目的 探讨HHIP基因单核苷酸多态性与新疆蒙古族慢性阻塞性肺疾病易感性之间的关系。方法 以259例蒙古族吸烟慢性阻塞性肺疾病患者为病例组,245例蒙古族吸烟健康体检者为对照组,提取外周血标本 DNA,运用Taqman分型技术检测HHIP基因rs13118928、rs13141461位点多态性。结果 HHIP基因rs13118928、rs13141461位点基因型与等位基因在病例组和对照组之间的频率分布,结果显示差异有统计学意义(P<0.05)。rs13118928位点基因型AG、GG,等位基因G在病例组与对照组分布差异有统计学意义(P<0.001),且OR<1,可能降低发生COPD的风险。rs13141461位点基因型TC在病例组与对照组分布差异无统计学意义(P>0.05),rs13141461位点基因型CC, 等位基因C在病例组与对照组分布差异有统计学意义(P<0.05),且OR>1,可能增加发生慢阻肺的风险。rs13118928、rs13141461位点基因型与肺功能 FEV1%预计值比较差异有统计学意义(P<0.05)。结论 HHIP基rs13118928、rs13141461位点多态性可能与新疆蒙古族人群慢阻肺的发生有关。

Objective To explore the relationship between HHIP gene single nucleotide polymorphism and the susceptibility of Mongolian chronic obstructive pulmonary disease.Methods DNAs were extracted from the peripheral blood of 259 patients with COPD (case group) and 245 healthy controls (control group) from Xinjiang Mongolian population. Polymorphisms of HHIP rs13118928 and rs13141461 were determined by the Taqman PCR method.Results The frequency of HHIP rs13118928 and rs13141461 genotypes and alleles in the case group and the control group showed significant difference (P<0.05). HHIP rs13118928 genotype, AG, GG and allele G were significantly different between case group and control group (P<0.001), and OR<1. It could reduce the risk of COPD. There was no significant difference in HHIP rs13141461 genotype TC between the case group and the control group (P>0.05). HHIP rs13141461 genotype CC and allele C were significantly different between the case group and the control group (P<0.05), and OR>1. It may increase the risk of COPD. The difference of HHIP rs13118928, rs13141461 and FEV1% predicted value was statistically significant(P<0.05).Conclusion The polymorphism of HHIP rs13118928 and rs13141461 may be related to the occurrence of COPD in Xinjiang Mongolian population.