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目的:探讨酪氨酸蛋白激酶-2(JAK2)基因rs2230724位点多态性与河南农村汉族人群2型糖尿病易感性的关系。方法:采用随机抽样的方法选择河南省某农村地区汉族2型糖尿病患者235人(病例组)和对照278人(对照组),采用Taq Man荧光探针Real-Time PCR检测JAK2基因rs2230724位点多态性;采用logistic回归模型分析基因多态性与2型糖尿病的关联强度;采用MDR模型及叉生分析探讨基因-环境的交互作用。结果:病例组和对照组JAK2基因rs2230724位点AA、AG和GG基因型分布频率差异具有统计学意义(P=0.008)。调整年龄、性别等因素后,JAK2基因rs2230724位点突变基因型AG+GG与2型糖尿病易感性下降存在统计学关联(OR调整=0.425,95%CI:0.245~0.736)。进一步分析显示,JAK2基因rs2230724位点与体力活动对2型糖尿病易感性的影响存在相乘交互作用(OR调整=0.583,95%CI:0.405~0.839)。结论:JAK2基因位点rs2230724多态性与2型糖尿病易感性存在关联,且该位点基因多态性和体力活动对2型糖尿病的发生具有交互作用。
Aims: To investigate the relationship between rs2230724 polymorphism of tyrosine kinase-2 (JAK2) gene and the susceptibility to type 2 diabetes in rural Han population in Henan province. Methods: A total of 235 Han patients with T2DM and 278 control subjects (control group) were selected from a rural area of Henan Province by random sampling. TaqMan real-time PCR was used to detect the rs2230724 locus of JAK2 gene The logistic regression model was used to analyze the association between gene polymorphism and type 2 diabetes mellitus. The MDR model was used to investigate the gene-environment interaction. Results: There was significant difference in genotype frequencies of AA, AG and GG between rs2230724 and JAK2 in cases and controls (P = 0.008). After adjustment for age, sex and other factors, there was a statistically significant association between the genotype AG + GG of rs2230724 JAK2 gene and the susceptibility to type 2 diabetes (odds ratio = 0.425, 95% CI: 0.245-0.736). Further analysis showed that there was a multiplicative interaction between the rs2230724 locus of JAK2 gene and the susceptibility to type 2 diabetes mellitus (OR adjusted = 0.583, 95% CI: 0.405-0.839). Conclusion: The rs2230724 polymorphism of JAK2 gene is associated with the susceptibility to type 2 diabetes. The genetic polymorphism and physical activity of this locus interact with type 2 diabetes mellitus.