新疆维族、汉族 COPD 易感性与 ADAM33基因 F+1、V4 位点多态性的关系

摘要

目的 探讨新疆维族、汉族慢性阻塞性肺疾病(COPD)易感性与解整合素-金属蛋白酶33(ADAM33)基因F+1、V4位点多态性的关系. 方法 收集200例维族吸烟COPD患者(维族病例组)和211例维族吸烟健康者(维族对照组);199例汉族吸烟COPD患者(汉族病例组)和210例汉族吸烟健康者(汉族对照组)外周血标本,使用酚氯仿法提取DNA,运用美国生物应用系统公司( ABI) SNaPshot SNP分型技术检测ADAM33基因F+1、V4位点单核苷酸多态性. 采用方差分析分析两民族病例组ADAM33基因F+1、V4位点基因型与肺功能相关临床指标的关系. 结果 维族、汉族病例组和对照组F+1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均无统计学意义(P均>0.05);V4位点GG、CG、CC 3种基因型分布和C、G等位基因分布频率比较差异均无统计学意义( P均>0.05). 维族病例组F+1、V4 位点各基因型间第一秒用力呼气容积占预计值的百分比( FEV1%pred)、第一秒用力呼气容积占用力肺活量的百分比(FEV1/FVC)比较差异均无统计学意义(P均>0.05);汉族病例组V4位点GG基因型较其他基因型FEV1%pred、FEV1/FVC差异有统计学意义(P均<0.05);F+1位点3种基因型间肺功能比较差异无统计学意义(P均>0.05). 结论 新疆维族、汉族COPD易感性与ADAM33基因F+1、V4位点多态性无关,汉族COPD患者V4位点GG基因型较其他基因型有更低的FEV1%pred、FEV1/FVC.%Objective To investigate the association between polymorphisms of F +1 and V4 locus in a disintegrin and metalloprotease domain 33 ( ADAM33 ) gene and susceptibility to chronic obstructive pulmonary disease ( COPD ) in Xinjiang Uygur and Han population .Methods The peripheral blood samples from 200 cases of COPD patients and 211 cases of healthy controls in smoking Uygur population and 199 cases of COPD patients and 210 cases of healthy controls in smoking Han population were collected .DNA was extracted .The single nucleotide polymorphism of F +1 and V4 ( ADAM 33 gene) was detected by ABI SNaPshot SNP genotyping .Variance analysis was used to analyze the association between F+1,V4 genotypes in ADAM33 gene and clinical indicators of lung function in patients between Uygur and Han population . Results There were no significant differences in the frequencies of F +1 locus CC, CT, TT genotypes and C, T alleles between the patient group and control group in Xinjiang Uygur and Han population (all P>0.05).There were no signifi-cant differences in the frequencies of V 4 locus GG,CG,CC genotypes and G , C alleles between the patient group and con-trol group in Xinjiang Uygur and Han population (all P>0.05).In the Uygur patient group, there were no significant differences in the percentage of forced expiratory volume in one second (FEV1)/the predicted value (FEV1% pred) and the percentage of forced expiratory volume in one second /forced vital capacity ( FEV1/FVC) between different genotypes of F+1,V4 locus (all P>0.05).In the Han patient group, there were significant differences in the percentage of FEV 1%pred and FEV1/FVC of V4 locus GG genotype (P<0.05).There were no significant differences in three genotypes of F +1 locus and clinical indicators of lung function (all P>0.05).Conclusions There is no significant correlation between the polymorphisms of F+1, V4 locus of ADAM 33 gene and the susceptibility to COPD in Xinjiang Uygur and Han popula-tion.COPD patients with V4 GG genotype have much lower FEV 1%pred and FEV1/FVC than that of the other genotypes in Han population .