Zhu Xikai, Guo Wen, Ren Guoxia, He Xue, Hu Qunying, Zhang Yuan, Kang Longli, Yuan Dongya, Jin Tianbo
Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, China.
Am J Trop Med Hyg. 2016 Nov 2;95(5):1016-1020. doi: 10.4269/ajtmh.16-0056. Epub 2016 Sep 26.
In this study, we aim to explore the correlation between single nucleotide polymorphisms (SNPs) in the P2X7R gene and pulmonary tuberculosis (PTB) susceptibility in the Tibetan Chinese population in China. We examined 467 patients with active PTB and 504 healthy controls living in Xi'an and the surrounding area. Eight P2X7R SNPs were genotyped, and association analysis was performed. Odds ratios (ORs) and 95% confidence intervals (CIs) were tested by unconditional logistic regression analysis to evaluate the effects of the polymorphisms on PTB risk. P2X7R SNP association analyses were performed using SPSS 17.0 statistical packages and Microsoft Excel, SNP statistics software, Haploview software package (version 4.2), and SHEsis software platform. The results show that the "C" allele of rs656612 in the P2X7R gene was associated with an increased PTB risk by the additive model (OR = 1.307, 95% CI = 1.088-1.570, P = 0.004) and dominant model (rs656612, OR = 1.490, 95% CI = 1.153-1.926, P = 0.002). The "A" allele of rs208290 showed an increased PTB risk by the additive model (OR = 1.418, 95% CI = 1.179-1.706, P < 0.001) and dominant model (OR = 1.680, 95% CI = 1.297-2.177, P < 0.001), whereas the "A" allele of rs7958311 showed an increased risk by the additive model (rs7958311, OR = 1.260, 95% CI = 1.055-1.505, P = 0.011) and recessive model (OR = 1.609, 95% CI = 1.200-2.158, P = 0.001). After Bonferroni correction, rs208290 was found to be associated with PTB in the allele, dominant, and genotype models. In conclusion, our study revealed a significant association between three P2X7R gene polymorphisms (rs656612, rs208290, and rs7958311) and PTB in a Tibetan Chinese population.
在本研究中,我们旨在探讨中国藏族人群中P2X7R基因单核苷酸多态性(SNP)与肺结核(PTB)易感性之间的相关性。我们检查了居住在西安及周边地区的467例活动性PTB患者和504例健康对照。对8个P2X7R SNP进行基因分型,并进行关联分析。通过无条件逻辑回归分析检验比值比(OR)和95%置信区间(CI),以评估多态性对PTB风险的影响。使用SPSS 17.0统计软件包、Microsoft Excel、SNP统计软件、Haploview软件包(4.2版)和SHEsis软件平台进行P2X7R SNP关联分析。结果显示,P2X7R基因中rs656612的“C”等位基因通过加性模型(OR = 1.307,95% CI = 1.088 - 1.570,P = 0.004)和显性模型(rs656612,OR = 1.490,95% CI = 1.153 - 1.926,P = 0.002)与PTB风险增加相关。rs208290的“A”等位基因通过加性模型(OR = 1.418,95% CI = 1.179 - 1.706,P < 0.001)和显性模型(OR = 1.680,95% CI = 1.297 - 2.177,P < 0.001)显示PTB风险增加,而rs7958311的“A”等位基因通过加性模型(rs7958311,OR = 1.260,95% CI = 1.055 - 1.505,P = 0.011)和隐性模型(OR = 1.609,95% CI = 1.200 - 2.158,P = 0.001)显示风险增加。经过Bonferroni校正后,发现rs208290在等位基因、显性和基因型模型中与PTB相关。总之,我们的研究揭示了中国藏族人群中三个P2X7R基因多态性(rs656612、rs208290和rs7958311)与PTB之间存在显著关联。