关键词: 肺疾病, 慢性阻塞性；多态性, 单核苷酸；HHIP基因

Abstract: Objective　To explore the relationship of single nucleotide polymorphism of HHIP gene with chronic obstructive pulmonary disease（COPD） susceptibility in Mongolian population in Xinjiang，China.Methods　The participants enrolled were all from Bayingol Mongolian Autonomous Prefecture Hospital and Bortala Mongolian Autonomous Prefecture Hospital，including 259 inpatients and outpatients（case group） diagnosed as COPD，and 245 healthy controls（control group） underwent physical examination in physical examination center，from January 2016 to June 2017.Pulmonary function parameters such as FEV1%，FVC，and FEV1/FVC were measured.The SNaPshot technique for SNP genotyping was used to detect the polymorphisms（rs1489758，rs1492820） of HHIP gene in peripheral venous blood cells.Results　The patterns of genotype and allele frequencies of rs1489758 and rs1492820 at the HHIP gene differed significantly between the groups（P<0.05）．FEV 1% predicted varied substantially between the patients in the case group by rs1489758 and rs1492820 genotypes （P<0.05）．The factors associated with COPD are genotype GT〔OR=0.582，95%CI（0.396，0.854）〕，allele T 〔OR=0.639，95%CI（0.463，0.884）〕of rs1489758 and genotype GG〔OR=1.975，95%CI（1.153，3.384）〕，allele G〔OR=1.388，95%CI（1.076，1.790）〕of rs1492820（P<0.05）．Conclusion　The two single nucleotide polymorphisms （rs1489758 and rs1492820） at the HHIP gene locus significantly correlate with COPD susceptibility in Mongolian population in Xinjiang，China.

Key words: Pulmonary disease, chronic obstructive；Polymorphism, single nucleotide；HHIP gene