慢性阻塞性肺疾病TNFA和LTA基因等位基因变异分析

The analysis of TNFA and LTA-gene allele variation in COPD patients

目的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/AAA基因型频率明显高于对照组(P<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(P<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(P<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+252A/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。

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, （1）COPD group had a higher frequency of AA - genotype at TNF - gene polymorphism space point - 308G/A （ P 〈 0.01 ）, OR value was 10. 756 （95% CI as 9. 875 - 12. 640） ; （2）COPD group had a higher frequency of A allele genotype at -308G/A polymorphism space point （ P 〈 0.01 ） ; （3）COPD group had a higher frequency of AG allele genotype at LTA - gene ＋ 252A/ G polymorphism space point （P 〈0.01 ）, OR value was 4. 737 （95% CI as 3. 301 -6. 872） ; （4）COPD group had higher frequency of TNFA - gene GG normal genotype and LTA - gene AG hybrid genotype （ P 〈 0.05 ）. （5）No 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 polvmorphism variation are associated with COPD in Han population in northern China.