中文摘要：

目的：通过观察慢性阻塞性肺疾病（COPD）稳定期患者、COPD合并肺动脉高压（PH）患者及健康者之间SOX5基因单核苷酸多态性（SNPs）的分布差异,初步探索SOX5基因多态性与COPD相关PH易感性的关联。方法：连续选择2013年4月~2015年4月就诊于宁夏人民医院总院及宁南分院呼吸内科的COPD稳定期患者250例,根据COPD诊治指南（2013年版）诊断标准入组,并且就诊当天全部进行超声心动图检查,根据肺动脉收缩压（PASP）结果分为COPD合并PH组（PASP≥50 mm Hg）103例和COPD非PH组（PASP〈50 mm Hg）147例。健康对照组选择同期在宁夏人民医院体检的健康者127例。使用Sequenom Mass ARRAY SNP检测系统检测所有受试者SOX5基因rs10842262和rs11046966位点的基因型,统计基因型频率并对比各组间差异。结果：健康对照组与COPD组之间（包括COPD合并PH及未合并PH组的全部患者）以及COPD合并PH组与COPD非PH组之间在年龄、性别和吸烟指数上的差别均无统计学显著性。健康对照组与COPD组之间SOX5基因rs10842262位点及rs11046966位点基因型频率分布的差异均存在统计学显著性（P〈0.05）。COPD合并PH组与COPD非PH组之间SOX5基因rs10842262位点及rs11046966位点各基因型频率分布的差异无统计学显著性。结论：SOX5基因rs10842262和rs11046966位点的基因多态性与COPD的易感性相关,但与COPD相关PH的易感性还不能认为有关联。

英文摘要：

AIM： To investigate the differences in the distribution of SRY-related HMG box 5（ SOX5） gene single nucleotide polymorphisms（ SNPs） among stable chronic obstructive pulmonary disease（ COPD） patients,COPD with pulmonary hypertension（ PH） patients and healthy controls,and to explore the association of the SOX5 SNPs in COPD-related PH. METHODS： From April 2013 to April 2015,250 patients with stable COPD were enrolled continuously in Ningxia People＇s Hospital according to COPD treatment guidelines（ 2013 edition）. All the patients received echocardiography,and were divided into COPD with PH group [pulmonary artery systolic pressure（ PASP） ≥50 mm Hg,n = 103]and COPD without PH group（ PASP 50 mm Hg,n = 147）. The healthy persons（ matched for age,sex,race and smoking index,n = 127） were selected as control group at the same period. Genotyping of SOX5 gene rs10842262 and rs11046966loci was performed using MassA RRAY genotyping system（ Sequenom）. Genotype frequencies were calculated. RESULTS： Age,sex and smoking index showed no significantly difference between control group and COPD group,neither between COPD with PH group and COPD without PH group. Genotype frequencies of SOX5 gene rs10842262 and rs11046966 loci between control group and COPD group was of significant difference（ P〈0. 05）. Genotype frequencies of SOX5 gene rs10842262 and rs11046966 loci showed no significant difference between COPD with PH group and COPD without PH group. CONCLUSION： SOX5 gene rs10842262 and rs11046966 loci may play an important role in COPD,but not in COPD-related PH.