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

Association between polymorphism of S1, S2 locus allele in ADAM33 gene and chronic obstructive pulmonary disease in Xinjiang Uygur population

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。

Objective To investigate the association between polymorphism of S1, S2 locus allele in ADAM 33 gene and chronic obstructive pulmonary disease （COPD） and lung function in Xinjiang Uygur population. Methods Blood sam-ples from 217 COPD patients and 218 healthy controls were collected. Samples of DNA was extracted, and S1, S2 single nu-cleotide polymorphism （ADAM 33） was detected by ABI SNaPshot SNP genotyping. Results There were no significant dif-ferences in the frequencies of S1 locus CC, CT, TT genotypes and C, T alleles between patient group and control group （P〉0.05）. There were no significant differences in the frequencies of S1 locus CC, CG, GG genotypes and C, G alleles between patient group and control group （P〉0.05）. In patient group, there were no significant differences in S1, S2 locus genotype and clinical indicators of lung function display, and in the FEV1%predicted and FEV1/FVC （P〉0.05）. Haplotype analysis showed that there were no significant differences in three kinds of haplotypes between patient group and control group （ P〉0.05）. Conclusion There is no significant difference in the polymorphism of S1, S2 locus allele in ADAM 33 gene and the susceptibility to COPD in Xinjiang Uygur population.