[Study on the association of INT4 and 3'UTR polymorphism of natural-resistance-associated macrophage protein 1 gene with susceptibility to pulmonary tuberculosis].

OBJECTIVE: To investigate the association between natural-resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms and susceptibility to pulmonary tuberculosis (TB) in Han nationality from Northern part of China. METHODS: A 1:1 matched case-control study was adopted. Polymerase chain reaction and restriction fragment length polymorphism technique were used to type the two NRAMP1 polymorphisms: INT4 and 3'UTR. Information on environmental-related risk factors and pathological changes of tuberculosis was collected using a pre-tested standard questionnaire. Univariate and multivariate conditional logistic analyses were conducted using SPSS for window software. RESULTS: A sample consisting 124 pairs of cases and controls was studied. Univariate analysis demonstrated that the 3'UTR TGTG+/del genotype occurred more frequently in the cases than in the controls, with crude OR (95% CI) being 2.923 (1.557 - 5.487). No significant association was observed between TB and INT4 polymorphism. In multivariate analysis, associations of TB and 3'UTR TGTG+/del genotype remained, after adjusting for scar of bacillus Calmette-Guérin vaccine, marriage status, body mass index and exposure history. Adjusted OR (95% CI) was 2.955 (1.369 - 6.381). Again, no significant association between INT4 polymorphism and TB was found. Among different INT4 genotypes, the pathological characters of pulmonary tuberculosis were also found different (chi(2) = 9.634, P < 0.05). CONCLUSION: Polymorphism of 3'UTR locus in NRAMP1 gene might affect their susceptibility to TB in Han nationality living in the northern part of China, and polymorphism of INT4 might affect the pathological characters of tuberculosis.

[Study on mannose-binding protein gene polymorphisms and susceptibility to pulmonary tuberculosis].

OBJECTIVE: To explore the association between the genetic polymorphisms of mannose-binding protein (MBP) alleles and susceptibility to pulmonary tuberculosis. METHODS: 125 pulmonary tuberculosis cases and 198 healthy controls were collected. A case-control study was conducted. Three structural gene mutations in exon 1 of MBP gene (codon 52, codon 54 and codon 57) were studied. Polymerase chain reaction with sequence-specific primers (PCR-SSP) was carried out in the polymorphism in MBP alleles. Information on related risk factors of tuberculosis was collected, using a pre-tested questionnaire. Univariate and multivariate logistic analyses were conducted with SPSS software package. RESULTS: The frequencies of mutant heterozygote or homozygote of MBP-52, 54, 57 were 8.0%, 7.2% and 0.4% for cases and 5.3%, 4.3%, 0.5% for controls, respectively. The distribution of mutant genotypes of MBP did not show significant difference between tuberculosis patients and control by Mantel-Haenszel chi2 on sex. The univariate analysis demonstrated that body mass index, marital status, vaccinal vestige, bacillus of Calmette-Guerin vaccine immunization, contacted with pulmonary tuberculosis patients, familial traits were the risk factors of pulmonary tuberculosis. After adjusting those related environmental factors in the multivariate logistic analyses, the total MBP (MBP-52, MBP-54 and MBP-57) and MBP-52 heterozygote genotypes were significantly overrepresented in cases, with adjusted OR (95% CI) being 2.182 (1.058-4.499) and 2.574 (1.028-6.446). CONCLUSION: Total MBP and MBP-52 mutant genotypes might be associated with the susceptibility to pulmonary tuberculosis.