目的：探究整合素-金属蛋白酶33（ADAM33）基因F+1、S2、T1、ST+5位点多态性与新疆地区哈萨克族慢性阻塞性肺疾病（COPD）易感性的关系。方法选择193例对照组及197例COPD病例组，提取外周血标本DNA，运用SNaPshot SNP分型技术检测ADAM33基因各位点多态性。结果病例组与对照组F+1位点的基因型及等位基因频率分布比较差异有统计学意义（P<0.05）。病例组中，F+1位点CC、CT、TT 3种基因型肺功能相关指标第1秒用力呼气容积（FEV1）预计值（%）、FEV1/用力肺活量（FVC）比较差异无统计学意义。病例组与对照组S2、ST+5、T1位点的基因型及等位基因频率分布比较差异无统计学意义；F+1、S2位点进行单体型分析显示Hap1（CC）在对照组和病例组分布差异有统计学意义（P<0.05），且OR<1，表明此单体型可能降低发生COPD的风险；Hap3（TC）在对照组和病例组分布差异有统计学意义（P<0.05），且OR>1，表明此单体型可能增加了COPD发病的风险；Hap2（TG）、Hap4（CG）单体型在2组间分布差异无统计学意义；病例组及对照组T1、ST+5位点3种单体型比较差异无统计学意义。结论 ADAM33基因F+1位点多态性可能与新疆哈萨克族人群COPD的发生有关。%Objective To explore correlation of Xinjiang Kazakh population who suffered from COPD with polymor⁃phisms of F+1,S2,T1,ST+5 locus of ADAM33 gene. Methods Blood samples (n=193) from healthy controls (Control group, n=193) and COPD patients (Case group, n=197) were detected by SNP SNaP shot. Results Comparing case group with the control group, gene frequency and allele frequency of F+1 locus were of significant differences (P<0.05). In patient group, there were no significant differences in F+1 locus genotype and in clinical indicators include lung function FEV1 predicted and FEV1/FVC (P>0.05). The gene frequencies and allele frequency of S2、T1 and ST+5 locus were not significantly differ⁃ent between case group and control group (P>0.05). F+1 and S2 locus were analyzed by haplotype analysis which showed that there was significant differences in Hap1 (CC) haplotype between case group and control group (P<0.05), and OR<1 indicated that its haplotype may reduce the risk of COPD . There were significant differences (P<0.05) in Hap3(TC) haplo⁃type between case group and control group and OR>1 revealed that its haplotype may increase the risk of COPD . The distri⁃bution of Hap2 (TG) and Hap4 (CG) were not significantly different (P>0.05) between the 2 groups. T1 and ST+5 locus were analyzed by haplotype analysis which showed significant differences in haplotypes between case group and control group (P<0.05). Conclusion The occurrence of COPD may be related to the polymorphism of ADAM33 gene in F+1 locus in Xinjiang Kazakh.
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