新疆地区哈萨克族慢性阻塞性肺疾病易感性与ADAM33 基因多态性的关系

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。

Association between ADAM33 gene polymorphism with chronic obstructive pulmonary disease incidence in Kazakh of Xinjiang

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.