HHIP基因多态性与汉族哮喘合并慢阻肺易感性的关系研究

Relationship between HHIP gene polymorphism and the overlap syndrome of asthma and COPD susceptibility in Chinese Han population

目的探讨HHIP基因多态性与汉族哮喘合并慢性阻塞性肺疾病(ACOS)易感性之间的关系。方法选取2016年10月~2018年10月于哈尔滨医科大学附属第二医院确诊为ACOS的汉族患者384例(病例组)及健康志愿者342例(对照组)。测定研究对象的FEV1%及FEV1/FVC。运用SNPs质谱分析技术检测HHIP基因rs1032295、rs1512288位点多态性。结果病例组与对照组HHIP基因rs1032295、rs1512288位点基因型、等位基因分布比较,差异有统计学意义(P<0.05)。rs1032295位点基因型GT、等位基因T和rs1512288位点基因型TC、基因型CC、等位基因C是发生ACOS的影响因素(P<0.05)。病例组HHIP基因rs1032295位点不同基因型患者FEV1%比较,差异有统计学意义(P<0.05)。结论HHIP基因rs1032295、rs1512288位点多态性可能与汉族人群ACOS的发生有相关性。

Objective To detect the relationship of single nucleotide polymorphism of HHIP gene with the overlap syndrome of asthma and COPD(ACOS) susceptibility in Chinese Han population. Methods From October 2016 to October 2018, 342 healthy volunteers were enrolled as control group, and 384 patients with ACOS from the Second Affiliated Hospital of Harbin Medical University were enrolled as the case group. Pulmonary function parameters such as FEV1%, FVC, and FEV1/FVC were measured in every subject. The Mass spectrometry analysis technique for SNP genotyping was used to detect the polymorphisms(rs1032295, rs1512288) of HHIP gene in peripheral venous blood cells. Results The patterns of genotype and allele frequencies of rs1032295 and rs1512288 at the HHIP gene differed significantly between the groups(P<0.05). FEV1% predicted varied substantially between the patients in the case group by rs1032295 genotype(P<0.05). The factors associated with ACOS were genotype GT(OR=0.646, 95%CI(0.465, 0.897)), allele T(OR=0.708, 95%CI(0.557, 0.901)) of rs1032295 and genotype TC(OR=2.139, 95%CI(1.488, 3.078)), genotype CC(OR=0.658, 95%CI(0.477, 0.909)), allele C(OR=0.662, 95%CI(0.526, 0.832)) of rs1512288(P<0.05). Conclusion The two single nucleotide polymorphisms(rs1032295 and rs1512288)at the HHIP gene locus are significantly correlated with ACOS susceptibility in Chinese Han population.