weinberg平衡的检测。两组间的一般资料、基因型和等位基因的频率分布的比较采用Student’s t检验和Pearsonχ^(2)检验。采用Logistic线性回归(需要进行校正)分析JAK2 rs2230724基因多态性和结直肠癌风险的相关性,相对危险度用优势比(OR)和95%可信区间(CI)估计。以P<0.05为有统计学意义。结果:病例组A等位基因频率明显高于对照组,A等位基因突变增加50%结直肠癌发病风险(P=0.025,OR=1.50,95%CI=1.05-2.14)。与野生基因型(GG)相比,变异基因型(AG+AA)增加79%结直肠癌发病风险(P=0.043,校正OR=1.79,95%CI=1.02-3.15)。其中,突变纯合子(AA)基因型的携带者结直肠癌的风险增加129%(P=0.034,OR=2.29,95%CI=1.06-4.93),差异有统计学意义。但是,在添加了校正因素后,差异无统计学意义(P=0.052,校正OR=2.29,95%CI=0.99-5.26)。而且,在分层分析中,在高年龄组(年龄>56)、非吸烟受试者和城市居住者中,该多态性增加结直肠癌风险(P<0.05)。结论:在江苏汉族人群中JAK2基因rs2230724多态性与增加结直肠癌风险相关。

Objective To investigate the association between JAK2 gene rs2230724 polymorphism and the risk of colorectal cancer.Method The polymorphisms of JAK2 rs2230724 gene in 110 colorectal cancer patients(case group)and 150 non-tumor patients(control group)were analyzed by polymerase chain react-restrietion enzyme fragment length polymorphism(PCR-RFLP),and the association between the polymorphisms and the risk of colorectal cancer was evaluated.SPSS 26.0 software was used for analysis.Coodness-of-fit chi-square test was used to detect Hardy-Weinberg equilibrium.Student's t test and Pearson χ^(2) test were used to compare the general data,genotype and allele frequency distribution between the two groups.The association between JAK2 rs2230724 polymorphism and colorectal cancer nsk was analyzed by logistic linear regression(correction required).and the relative risk was estimated by odds ratio(OR)and 95%confidence interval(CI).P<0.05 was considered statistically significant.Results The frequency of A allele in the case group was significantly higher than that in the control group.and A allele mutation increased the risk of colorectal cancer by 50%(P=0.025,OR=1.50,95%CI=1.05-2.14).Compared with the wild genotype(CO,the variant genotype(AC+AA)increased the risk of colorectal cancer by 79%(P=O.043.adjusted OR=1.79,95%CI=1.02-3.15).Among them,mutation homozygous(AA)genotype carriers had 129% increased risk of colorectal cancer(P=0.034.OR-2.29.95%CI=1.064.93).and the difference was statistically significant.However,the difference was not statistically significant after adding adjustment factors(P=0.052,adjusted OR=2.29.95%CI=0.99-5.26).Moreover,in stratified analyses,the polymorphism was associated with an increased nsk of CRC in older age groups<age>56).non-smoking subjects,and urban residents(P<0.05).Conclusion JAK2 rs2230724 polymorphism is associated with increased risk of colorectal cancer in Jiangsu Han population.