转化生长因子-β1与中国北方汉族慢性阻塞性肺疾病及其肺功能表型的相关性研究  

Genetic association of TGF-β1 and susceptibility to chronic obstructive pulmonary disease(COPD)and lung function in a north Chinese Han population

作　　者：安立[1] 林英翔[1] 庞宝森[1] 张鸿[1] 逯勇[1] 焦霞[1] 张曙[1] 杨汀[1] 

机构地区：[1]首都医科大学附属北京朝阳医院呼吸与危重症医学科北京呼吸疾病研究所北京市呼吸与肺循环疾病实验室,100020

出　　处：《中华临床医师杂志（电子版）》2011年第8期2293-2298,共6页Chinese Journal of Clinicians(Electronic Edition)

基　　金：首都医学发展科研基金(2007-1028);中华医学会慢性呼吸道疾病临床研究基金(07010090017);北京市科技计划项目(Z090507006209018);北京市科技新星(2009A11);北京市优秀人才(PYZZ090418001373)

摘　　要：目的探讨转化生长因子-β1(TGF-β1)基因在中国北方汉族人群中与慢性阻塞性肺疾病(COPD)易感性及肺功能表型的相关性。方法 310例中国北方汉族COPD患者和203名健康对照者进行肺功能表型的测定,采用等位基因特异性杂交法对TGF-β1基因的7个单核苷酸多态性(SNP)位点进行基因分型。采用Logistic回归和直线回归分析分别在显性、隐性和加性遗传模型下明确7个SNPs与COPD易感性及肺功能表型之间的关系。结果 (1)两组间的等位基因频率无统计学意义。(2)经过年龄、性别和吸烟指数的校正,未发现与COPD易感性显著相关的SNPs位点。(3)与肺功能表型的相关性分析发现,TGF-β1的3′端rs6957和外显子1的rs1800471分别与较低的第一秒用力呼气容积(FEV1)/用力肺活量(FVC)值显著相关(P<0.05)。(4)单体型分析发现TGF-β1的2个单体型与基线FEV1显著相关(P<0.05);上述两个单体型中包含有前述与FEV1/FVC值相关的阳性位点。结论在中国北方汉族中TGF-β1基因的两个SNPs位点,rs6957与rs1800471与基线肺功能表型相关。Objective To investigate the relationship between the TGF-β1 gene polymorphism and the susceptibility to chronic obstructive pulmonary disease(COPD)and the spirometric phenotypes.Methods In this study,we genotyped 7 SNPs from TGF-β1 gene in 310 cases and 203 controls,all of which were from North China and belonged to the Han population.Genotype frequencies were compared between the cases and the controls.Logistic regression and linear regression were used to determine the effects of the polymorphisms on the development of COPD and the baseline lung function,assuming dominant,recessive and additive genetic model.Results No significant differences were observed in genotypes and allele frequencies distributions of 7 SNPs between the cases and controls.The linear regression analysis indicated that two SNPs(rs6957 and rs1800471)were significantly associated with the lower forced expiratory volume in one second(FEV1)/forced vital capacity(FVC)(P<0.05).Two haplotypes which involved the two SNPs respectively were showed significantly associated with the lower FEV1(P<0.05).Conclusions The SNP rs6957 in 3' UTR and rs1800471 in exon 1 were associated with the spirometric phenotypes in Chinese Han population.

关 键 词：肺疾病 慢性阻塞性 呼吸功能试验 转化生长因子Β1 多态性 单核苷酸 

分 类 号：R563.9[医药卫生—呼吸系统]