关键词: 单核苷酸多态, 连锁不平衡 , 支气管哮喘, 相关性, T细胞免疫球蛋白域与粘蛋白域蛋白3

Abstract: To analyze two single nucleotide polymorphisms (SNPs) T882C and T574G in TIM3 (Tcell immunoglobulin domain and mucin domain protein3) gene promoter region and evaluate the association between the two SNPs and asthma susceptibility in a Chinese Han population from Shandong Province. Methods: The genotype and allele frequencies of SNPs T882C and T574G in 449 asthma patients and 386 healthy controls were detected with polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP) method and then analyzed with Chisquare test. Haplotypes of the TIM3 gene promoter region was constructed with SHEsis software. Results: SNPs T882C Frequencies of TT/TC/CC genotypes at T882C site and frequencies of TT/TG/GG genotypes at T574G site were 0/0.042?3/0.957?7 in the asthma patients and 0/0.018?1/0.981?9 in the healthy controls. The genotype and allele frequencies of the two SNPs in asthma patients were significantly different from those in the healthy controls. Significant difference in haplotype frequencies was also found between the asthma patients and the healthy controls. Conclusion: SNPs T882C and T574G in TIM3 gene promoter region might be associated with asthma susceptibility in a Chinese Han population from Shandong Province.

Key words: Tcell immunoglobulin domain and mucin domain protein3, Asthma, Association, Single nucleotide polymorphism, Linkage disequlibrium