Objective To explore the relationship of two single nucleotide polymorphisms(SNPs),rs13118928 and rs1828591,of HHIP gene with chronic obstructive pulmonary disease (COPD) susceptibility in Kazakh population in Xinjiang,China.Methods The participants enrolled were 214 inpatients and outpatients(case group) who received treatment of department of respiratory medicine,and 350 healthy controls(control group) underwent physical examination,in Ili Kazak Autonomous Prefecture Friendship Hospital,Xinhua Hospital,and the First Affiliated Hospital of the Medical College,Shihezi University from October 2014 to May 2016.Pulmonary function measurement apparatus produced by an American company,Medgraphics Corp.was used to measure the forced vital capacity(FVC),forced expiratory volume in one second (FEV1),FEV1% predicted,and FEV1/FVC ratio.The imLDRTM technique for SNP genotyping was used to detect the polymorphisms of HHIP gene in peripheral venous blood cells.Results The patterns of genotype and allele frequencies of rs13118928 at the HHIP locus did not differ significantly between the groups(P>0.05).The patterns of genotype and allele frequencies of rs1828591 at the HHIP locus in the case group were not obviously different from those of in the control group(P>0.05).FEV1% predicted and FEV1/FVC ratio did not differ substantially between the patients in the case group by rs13118928 genotypes(P>0.05).No differences in FEV1% predicted and FEV1/FVC ratio were found between the patients in the case group by rs1828591 genotypes(P>0.05).The groups did not display notable differences in the patterns of haplotype frequencies for rs13118928 and rs1828591 at the HHIP locus(P>0.05).Conclusion The two SNPs (rs13118928 and rs1828591) at the HHIP gene locus have no significant correlation with COPD susceptibility in Kazakh population in Xinjiang,China.%目的 探讨HHIP基因rs13118928、rs1828591位点单核苷酸多态性(SNPs)与新疆哈萨克族慢性阻塞性肺疾病(COPD)易感性的关系.方法 选取2014年10月-2016年5月在伊犁州友谊医院、新华医院、石河子大学医学院第一附属医院呼吸科住院及门诊就诊的COPD患者214例为病例组.另选取同期在这几家医院进行体检的健康者350例为对照组.统一使用美国Medgraphics公司的肺功能仪进行用力肺活量(FVC)、第1秒用力呼气末容积(FEV1)测定,并记录FEV1占预计值百分比、FEV1/FVC.所有受试者抽取外周静脉血标本,提取标本DNA,运用imLDRTM多重SNP分型技术检测HHIP基因各位点的多态性.结果 两组rs13118928位点基因型及等位基因分布比较,差异均无统计学意义(P>0.05).两组rs1828591位点基因型及等位基因分布比较,差异均无统计学意义(P>0.05).病例组rs13118928位点不同基因型患者FEV1占预计值百分比、FEV1/FVC比较,差异均无统计学意义(P>0.05).病例组rs1828591位点不同基因型患者FEV1占预计值百分比、FEV1/FVC比较,差异均无统计学意义(P>0.05).两组HHIP基因rs13118928、rs1828591两位点单体型分布比较,差异无统计学意义(P>0.05).结论 HHIP基因rs13118928、rs1828591位点SNPs与新疆哈萨克族COPD易感性无明显关系.
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