白细胞介素13基因启动子区多态性与特发性肺纤维化的关系

The study of interleukln-13 gene promoter polymorphism in patients with idiopathic pulmonary fibrosis

目的探讨白细胞介素13（IL-13）基因启动子区-1112（C/T）位点基因多态性与特发性肺纤维化（IPF）的相关性。方法研究组IPF患者70例，根据肺功能分为3个亚组，以A（弥散功能轻度下降，22例）、B（弥散功能中度下降，20例）、C（弥散功能重度下降，28例）组表示，80例健康体检者作为对照组。外周血提取基因组DNA，采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）检测IL-13基因启动子区-1112（C/T）位点的基因多态性。结果研究组IL-13基因启动子区-1112（C/T）位点的基因多态性分布为CC纯合子28例（40．O％），TT纯合子6例（8．6％），CT杂合子36例（51．4％）；对照组CC纯合子30例（37．5％），TT纯合子11例（13．8％），CT杂合子39例（48．8％），-1112（C/T）位点等位基因C、T在两组间分布及三种基因型之间构成比比较差异无统计学意义（P〉0．05）。A组CT和TT基因型共9例（40．9％），B组CT和TT基因型共10例（50．0％），C组CT和TT基因型共23例（82．1％），三组间比较差异有统计学意义（P均〈0．05）。结论IL—13基因启动子区-1112（C/T）位点基因多态性与IPF的发病无关，但与其肺弥散功能的损害程度有关。

Objective To investigate the potential correlation of interleukin- 13 （IL- 13 ）gene promoter -1112（C/T）polymorphism with idiopathic pulmonary fibrosis（IPF）. Methods According to the dif- fusion for carbon monoxide （DLCO） or diffusion coefficient （DLCO/VA）, 70 patients with IPF （investigation group） divided into three groups （group A, group B and group C）and gO healthy controls （control group ） were investigated. The IL-13 gene promoter-1112 （C/T）polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis. The pulmonary diffusion function was measured by DLCO and DLCONA. Results The IL-13 gene promoter -1112（C/T）polymorphism frequency of the homozygous CC ,homozygous TT and heterozygous CT was 40.0% （28 cases）, 8.6% （6 cases ） and 51.4% （36 cases）in investigation group. The frequency of the homozygous CC, homozygous TT and bet- erozygous CT was 37.5% （30 cases）, 13.8% （ 11 cases） and 48.8%（39 cases）in control group. There were no significant differences in the distribution of the three genotypes between the two groups （P 〉 0.05 ）. The frequency of the heterozygous CT and homozygous TT was 40.9% （9/22）in group A, 50.0% （10/20） in group B and 82.1% （23/28）in group C..There were significant differences in the distribution of the three genotypes among group A, B and C （P 〈 0.05 ）. Conclusion IL- 13 gene promoter - 1112 （C/T）polymorphism may not be involved in the development of the IPF and may be related to pulmonary diffusion function.