缺氧诱导因子-1α基因多态性与慢性阻塞性肺疾病易感性的关系  

The correlation between polymorphism of hypoxia inducible factor-1α gene and susceptibility to chronic obstructive pulmonary diseases

作　　者：李冰[1,2] 贾晔然[1] 魏文婷[3] 陈淼[1] 张红璇[1] 

机构地区：[1]广东省人民医院(广东省医学科学院)急危重症医学部,广州510080 [2]汕头大学医学院急诊科 [3]广东省人民医院(广东省医学科学院)平洲分院综合科,广东佛山528251

出　　处：《广东医学》2013年第11期1691-1695,共5页Guangdong Medical Journal

基　　金：广东省科技计划项目(编号:2009B030801247)

摘　　要：目的检测缺氧诱导因子-1α(HIF-1α)基因第12外显子C1772T和G1790A单核苷酸多态性等位基因频率及其组合基因型分布特征,以探讨缺氧诱导因子-1α基因多态性与慢性阻塞性肺疾病(COPD)易感性的关系。方法选择COPD患者(病例组)120例和健康对照者(对照组)112例,利用PCR-RFLP技术检测两组人群HIF-1α基因C1772T和G1790A的多态性分布。结果经Hardy-Weinberg平衡法检测,HIF-1α基因位点在病例组和对照组中具有群体代表性。病例组HIF-1α基因C1772T的CC、CT、TT 3种基因型分布频率分别为87.5%、12.5%、0.0%,对照组分别为93.8%、6.2%、0.0%,两组比较差异无统计学意义(P>0.05);病例组C、T等位基因分布频率分别为93.8%、6.2%,对照组分别为96.9%、3.1%,两组比较差异也无统计学意义(P>0.05)。病例组HIF-1α基因G1790A的GG、GA、AA 3种基因型分布频率分别为96.7%、3.3%、0.0%,对照组分别为90.2%、9.8%、0.0%,两组比较差异有统计学意义(P<0.05)。病例组G、A等位基因的分布频率分别为98.4%、1.6%,对照组分别为95.1%、4.9%,两组比较差异也有统计学意义(P<0.05)。结论 HIF-1α基因C1772T单核苷酸多态性可能与我国南方汉族人群COPD的易感性无关,而HIF-1α基因G1790A单核苷酸多态性则可能与我国南方汉族人群COPD的易感性有关,HIF-1α基因SNP/G1790A的变异可能会降低COPD患者的发病风险。Objective To study the allele frequency distribution and the genotypes combination distribution of hypoxia inducible factor-1α gene（HIF-1α） exon 12 C1772T and G1790A in the patients with chronic obstructive pulmonary diseases（COPD） in southern Chinese population of Han nationality,thus to analyze the correlation between genetic polymorphism of HIF-1α and the susceptibility to COPD.Methods Polymerase chain reaction followed by restriction fragment length polymorphism analysis（PCR-RFLP） for HIF-1α gene was carried out in 120 patients with COPD and 112 healthy controls.Results The genotype frequencies of CC,CT and TT of C1772T polymorphism in COPD patients were 87.5%,12.5% and 0.0%,respectively;and 93.8%,6.2% and 0.0%,respectively in controls.The allele frequencies of C and T were 93.8% and 6.2%,respectively,in COPD patients;and 96.9% and 3.1%,respectively in controls.No significant difference was observed in the polymorphic genotype frequencies or allele frequencies in 1772C/T in exon 12 of HIF-1α gene between COPD and non-COPD subjects（P 0.05）.The genotype frequencies of GG,GA and AA of 1790G/A polymorphism were 96.7%,3.3% and 0.0%,respectively,in COPD patients;and 90.2%,9.8% and 0.0%,respectively,in control subjects.The allele frequencies of G and A were 98.4% and 1.6%,respectively,in COPD patients;and 95.1% and 4.9%,respectively,in controls.There were significant differences in both genotype distribution and allele frequency of 1790G/A polymorphism between the two groups（P0.05）.Conclusion The genetic polymorphism of 1790G/A in HIF-1α gene may be correlated with the risk of COPD among the population of Han nationality of China.

关 键 词：缺氧诱导因子-1Α 慢性阻塞性肺疾病 单核苷酸多态性 易感性 

分 类 号：R735.34[医药卫生—肿瘤]