Vitamin D receptor gene associations with pulmonary tuberculosis in a Tibetan Chinese population.

BACKGROUND: The vitamin D receptor (VDR) mediates the immunological function of vitamin D3, which activates macrophages, and vitamin D deficiency has been linked to tuberculosis risk. Single nucleotide polymorphisms (SNPs) in VDR may influence the function of vitamin D and susceptibility to tuberculosis. METHODS: This study included 217 patients with pulmonary tuberculosis (PTB) and 383 healthy subjects in a Tibetan Chinese population living in and near Xi'an. Association analyses of SNPs in VDR were performed with the SPSS 17.0 statistical packages, SNP stats software, Haploview software package (version 4.2), and the SHEsis software platform. RESULTS: Our results revealed a correlation between three SNPs (rs11574143, odds ratio [OR]: 1.47, 95 % confidence interval [CI]: 1.11 - 1.94, p = 0.006, p-adjust = 0.030; rs11574079, OR: 0.48, 95 % CI: 0.25 - 0.92, p = 0.023, p-adjust = 0.115; rs11168287, OR: 2.55, 95 % CI: 2.00 - 3.25, p = 1.730E-14, p-adjust = 0.865E-13) and PTB based on Chi-square tests. We observed the allele "A" of rs11574143 and rs11168287 increased the PTB risk and the allele "A" of rs11574079 provided a protective effect against PTB. CONCLUSIONS: The goal of this study was the identification of putative associations between five SNPs (rs11574143, rs7975232, rs11574079, rs3819545 and rs11168287) in VDR and susceptibility to PTB. Our findings demonstrated associations between VDR polymorphisms and PTB development.

Genetic variation in the TP63 gene is associated with lung cancer risk in the Han population.

Lung cancer is one of the most common malignant tumors that seriously threaten human health. Current evidence suggests that heredity contributes to the progression of lung cancer. To investigate and validate potential genetic associations with the risk of lung cancer, we conducted a case-control study including 309 cases and 310 controls from Xi'an City, which is located in northwest China, and genotyped six SNPs in five genes, which are related to metabolic process. Overall, our results show that the SNP rs10937405 was associated with a decreased occurrence of lung cancer (OR = 0.72; 95% CI = 0.56-0.92; p = 0.009). In the genetic models analysis, we found that genotype "CT" of rs10937405 in TP63 was associated with a decreased lung cancer risk (OR = 0.71; 95% CI, 0.51-0.99; p = 0.031); the genotype "TT" of rs10937405 showed a decreased lung cancer risk in the co-dominant model (OR = 0.53; 95% CI, 0.30-0.95; p = 0.031). The genotype "CT-TT" of rs10937405 also showed a decreased lung cancer risk in the dominant model (OR = 0.67; 95% CI, 0.49-0.92; p = 0.014) and the log-additive model (OR = 0.72; 95% CI, 0.56-0.92; p = 0.0085). The genotype "CC-CT" of rs10937405 confers a higher risk of lung cancer for males than females. Our results, combined with those from previous studies, suggest that genetic variation in TP63 may influence lung cancer susceptibility in the Han population.