白细胞介素4基因启动子区多态性与新疆维吾尔族人群支气管哮喘患者发病间的关系

目的　探讨白细胞介素 4 (IL 4 )基因启动子区 - 5 89(C/T)位点基因的多态性和新疆维吾尔族人群支气管哮喘 (简称哮喘 )患者及其临床表型间的关系。方法　 93例哮喘患者 (A组 )根据病情轻、重分为轻度组 30例 (A1组 )、中度组 32例 (A2 组 )、重度组 31例 (A3 组 ) ;根据发作情况分为夜间哮喘组 (AⅠ 组 ) 4 1例 ,非夜间哮喘组 (AⅡ 组 ) 5 2例。并与 6 2名正常对照组 (B组 )进行对照。采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术检测各组IL 4基因启动子区 - 5 89(C/T)位点的多态性。应用UniCAP变应原检测系统测定血清嗜酸粒细胞阳离子蛋白 (ECP)、血清总免疫球蛋白E(T IgE)和特异性IgE抗体 (sIgE)水平。记录一秒钟用力呼气容积占预计值百分比 (FEV1占预计值 % )及最大峰流速 (PEF)。结果　A组患者IL 4基因启动子区 - 5 89(C/T)位点多态性分布频率CT杂合子为 4 2例 (4 5 1% ) ,CC纯合子为 2 9例 (31 2 % ) ,TT纯合子为 2 2例 (2 3 7% ) ;B组CT杂合子为 2 6例 (4 1 9% ) ,CC纯合子为 2 1例 (33 9% ) ,TT纯合子为 15例 (2 4 2 % ) ,A组与B组 3种基因型构成比比较差异无显著性 (P >0 0 5 ) ;AⅠ 组CC纯合子基因型的频率为 39 0 % ,AⅡ 组为2 5 0 % ,AⅠ 组与AⅡ 组比较差异有显著性 (P =0

A study on the relationship between interleukin-4 promoter polymorphism and asthma in a Xinjiang Uyger population

OBJECTIVE: To investigate the potential association of interleukin-4 (IL-4) polymorphism-589 (C/T) with specific clinical phenotypes of asthma in Xinjiang Uygur population. METHODS: Ninety-three Uyger asthmatics [asthmatic group (A), mild 30 (A(1)), moderate 32 (A(2)), severe 31 (A(3)); nocturnal asthma 41 (A(I)), non-nocturnal asthma 52 (A(II))] in whom linkage of asthma and atopy to chromosome 5q(31 - 33) was suggested and 62 normal healthy controls (B group) with the same ethnicity nearby Xinjiang Hetian region were investigated. The IL-4-589 (C/T) polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The serum eosinophil cationic protein (ECP) and total IgE and specific aeroallergens were detected using a Pharmacia UniCAP 100 type instrument, and pulmonary ventilatory function was measured by FEV(1)% and PEF. RESULTS: The IL-4 polymorphism-589 (C/T) frequency of the heterozygous CT was 42 (45.1%), homozygous CC 29 (31.2%), and homozygous TT 22 (23.7%) in A group. The frequency of the heterozygous CT was 26 (41.9%), homozygous CC 21 (33.9%), and homozygous TT 15 (24.2%) in B group. There were no significant differences in the distributions of the three genotypes between A group and B group (P > 0.05). The frequency of the homozygous CC was 39.0% in the A(I) group as compared to 25.0% in the A(II) group, the difference being significant (P = 0.026). The frequency of the heterozygous CT was 40% (12/30) in A(1) group, 41% (13/32) in A(2) group and 55% (17/31) in A(3) group. There were significant differences in the distributions of the three genotypes among A(1), A(2) and A(3) group (all P < 0.05). The total serum IgE levels were (75.2 +/- 43.2) kU/L and (52.3 +/- 22.4) kU/L in A group and B group respectively, and there was no significant difference in the levels of total serum IgE among the genotypes in both A and B groups (P > 0.05). The serum ECP levels were (7.9 +/- 5.4) microg/L and (4.8 +/- 1.9) microg/L in A group and B group respectively, the difference being significant between the two groups (P < 0.01). The positive rate of specific IgE antibody was 18.3% (17/93), and 0% (0/62) in A group and B group respectively, and there was significant difference between the two groups (P < 0.01). CONCLUSIONS: It is suggested that the IL-4 promoter-589 (C/T) polymorphism may be associated with nocturnal phenotypes of asthma, but not associated with pulmonary ventilatory function (P > 0.05) and serum total IgE level in this Xinjiang Uyger population.