Study on the family-based association Tim-1 promoter polymorphism with child allergic asthma / 中国免疫学杂志

ABSTRACT

Objective: To investigate the association between three single nucleotide polymorphisms-2562G＞A,-416C＞G and-232G＞A in Tim-3(T cell immunoglobulin domain and mucin domain protein 3)gene promoter region and child allergic asthma in Chinese Han population by using family-based association study.Methods: Genotypes of 3 SNPs(-2562G＞A,-416C＞G and-232G＞A)in 118 allergic asthma nuclear pedigrees were analyzed by restriction fragment length polymorphism.The genotype data were analyzed by using the family-based transmission disequilibrium test(TDT).Haplotypes and their frequencies were established and analyzed by TRANSMIT software.Results: ①No transmission disequilibrium was found at the-2562G＞A and-232G＞A sites from heterozygous parents onto patients in 118 trios analyzed by TDT(P＞0.05);However,at the-416 C＞G locus,the observed values of G allele from heterozygous parents to offspring were significantly higher than the expected values(P＜0.05)②The haplotype TDT analysis by TRANSMIT showed the observed and the expected value in GCA and GGA haplotype from parents to the affected offsprings had significant difference respectively(P＜0.05).The Global X~2 test results also showed that Tim-1 haplotype were associated with child allergic asthma(X~2 = 17.26, P＜0.01).Conclusion: Tim-1 gene promoter-416C＞G locus are associated with allergic asthma susceptibility in Hubei Chinese Han population and the haplotypes constructed by-416C＞G are also associated with asthma.Tim-1 genetic polymorphism may play an important role in the pathogenesis of asthma.