酪氨酸蛋白激酶-2基因多态性与河南农村汉族人群2型糖尿病的关系张路宁,王重建,刘晓田,王炳源,
Association of JAK2 gene polymorphism with susceptibility of type 2 diabetes mellitus in Han population from Henan rural area

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TaqMan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？不肪车慕换プ饔谩＝峁？：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。
Aim: To investigate the association between Janus kinase？？2(JAK2) gene rs2230724 locus polymorphism and the susceptibility of type 2 diabetes mellitus(T2DM) in the rural Han population in Henan Province. Methods: A total of 235 T2DM individuals and 278 controls from Henan Han population were collected by random sampling method. The single nucleotide polymorphisms of JAK2 gene rs2230724 were detected using probe？？based TaqMan Real？？Time PCR assay. The association between JAK2 gene polymorphism and T2DM was evaluated by logistic regression, and the interaction between gene and environment was estimated by multifactor dimensionality reduction model and crossover analysis.Results: The genotype AG, GG and AA frequency of JAK2 gene rs2230724 between case group and control group had significant difference(P=0.008). Further analysis revealed that genotype(AG+GG) of JAK2 gene rs2230724 locus polymorphism decreased the risk of T2DM after adjusting age, gender,etc(adjusted OR=0.425,95%CI:0.245-0.736). The positive interaction between rs2230724 and exercise on the susceptibility of T2DM was observed(adjusted OR=0.583，95%CI:0.405-0.839). Conclusion: JAK2 gene rs2230724 locus polymorphism is associated with the susceptibility of T2DM, and the interaction of gene and physical activity is associated with the risk of T2DM