慢性阻塞性肺疾病TNFA和LTA基因等位基因变异分析_医学论文.docVIP

慢性阻塞性肺疾病TNFA和LTA基因等位基因变异分析_医学论文 慢性阻塞性肺疾病TNFA和LTA基因等位基因变异分析_医学论文 【摘要】 研究中国北方汉族人群中TNF超家族基因等位基因变异是否与慢性阻塞性肺疾病（COPD）相关联。方法 以50例COPD患者为研究对象，应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法研究TNF超家族基因（TNFA和LTA）等位基因变异分布。结果 COPD组TNFA基因多态性位点-308G/A AA基因型频率明显高于对照组（0.01）,OR值为10.756（95% CI为9.875～12.640） COPD组-308G/A多态性位点A等位基因频率明显高于对照组（0.01）；COPD组LTA基因+252A/G多态性位点AG基因型频率明显高于对照组（0.01），OR值为4.373（95% CI为3.301～6.872）。COPD组TNFA基因GG正常基因型和LTA基因AG杂合基因型结合个体频率明显高于对照组（P﹤0.05）。2组间LTA基因+252 A/G多态性位点G等位基因频率差异无统计学意义(P＞0.05)。结论 中国北方汉族人群LTA基因等位基因变异、TNFA基因多态性变异组合与COPD相关联。 【关键词】 慢性阻塞性肺疾病 TNFA基因 LTA基因 遗传多态性 Abstract: Objective To investigate whether TNF-gene allele variation is associated with chronic obstructive pulmonary disease (COPD) of Han population in northern China. Methods 50 cases of COPD were selected as subjects for TNF-superfamily-gene (TNFA and LTA) allele variation distribution by the method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results Compared with the control group, ①COPD group had a higher frequency of AA-genotype at TNF-gene polymorphism space point-308G/A (0.01), OR value was 10.756 (95% CI as 9.875-12.640) ②COPD group had a higher frequency of A allele genotype at -308G/A polymorphism space point （0.01） ③COPD group had a higher frequency of AG allele genotype at LTA-gene +252A/G polymorphism space point (0.01), OR value was 4.737 (95% CI as 3.301-6.872) ④COPD group had higher frequency of TNFA-gene GG normal genotype and LTA-gene AG hybrid genotype (0.05). ⑤No significant difference in frequency of G allele genotype at LTA-gene polymorphism space point +252A/G was found between COPD group and the control group (P＞0.05). Conclusion The LTA-gene allele variation and the TNFA-gene polymorphism variation are associated with COPD in Han population in northern China. Key words: chronic obstructive pulmonary disease TNFA gene LTA gene genetic polymorphism 慢性阻塞性肺疾病（chronic obstructive pulmonary disease, COPD）是内科系统常见病、多发病，慢性炎症是COPD发病过程中的重要特征。参与肺部炎症调节的细胞因