HLA-E基因多态性和川崎病并冠状动脉损害易感性的相关性研究

目的探讨HLA-E基因多态性与中国汉族儿童川崎病（KD）及KD并冠状动脉损害（CAL）之间的关系。方法应用聚合酶链反应——限制性内切酶片段长度多态性分析,对150例中国汉族健康儿童（对照组）及85例KD患儿组的HLA-E基因多态性进行检测。并同时采用酶联免疫吸附试验（ELISA）检测血浆可溶性HLA-E浓度（sHLA-E）。结果1.KD患儿组血浆sHLA-E浓度明显高于对照组（P〈0.05）。2.KD患儿组中基因型为AA和GA的血浆HLA-E水平较对照组显著增高（P〈0.05）,而基因型为GG的血浆HLA-E水平和对照组比较,差异无显著性（P=0.135）。3.KD患儿组G型等位基因频率较对照组显著增高（P〈0.001,OR=2.133,95%C I=1.452-3.132）。KD患儿组未并发CAL（NCAL）者中G型等位基因频率和对照组比较,有统计学差异（P〈0.001,OR=2.599,95%C I=1.719-3.929）,且GG型等位基因频率较对照组显著增高（P〈0.05,OR=2.973,95%C I=1.432-6.173）,而GA型等位基因频率和对照组比较,无统计学差异（P=0.053）。结论川崎病的发病受遗传背景的影响,与HLA-E基因多态性密切相关。

Correlation between HLA-E Gene Polymorphism and Susceptibility of Kawasaki Disease

Objective To evaluate correlation between HLA- E gene polymorphism and Kawasaki disease（KD） with and without coronary artery lesions（CAL）. Methods There were 85 patients with KD and 150 healthy subjects in the study. The genotype of HLA - E gene was detected by polymerase chain reaction -restriction fragment length polymorphism（ PCR -RFLP）. Enzyme - linked immunosorbent assay （ELISA） for detection of soluble HLA - E. The gene type distribution was estimated by x^2 test,the plasma levels of soluble HLA - E was presented as x^-±s. Results The plasma levels of soluble HLA - E in KD group was higher than that in control group （P 〈 0. 05）, KD patients with the GA or AA genotype had significantly higher plasma levels of soluble HLA - E than the controls in KD patients with the GA genotype （P 〈0. 0.5） and KD patients with the AA genotype （P 〈 0. 05）. No significant difference between KD patients with the GG genotype and the control subjects was observed （P = 0. 135）. The frequency of the G allele of the HLA - E polymorphism was significantly higher in KD patients than in control subjects （P 〈0. 00 ,OR =2. 133,95% CI = l. 452 -3. 132）. The frequency of the G allele of the HLA - E polymorphism was significantly higher in KD patients without CAL than in control subjects （P 〈0. 01 ,OR = 2.599,95%CI =1. 719 - 3. 929）. The frequencies of the GG genotypes were significantly higher in KD patients without CAL than in controls （OR =2. 973, 95%CI =1. 432 -6. 173 ] ）for the GG genotype. GA genotype frequencies were not statistically different in KD patients without CAL than in controls. Conclusions Our results suggest that the HLA - E gene polymorphism may play a role in the pathogenesis of KD.