支气管哮喘易感区域5q31-33内Tim-3基因单体型分析  

Haplotype analysis of Tim-3 gene polymorphisms within asthma susceptible region 5q31-33

作　　者：武其文[1] 胡丽华[1] 蔡鹏程[1] 崔天盆[1] 陈凤花[1] 

机构地区：[1]华中科技大学附属协和医院检验科,湖北武汉430022

出　　处：《中国病理生理杂志》2009年第4期693-698,共6页Chinese Journal of Pathophysiology

基　　金：国家自然科学基金资助项目(No.30672008)

摘　　要：目的:探讨染色体上支气管哮喘易感区域5q31-33内Tim-3基因多态性与支气管哮喘的关系。方法:应用限制性片段长度多态性技术方法,分析了118个儿童变应性哮喘核心家系Tim-3基因4个SNPs(rs10053538、rs10515746、rs13170556和rs9313441)的基因型;采用基于家系传递不平衡检验(TDT),分析基因分型数据;应用TRANSMIT软件构建单体型并进行单体型关联分析。结果:①基于家系的TDT分析显示,Tim-3基因的4个SNPs由杂合子父母传递给患病子代的等位基因频率不比预期值高,与哮喘无关(P>0.05)。②Transmit多个位点单体型分析结果显示由Tim-3基因rs10053538、rs13170556、rs9313441构建的单体型与支气管哮喘有关联(Global 2=10.83,P<0.05)。父母传递给患病子女GGG单体型的观察值小于期望值,差异显著(2=8.24,P<0.01)。结论:中国汉族人群中,位于染色体5q31-33区域的Tim-3基因本身或其附近的基因可能与儿童变应性哮喘的易感性相关。AIM： To investigate the relationship between Tim -3 gene polymorphisms within chromosome susceptible region 5q31 -33 and asthma. METHODS： The genotypes of4 SNPs （rs10053538, rs10515746, rs13170556 and rs9313441 ） in 118 allergic asthma nuclear pedigrees were analyzed by restriction fragment length polymorphism. Family - based association analysis method for transmission disequilibrium test （TDT） was employed for the data processing. Haplotypes and their frequencies were established and analyzed by TRANSMIT software. RESULTS： （1） No transmission disequilibrium was found in 4 SNPs of Tim -3 from heterozygous parents onto patients in our 118 trios analyzed by TDT （P 〉 0. 05）. The 4 SNPs were not associated with asthma.（2） The family - based haplotype analysis showed that the haplotypes of Tim - 3 constructed by rs10053538, rs13170556, rs9313441 were associated with asthma （ χ^2 = 10. 83, P 〈 0. 05 ）. The observed numbers of haplotype GGG from parents to the affected offsprings were less than the expected numbers, which showed a significant biased transmission （χ^2 = 8.24,P 〈 0. 01 ）. CONCLUSION： The Tim -3 gene in chromosome 5q31 - 33 itself or a locus nearby may confer susceptibility to asthma in this Chinese Han population.

关 键 词：基因 TIM-3 儿童变应性哮喘 单核苷酸多态性 染色体5q31-33 

分 类 号：R392[医药卫生—免疫学]