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目的探讨肝细胞核因子1A(HNF1A)基因单核苷酸多态性(SNP)位点rs2464196,rs1169288和rs1169289与维吾尔族T2DM的相关性,以及SNP-环境危险因素交互用对T2DM易感性的影响。方法在乌鲁木齐市选取156例T2DM患者(T2DM组)和248名健康人(NC组),进行基因多态性检测和交互作用分析。结果 rs2464196位点AG基因型和吸烟的交互作用与T2DM的风险相关(OR=2.284,P=0.041)。rs2464196位点AG基因型和高LDL-C水平的交互作用会增加T2DM风险(OR=4.157,P=0.005),rs2464196位点GG基因型与高TG、低HDL-C和高LDL-C交互作用增加维吾尔族T2DM的易感性(OR=2.908、3.058、5.619)。rs1169288位点TG基因型与高TC、高TG、低HDL-C和高LDL-C交互作用增加维吾尔族T2DM的易感性(OR=2.793、4.076、5.043、4.649)。GG基因型与高TG、低HDL-C和高LDL-C存在交互增加疾病易感性(OR=2.461、3.042、3.638)。rs1169289位点CG基因型与吸烟和高LDL-C存在交互(OR=5.370、4.575)。GG基因型与高TC、高TG、低HDL-C和高LDL-C有交互增加T2DM易感性(OR=2.250、2.170、2.999、4.217)。结论 HNF1A基因多态性rs2464196,rs1169288和rs1169289与吸烟、血脂异常的交互作用可能影响维吾尔族T2DM的易感性。
Objective To investigate the association of SNP rs2464196, rs1169288 and rs1169289 with T2DM in Uigur patients and the effect of interaction of SNP-environment risk factors on the susceptibility to T2DM in HNF1A gene. Methods 156 cases of T2DM patients (T2DM group) and 248 healthy subjects (NC group) were selected in Urumqi for genetic polymorphism detection and interaction analysis. Results The interaction between AG genotype rs2464196 and smoking was associated with the risk of T2DM (OR = 2.284, P = 0.041). Interaction of rs2464196 AG genotype and high LDL-C increased the risk of T2DM (OR = 4.157, P = 0.005). The genotype of rs2464196 GG interacted with high TG, low HDL-C and high LDL-C Increased the Uygur T2DM susceptibility (OR = 2.908,3.058,5.619). TG genotype of rs1169288 interacted with high TC, high TG, low HDL-C and high LDL-C to increase the susceptibility of Uighur T2DM (OR = 2.793,4.076,5.043,4.649). The GG genotype interacted with the presence of high TG, low HDL-C and high LDL-C to increase disease predisposition (OR = 2.461, 3.042, 3.638). The rs1169289 CG genotype interacted with smoking and high LDL-C (OR = 5.370, 4.575). GG genotypes increased T2DM susceptibility (OR = 2.250,2.170,2.999,4.217) by interacting with high TC, high TG, low HDL-C and high LDL-C. Conclusion The interaction of rs2464196, rs1169288 and rs1169289 polymorphisms of HNF1A with smoking and dyslipidemia may affect the susceptibility of Uighur T2DM.