湖南汉族1型糖尿病患者杀伤细胞免疫球蛋白样受体及其配体基因多态性

目的 探讨杀伤细胞免疫球蛋白样受体(KIR)基因和KIR配体人类白细胞抗原-C(HLA-C)基因的多态性与1型糖尿病(T1DM)的关系.方法 采用聚合酶链反应-序列特异性引物技术(PCR-SSP),对湖南汉族180例T1DM患者和199例正常对照者KIR基因、HLA-C基因进行检测和分析.结果 (1)与正常对照相比,T1DM组KIR 2DL1(98.9%比92.O%,OR=7.78,P=0.002)、3DL1(94.3%比86.4%,OR=2.67,P=0.009)和2DS4(83.9%比70.9%,OR=2.14,P=O.003)基因频率增高;(2) T1DM组和正常对照组HLA-C(HLA-C1、HLA-C2)基因频率差异无统计学意义,但T1DM组HLA C1+/C2+(3.9%比9.6%,OR=0.38,P=0.03)基因频率降低;(3)与正常对照组相比,T1DM组KIB/HLA-C基因组合中KIR 2DLI-/HLA-C2-(0.6%比6.0%,OR=0.087,P=0.003)和KIR 2DS1-/HLA-C2-(53.3%比64.8%,OR=0.62,P=0.023)基因频率降低.结论 KIR基因多态性和KIR/HLA-C基因组合与T1DM发病相关.

Killer cell immunoglobin-like receptor and its ligand gene polymorphisms in Hunan Han patients with type 1 diabetes

Objective To investigate the association of Killer cell immunoglobin-like receptor (KIR) gene and KIRs' ligand (HLA-C) gene polymorphisms with type 1 diabetes(T1DM).Methods Using polymerase chain reaction-sequence specific primer (PCR-SSP) to detect KIR and HLA-C genotype in 180 T1DM patients and 199 healthy controls from Hunan Han population.Results (1) The frequencies of KIR 2DL1 (98.9% vs 92.0%,OR=7.78,P=0.002),3DLl (94.3% vs 86.4%,OR=2.67.P=0.009)and 2DS4(83.9% vs 70.9%,OR=2.14,P=0.003) were significantly higher in T1DM patients than those in the controls.(2) There were no differences in the frequencies of HLA-C1 and HLA-C2 between the patients and the controls,but the frequency of HLAC1+/C2+(3.9% vs 9.6%,OR=0.38,P=0.03) was significantly lower in the T1DM patients.(3) The combination KIR2DL1-/HLA-C2-(0.6% vs 6.0%,OR=0.087,P=0.003) and KIR 2DS1-/HLA-C2-(53.3% vs 64.8%,OR=0.62,P=0.023) was significantly lower in the T1DM patients.Conclusion The KIR gene polymorphism and KIR/HLA-C gene compatibility are associated with T1DM.