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

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(40.0%),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.

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

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 diffusion 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 80 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 hetorozygous 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 heterozygous 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.