| Objective: To investigate the single nucleotide polymorphisms(SNPs)of T2and V4polymorphism of ADAM33gene and their linkage disequilibrium, and therefore to detect their haplotype relationship with asthma in Xinjiang Uygur. Methods:PCR-RFLP was used to determine polymorphism of T2ã€V4locus allele of ADAM33gene in125with bronchial asthma (case group) and125healthy individuals (control group) by case-control. Results:(1)There were not significant difference between the age and gender of the two groups.(2)The distribution of the ADAM33gene T2ã€V4locus genotype frequencies were in line with H-W equilibrium test.(3)There were statistical significance difference in the T2ã€V4locus genotype frenquency distribution and allele frenquency distribution (P<0.05)between asthma group and the control group in Uygur group.(4)Compared to the allele G and C, the allele A and C can increase the risk of asthma(T2:OR=2.139, V4: OR=1.912).(5)According to the severity of the asthma patients were divided into mild, moderate and severe three groups,by the tests and analysis, the results showed that T2ã€V4polymorphism and asthma severity was not significant(T2:P=0.092; V4:P=0.146). Significant difference of allele frequency was found in GG and CC genotype of V4in ADAM33gene among three degrees of asthma (P=0.013).(6)Pairwise LD was carried out for two SNPs of ADAM33gene. The pairwise LD values of the polymorphisms were in weak disequilibrium. Four haplotypes was reconsreucted by the two SNPs. Two of the Uighur groups in haplotype frequencies of asthma and control groups was statistically significant difference in the distribution. GG(OR=1.596), haplotypes frequency in patien group were Significantly higher than control group; CG(OR=0.442), haplotypes frequency in control group were Significantly higher than patien group. Conclusion:(1)T2ã€V4 polymophic sites of ADAM33gene are associated with susceptibility of asthma in Uygur ethnic. The G allele may be protective, while the A allele may be susceptibility for asthma in T2polymophic site; The G allele may be protective, while the C allele may be susceptibility for asthma in V4polymophic site.(2)The results showed ADAM33gene T2ã€V4sites no significant correlation with severity of asthma in Uyghur population, and V4sites may be associated with pulmonary function.(3)Multilocus haplotype analysis showed that:ADAM33gene haplotype structure located in the Uighur case group and control group difference was statistically significant. |