rs548234 T/C与中国西南地区汉族人群结核发生风险的关联性研究  

Association study of rs548234 T/C with tuberculosis in Han population of southwest China

作　　者：商亚[1] 杨绍俊[1] 张可珺[1] 邓少丽[1] 贾双荣[1] 李发科[1] 蒋文斌[1] 唱凯[1] 卢婷[1] 潘锋[1] 陈鸣[1] 

机构地区：[1]第三军医大学第三附属医院野战外科研究所检验科,重庆400042

出　　处：《免疫学杂志》2013年第12期1060-1063,共4页Immunological Journal

基　　金：国家科技重大专项(2013ZX10003006-003-002)

摘　　要：目的在中国西南地区汉族人群中验证PRDM1-ATG5基因之间的rs548234 T/C单核甘酸多态性与结核病发生风险间的相关性。方法采用病例-对照研究设计,募集了234例结核病患者和208例健康对照个体。应用直接测序法对rs548234多态性进行分型,采用卡方检验和Logistic回归分析,校正性别和年龄等混杂因素的影响,评价rs548234位点与结核病发生风险,以及结核病亚型的遗传关联性。结果 rs548234位点在病例和对照组中的基因型分布均符合哈-温平衡。在整个研究人群中本位点与结核病的发生风险无遗传学关联。然而我们发现原发性肺结核病患者中CC基因型频率高于健康对照人群(CC vs TT:OR=2.14,95%CI=0.91～5.10,P=0.079;CC vs CT+TT:OR=2.50,95%CI=1.09～5.73,P=0.026),提示rs548234 C等位基因可能增加原发性肺结核病的发生风险。结论在中国西南地区汉族人群中PRDM1-ATG5基因之间的rs548234 T/C多态性位点可能参与了原发性肺结核病的发生发展。To investigate the correlation between rs548234T/C location and the susceptibility to tuberculosis （TB）, total of 234 tuberculosis patients and 208 matched healthy controls were detected for rs548234 single nucleotide polymorphism with polymerase chain reaction （PCR） and sequencing. Furthermore, chi-square test and logistic regression analysis were used to evaluate the association of rs548234 locus with TB risk and TB genetic subtypes, adjusting by gender and age. Results showed that rs548234 did not show deviation from Hardy-Weinberg equilibrium （HWE） in either the case or the control group, and there was no genetic association between the rs548234 and risk of TB in the entire study groups. However, we found that the CC genotype frequencies of patients with primary tuberculosis were higher than that of healthy controls （CC vs TF： OR=2.14, 95%CI=0.91-5.10, P= 0.079; CC vs CT＋TT： OR=2.50, 95%CI=1.09-5.73, P=0.026）, indicating that rs548234 C allele may increase the risk of primary TB. Our study shows that the genes rs548234 T/C polymorphism may be involved in the development of primary pulmonary TB （DPTB） of Han population in southwest China.

关 键 词：结核病 PRDM1/ATG5 单核苷酸多态性 遗传关联 

分 类 号：R521[医药卫生—内科学]