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[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 investigate the relationship between single nucleotide polymorphism of transforming growth factor β1 (TGF-β1) gene and chronic obstructive pulmonary disease (COPD) in Xinjiang Uygur nationality. [Method] The allele-specific primer-polymerase chain reaction (ASP-PCR) method was used to detect 758 Uighur COPD patients and 153 Uighur normal people’s TGF-β1 gene +869 site T / C and +915 G / C single nucleotide polymorphisms. [Result] The results of Hardy-Weinberg equilibrium test showed that the TGF-β1 gene locus was representative of the group in the case group and the normal control group. The distribution of TGF-β1 gene + 869T / C locus was as follows: control group: TT, 41.8%; CT, 38.6% and CC, 19.6%; COPD group: TT, 36.0%; CT, 46.7% . The frequencies of T and C alleles were 61.1% and 38.9% in the control group and 59.3% and 40.7% in the COPD group. The genotype distribution of +915 G / C locus was as follows: control group: GG, 81.7%; GC, 18.3% and CC, 0.0%; COPD group: GG, 80.0%; GC, 18.7% and CC, 1.3%. The frequencies of the G and C alleles were 90.8% and 9.2% in the control group and 89.3% and 10.7% in the COPD group. There were no significant differences in genotype frequency and allele frequency between TGF-β1 + 869T / C and + 915G / C loci in COPD and control groups (P> 0.05). [Conclusion] The G / C SNPs at T / C and +915 of +869 locus in TGF-β1 gene may not be related to the pathogenesis of COPD in Xinjiang Uygur nationality.