ADAM33基因Q-1、T2位点多态性与新疆哈萨克族、汉族人群慢性阻塞性肺疾病易感性的关系

Association between Q-1, T2 locus allele in ADAM33 gene and chronic obstructive pulmonary disease in Xinjiang Kazak, Han population

目的:探究新疆哈萨克族、汉族慢性阻塞性肺疾病(COPD)与ADAM33基因Q-1、T2位点的相关性。方法:提取外周血标本DNA,运用SNa Pshot SNP分型技术检测ADAM33基因多态性。结果:哈族两组间相比,Q-1位点基因型分布频率比较差异有统计学意义(P<0.05)。哈族、汉族ADAM33基因Q-1位点各基因型的肺功能指标第一秒用力呼吸容积(FEV1)/用力肺活量(FVC)的比较差异有统计学意义(P<0.05),哈萨克族Q-1位点突变纯合子AA基因型、汉族杂合子GA基因型较GG基因型相比差异有统计学意义(P<0.05);在两民族病例组及对照组的比较中,T2位点基因型和Q-1、T2位点等位基因频率分布差异无统计学意义(P>0.05),病例组T2位点各基因型间肺功能相关指标FEV1预计值、FEV1/FVC比较差异无统计学意义(P>0.05)。结论:新疆哈萨克族及汉族ADAM33基因Q-1位点与COPD易感性可能有关。

Objective To explore the relationship of the ADAM33 gene Q-1,T2 single nucleotide polymorphism（SNP） and suffering from chronic obstructive pulmonary disease（COPD） in Xinjiang Kazakh and Han population. Methods Peripheral blood samples to extract DNA, and the single nucleotide polymorphisms of Q-1 and T2 in ADAM33 gene were detected by SNa Pshot SNP genotyping. Results Case group compared with the control group, frequencies of Q-1 locus genotypes and alleles were significant differences in Kazak（P〈0.05）.In patient group, there were significant differences in ADAM33 gene Q-1 locus genotypes FEV1% predicted,FEV1 / FVC of clinical indicators lung function in Kazak, Han（P〈0.05）. Kazak Q-1 locus AA genotype,Han GA genotype than GG genotype were significant difference.Compare Kazak AA genotype,Han GA genotype with GG genotype is more likely to cause COPD in Q-1 locus（P〈0.05）. In the comparison of the case and control group the two ethnic, there was no significant difference between the frequencies of T2 locus genotypes and the frequencies of Q-1,T2 the alleles（P〈0.05）. There were no significant differences in T2 locus genotypes and clinical indicators of lung function FEV1% predicted and FEV1 / FVC in patient group（P〉0.05）. Conclusion The ADAM33 gene Q-1 locus may be related to the COPD susceptibility in Xinjiang Kazak, Han.