ADAM33基因S1、S2位点单核苷酸多态性与新疆维吾尔族COPD易感性的关系

Objective To explore the relationship between the single nucleotide polymorphisms (SNPs) at the S1 and S2 sites of the ADAM 33 gene and the susceptibility of patients with chronic obstructive pulmonary disease (COPD) in the Uygur ethnic group in Xinjiang, China. Methods Peripheral blood samples were collected from 217 patients with COPD (case group) and 218 healthy controls (control group). The DNA of the samples was extracted, and the single nucleotide polymorphisms at the S1 and S2 sites of the ADAM 33 gene were detected by using the SNaPshot SNP genotyping technology of Applied Biosystems Inc. (ABI) in the United States. Results There was no statistically significant difference in the distribution of the three genotypes (CC, CT, TT) and the distribution frequencies of the C and T alleles at the S1 site between the case group and the control group; there was no statistically significant difference in the distribution of the three genotypes (CC, CG, GG) and the distribution frequencies of the C and G alleles at the S2 site between the case group and the control group. The relationship between the genotypes at the S1 and S2 sites and the clinically relevant indicators of lung function in the case group showed that there was no statistically significant difference in the comparison of the predicted value (%) of the forced expiratory volume in the first second (FEV1) and the comparison of FEV1/forced vital capacity (FVC) among the three genotypes at the S1 and S2 sites. The results of haplotype analysis showed that there was no statistically significant difference in the three haplotypes between the case group and the control group. Conclusion There is no significant correlation between the SNPs at the S1 and S2 sites of the ADAM 33 gene and the susceptibility of patients with COPD in the Uygur ethnic group in Xinjiang.

目的探讨ADAM 33基因S1、S2位点单核苷酸多态性(SNP)与中国新疆维吾尔族慢性阻塞性肺疾病(COPD)患者易感性的关系。方法收集217例COPD患者(病例组)和218例健康对照者(对照组)外周血标本,提取标本DNA,采用美国生物应用系统公司(ABI)SNa Pshot SNP分型技术检测ADAM 33基因S1、S2位点单核苷酸多态性。结果病例组和对照组S1位点CC、CT、TT 3种基因型分布和C、T等位基因分布频率比较差异无统计学意义;S2位点CC、CG、GG 3种基因型分布和C、G等位基因分布频率比较差异无统计学意义。病例组S1、S2位点基因型与肺功能相关临床指标的关系显示:S1、S2位点3种基因型第1秒用力呼气容积(FEV1)预计值(%)比较、FEV1/用力肺活量(FVC)比较差异无统计学意义。单体型分析结果显示3种单体型在病例组和对照组中比较差异无统计学意义。结论 ADAM 33基因S1、S2位点SNPs与新疆维吾尔族人群COPD患者易感性无明显相关性。