中国新疆维吾尔族转化生长因子β1基因多态性与慢性阻塞性肺疾病的相关性研究  

ASSOCIATION OF TRANSFORMING GROWTH FACTOR β1 GENE POLYMORPHISMS WITH CHRONIC OBSTRUCTIVE PULMONARY DISEASE IN UYGHUR ETHNIC GROUP IN CHINA

作　　者：宋兴勃[1] 范红[1] 周易[1] 张磊[1] 陆小军[1] 王军[1] 叶远馨[1] 应斌武[1] 

机构地区：[1]四川大学华西医院实验医学科,成都610041

出　　处：《现代预防医学》2010年第5期910-913,共4页Modern Preventive Medicine

基　　金：国家自然科学基金资助(30900658)

摘　　要：[目的]研究中国新疆维吾尔族转化生长因子β1(transforming growth factorβ1,TGF-β1)基因单核苷酸多态性与慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)的关系。[方法]应用等位基因特异性引物PCR(allele-specific primer-polymerase chain reaction,ASP-PCR)技术,检测75例维吾尔族COPD病人和153例维吾尔族正常人TGF-β1基因+869位点T/C和+915位点G/C单核苷酸的多态性。[结果]经Hardy-Weinberg平衡法检验TGF-β1基因位点在病例组和正常对照组中具有群体代表性。TGF-β1基因+869T/C位点基因型分布为:对照组:TT,41.8%;CT,38.6%和CC,19.6%;COPD组:TT,36.0%;CT,46.7%和CC,17.3%。T和C等位基因的频率在对照组为61.1%、38.9%;在COPD组为59.3%、40.7%。+915G/C位点基因型分布为:对照组:GG,81.7%;GC,18.3%和CC,0.0%;COPD组:GG,80.0%;GC,18.7%和CC,1.3%。G和C等位基因的频率在对照组为90.8%、9.2%;在COPD组为89.3%、10.7%。在COPD和对照组中TGF-β1基因+869T/C和+915G/C位点的基因型频率分布和等位基因频率差异均无统计学意义(P﹥0.05)。[结论]TGF-β1基因+869位点T/C和+915位点G/C单核苷酸多态性可能与新疆维吾尔族COPD的发病无关。[Objective] To study the relationship of transforming growth factor β1（TGF-β1） gene polymorphism and predisposition to chronic obstructive pulmonary disease（COPD） in Uyghur nationality in China.[Methods] The region of the TGF-β1 gene（869T/C and 915G/C） was studied in 75 Chinese Uygur patients with COPD and 153 normal controls by using allele-specific primer-polymerase chain reaction（ASP-PCR）.[Results] The genotype distribution of ＋869T/C polymorphism in control subjects was as follows：TT,41.8%;CT,38.6% and CC,19.6%;and in COPD patients was as follows：TT,36.0%;CT,46.7% and CC,17.3%.The allele frequency of T and C was 61.1% and 38.9% in controls,59.3% and 40.7% in COPD patients.The genotype distribution of ＋915G/C polymorphism in control subjects was as follows：GG,81.7% ;GC,18.3% and CC,0.0%;and in COPD patients was as follows：GG,80.0%;GC,18.7% and CC,1.3%.The allele frequency of G and C was 90.8% and 9.2% in controls,89.3% and 10.7% in COPD patients.The distribution of genotypes at locus ＋869 and ＋915 was not significantly different between Chinese Uygur patients with COPD and controls（P﹥0.05）,a significant difference in allele frequencies of ＋869 T/C and ＋915 G/C between Chinese Uyghur patients with COPD and control was not observed too（P﹥0.05）.[Conclusion] The ＋869 and ＋915 SNPs of TGF-β1 gene might not be associated with the COPD susceptibility in Uyghur nationality in China.

关 键 词：TGF-Β1基因 单核苷酸多态性 慢性阻塞性肺疾病 维吾尔族 

分 类 号：R563[医药卫生—呼吸系统]