Objective:To explore gene polymorphisms in NRAMP1gene, VDR gene, HLA-DRB1gene and HLA-DQB1gene and its association with susceptibility to tuberculosis (TB) in the Chinese Kazakh population.Methods:A case-control study was performed on the Chinese Kazak population. Genetic polymorphisms of NRAMP1gene (3’UTR) and VDR gene (TaqI and Fokl) were analysed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing analysis in TB patients and healthy controls. Genetic polymorphisms of HLA-DRB1gene and HLA-DQB1gene in the two groups were detected with polymerase chain reaction-sequence specific primers (PCR-SSP) technique and sequencing analysis. Variants at polymorphisms in different genes were compared between TB cases and controls with Chi-square test; SPSS13.0was used to analyze the data.Results:There was statistically significant difference in the3’UTR polymorphism between the TB patients and healthy controls in the Chinese Kazak population (P=0.002, OR=1.859,95%CI=1.182-2.926). the TGTGdel allele frequency of the3’UTR SNP in the patient group was higher than in the control group, indicating significant difference between the two groups (P=0.000). Significant difference was observed in the FokI polymorphism between the TB patients and healthy controls (P=0.001, OR=1.530,95%CI=1.007-2.325). It doesn’t disclosed any significant association between the disease and TaqI (P>0.05). The f allele frequency of the Fokl in the patient group was higher than in the control group, indicating significant difference between the two groups (P=0.000). The t allele frequency of the TaqI in the patient group was lower than in the control group, no significant differences in the t allele frequencies were observed between the TB patients and the controls (P=0.026). Allele HLA-DRB1*04and HLA-DQB1*0201occurred more frequently in patients than in controls (P=0.011and0.002, OR=1.889and1.802,95%CI=1.153-3.095and1.230-2.639, respectively).Conclusions:The3’UTR polymorphism of NRAMP1gene might be associated with TB in the Chinese Kazakh population. The FokI polymorphism of VDR gene is significantly associated with TB and may be risk factors for the development of TB in the Chinese Kazakh population. The VDR gene (TaqI) polymorphism is not associated with TB. It does not show linkage disequilibrium in the two polymorphisms of VDR gene. Alleles HLA-DRB1*04and HLA-DQB1*0201may be risk factors for the tuberculosis in the Chinese Kazakh population. |