TGF-β1基因多态性与类风湿关节炎肺间质病变及中医证候的关联性研究  

Correlation study on single-nucleotide polymorphisms of TGF-β1 gene and pathogenesis of rheumatoid arthritis-interstitial lung disease and traditional Chinese medicine syndrome

作　　者：李松伟[1] 王济华[1] 杨科朋 郭洪涛[1] 李桓[3] 李纪高[1] 李增变 LI Song-wei;WANG Ji-hua;YANG Ke-peng;GUO Hong-tao;LI Huan;LI Ji-gao;LI Zeng-bian(The First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou 450000, China;Zhengzhou Traditional Chinese Medicine Hospital, Zhengzhou 450007, China;Henan University of Traditional Chinese Medicine, Zhengzhou 450046, China)

机构地区：[1]河南中医药大学第一附属医院,郑州450000 [2]郑州市中医院,郑州450007 [3]河南中医药大学,郑州450046

出　　处：《中华中医药杂志》2018年第7期3043-3047,共5页China Journal of Traditional Chinese Medicine and Pharmacy

基　　金：国家自然科学基金项目(No.U1204828)~~

摘　　要：目的:探讨转化生长因子-β1(TGF-β1)基因单核苷酸多态性(SNP)与类风湿关节炎肺间质病变(RA-ILD)发病及中医证侯的关联。方法:收集符合纳入标准的RA-ILD患者共280例,同时选取在性别、年龄方面匹配的352例健康人群作为正常对照组。采用Sequenom基因分型实验技术对TGF-β1基因的2个SNPs位点rs10417924、rs4803455分型,并对基因型和等位基因与中医证侯之间的关联进行分析。结果:在位点rs10417924,RA-ILD组CT基因型频率和T等位基因频率显著高于正常对照组(P=0.000,P=0.006);在rs4803455,RA-ILD组AC基因型频率和A等位基因频率显著低于正常对照组(P=0.000,P=0.013)。证候方面:在rs10417924,肺肾气阴两虚证病例组CT基因型频率和T等位基因频率显著低于非肺肾气阴两虚证组(P=0.021,P=0.041)。在rs4803455,肺肾气虚证病例组AC基因型频率显著高于非肺肾气虚证组(P=0.008),肺脾气虚证病例组A等位基因频率显著低于非肺脾气虚证组(P=0.045),肾阳虚证病例组AC基因型频率显著低于非肾阳虚证组(P=0.037)。结论:TGF-β1基因SNPs位点rs10417924可能是RA-ILD的风险位点,而rs4803455可能具有保护性作用。rs10417924可能与RA-ILD肺肾气阴两虚证相关,rs4803455可能与肺肾气虚证、肺脾气虚证和肾阳虚证相关。Objective： To explore the correlation between single-nucleotide polymorphism（SNPs） of transforming growth factor-β1（TGF-β1） gene and the pathogenesis of rheumatoid arthritis-interstitial lung disease（RA-ILD） and TCM syndrome types. Methods： A total of 280 cases of RA-ILD patients with inclusion criteria were collected, and 352 healthy people who matched the gender and age were selected as the normal control group. Two SNPs sites rs10417924 and rs4803455 were selected by sequenom genotyping for TGF-β1 gene, and the correlation between genotype and allele and TCM syndrome was analyzed. Results： At the site rs10417924, the CT genotype frequency and T allele frequency were significantly higher than those in the healthy control group（P=0.000, P=0.006）. At the site rs4803455, the frequency of AC genotype and A allele in the RAILD group were significantly lower than those in the healthy control group（P=0.000, P=0.013）. At the site of rs10417924, the CT genotype frequency and T allele frequency in the syndrome of both qi and yin deficiency of lung and kidney group were significantly lower than those in the non-that syndrome group（P=0.021, P=0.041）. At the site of rs4803455, the AC genotype frequency in patients with syndrome of qi defiency of lung and kidney group was significantly higher than those in the non-that syndrome group（P=0.008）. The frequency of A allete in the syndrome of qi deficeincy of lung and spleen group was significantly lower than that of the non-that syndrome group（P=0.045）. The frequenciy of AC genotype in patients with syndrome of kidneyyang deficiency was significantly lower than the frequency in patients with no that syndrome（P=0.037）. Concluison： The SNPs site rs10417924 may be the risk site of RA-ILD, while rs4803455 may be protective. The rs10417924 may be related to the syndrome of deficiency of both qi and yin in lung and kidney of RA-ILD. The rs10417924 may be realted to the syndrome of qi difiency of lung and kidney, syndrome of qi defiency of

关 键 词：类风湿关节炎 肺间质病变 证候 多态性 

分 类 号：R259[医药卫生—中西医结合]