白介素12基因多态性和支气管哮喘的相关性研究

目的 探讨白介素12(IL-12)-1188(A＞C)的基因多态性与中国北方成人支气管哮喘(简称哮喘)的相关性,并探讨其对血清总IgE水平的关系及对蛋白表达的影响.方法 采用特异序列引物聚合酶链反应方法检测65例哮喘患者和52名健康成人IL-12-1188位点基因型,比较两组IL-12-1188位点的基因型和等位基因分布频率.同时采用酶联免疫吸附试验检测不同基因型的研究对象的血清总IgE水平及蛋白表达的水平.结果 哮喘组和健康组3种基因型AA,AC,CC的基因分布频率分别为:29.2%,58.5%,12.3%; 53.9%,46.1%,0%.两组基因型分布频率的差异有统计学意义(P＜0.01),哮喘组和健康组A和C的等位基因分布频率分别是58.45%,41.55%;76.95%23.05%.两组等位基因的分布频率的差异有统计学意义(P＜0.05).另外,血清总IgE水平哮喘组(472.15±23.11)μg/L高于正常对照组(65.66±12.42) μg/L,差异有统计学意义(P＜0.01);而蛋白表达的水平哮喘组(2.15±0.89)μg/L低于正常对照组(3.77±1.01)μg/L,差异有统计学意义(P＜0.05).结论 研究表明IL-12-1188(A/C)的基因多态性与中国北方成人哮喘的发生有关,并且该位点的基因多态性可引起血清总IgE水平及蛋白表达水平的变化.

Study on the assciation between the interleukin-12 polymorphism

Objective To evaluate the possible association between the IL-12-1188 polymorphism and asthmatic adult in the north of China,and to investigate the relationship between polymorphism and serum IgE level in them,and an effect on its protein expression. Methods The study was conducted in two different groups:asthmatic patients ( n =65)and healthy adults( n = 52). The IL-12-1188 polymorphism was genotyped by polymerase chain reaction-restriction amplification with sequence-specific primers. And Serum total IgE level and protein of subjects with different genotypes was determined by enzyme linked immunosorbent assay. Results Genotypes ftequencies of AA, AC, and CC were 29.2 %, 58.5 %, 12.3 % and allels frequencies of A and C were 58.46%, 41.54% in the asthmatic group. However, genotypes frequencies of AA, AC, and CC were 53.8% ,46.2%, 0% and allels frequencies of A,C were 76.92%,23.08% in the healthy group. There are significant difference in the distribution of genotypes and alleles frequencies between the two groups. And serum total IgE level in asthmatic group(472. 15 ± 23.11 ) μg/L was higher than control group(65.66± 12.42) μg/L, ( P ＜0.01 ＝. But the different genotypes of IL-12 1188 (A/ C) had an effecton on its protein expression level. The protein level from the patients with (2. 15±0.89) μg/L,was lower than patients with (3.77± 1.01 ) μg/L ( P ＜0. 05). Conclusions There is polymorphism of IL-12-1188 sites, which may be correlated to the etiology of adult asthma in north of China, but may related to the increase of total serum IgE level and the decreass of protein expression level.