转化生长因子-β_1 T869C G915C基因多态性与特发性肺纤维化的相关性研究

Idiopathic pulmonary fibrosis in relation to the gene polymorphisms of transforming growth factor-beta1 T869C G915C

目的 研究转化生长因子-β1（TGF-β1）T869C、G915C基因多态性与特发性肺纤维化（IPF）的相关性。方法 应用聚合酶链反应-限制性内切酶片段长度多态性技术（PCR-RFLP）检测2002年1月至2006年1月在首都医科大学附属北京朝阳医院住院确诊的47例IPF患者和47例年龄、性别、民族、吸烟情况匹配的对照者的TGF—β1 T869C、G915C基因多态性。结果 IPF组和对照组TGF—β1 T869C基因型频率分布趋势不同，差异有显著性意义（P〈0．05）；2组中等位基因频率分布趋势相似，差异无显著性意义（P〉0．05）。IPF组与对照组比较，TC基因型的OR值为0．421，95％CI为0、184～0．964，与IPF的发生呈显著负相关；而CC基因型的OR值为2．374，95％CI为1、038～5．433，与IPF的发生呈显著正相关。IPF组和对照组TGF-β1 G915C基因的CC突变基因型与C等位基因频率均为0。结论 TGF-β1＋915位点基因多态性与IPF的发生可能无相关性，而TGF-β1＋869位点的TC基因型和CC基因型可能与IPF的发生有关，提示有必要进一步扩大样本量进行TGF-β1＋869位点基因多态性与IPF关联的相关研究。

Objective To observe the relationship between the gene polymorphisms of Transforming Growth Factor-beta 1 （TGF-β1）T869C,G915C and Idiopathic Pulmonary Fibrosis（IPF）. Methods Polymerase chain reaction（PCR）and restriction fragment length polymorphism（RFLP） were performed to analyze the TGF-β1 T869C ,G915 C gene polymorphisms in 47 IPF patients and 47 heahhy controls matched in age,sex, race and smoke state. Results （ 1 ） There was a significant difference in T869C genotype distribution of TGF-β1 between IPF cases and controls（ P 〈 0. 05 ） ;however, there was no significant difference in T869C allele gene frequencies of TGF-β1 （ P 〉 0. 05 ）. The OR of TC genotype for IPF was 0. 421 （95% CI：0. 184 -0. 964）, showing a significant negative association between TC genotype and the development of IPF. The OR of CC genotype for ＇IPF was 2. 374（95% CI：1. 038 -5. 433 ）, showing a positive association between CC genotype and the development of IPF. （2）The frequencies of the CC mutational genotype of TGF-β1 G915C were 0% in both IPF cases and controls. The frequencies of C allele gene in both IPF cases and controls were 0%. Conclusion It is concluded that the TGF-β1 G915C gene polymorphism may have no effect on the predisposition to IPF;however,the TC genotype and CC genotype of TGF-β1 T869C may have significant influence on the susceptibility to IPF.