慢性阻塞性肺疾病TNFA和LTA基因等位基因变异分析

目的 研究中国北方汉族人群中TNF超家族基因等位基因变异是否与慢性阻塞性肺疾病(COPD)相关联.方法 以50例COPD患者为研究对象,应用聚合酶链反应一限制性片段长度多态性(PCR-RFLP)方法研究TNF超家族基因(TNFA和LTA)等位基因变异分布.结果 COPD组TNFA基因多态性位点-308G/A AA基因型频率明显高于对照组(P＜0.01),OR值为10.756(95%CI为9.875～12.640);COPD组-308G/A多态性位点A等位基因频率明显高于对照组(P＜0.01);COPD组LTA基因 252A/G多态性位点AG基因型频率明显高于对照组(P＜0.01),OR值为4.373(95%CI为3.301～6.872).COPD组TNFA基因GG正常基因型和LTA基因AG杂合基因型结合个体频率明显高于对照组(P＜0.05).2组间LTA基因 252 A/G多态性位点G等位基因频率差异无统计学意义(P＞0.05).结论 中国北方汉族人群m基因等位基因变异、TNFA基因多态性变异组合与COPD相关联.     

干扰素-γ＋874位点基因多态性与慢性阻塞性肺疾病的关系

目的：研究IFN-γ＋874位点基因多态性在内蒙古地区汉族人群慢性阻塞性肺病（COPD）患者中的频率分布,并分析其与COPD发病的相互关系。方法：采用病例对照研究方法进行相关资料的问卷调查,PCR-SSP法检测IFN-γ＋874位点在病例组与对照组中的各种基因型频率与等位基因频率。结果：COPD组IFN-γ＋874位点AA、AT、TT基因型的频率分别为82.8%、17.2%和0.0%;对照组AA、AT、TT基因型的频率分别为63.4%、33.3%、3.1%;COPD组IFN-γ位点＋874位点A、T等位基因频率分别为91.4%、8.6%,对照组中为80.3%、19.7%;COPD组IFN-γ＋874位点AA基因型频率及A等位基因频率均高于对照组,差异有统计学意义（P＆lt;0.05）。结论：IFN-γ＋874位点基因多态性与内蒙古地区汉族人群COPD的发病有关。     

中国山东汉族人群TIM-3基因启动子区域两单核苷酸多态与支气管哮喘的相关性

目的：检测中国山东汉族人群T细胞免疫球蛋白域和粘蛋白域蛋白 3（T cell immunoglobulin domain and mucin domain protein 3, TIM 3）基因启动子区域的单核苷酸多态（single nucleotide polymorphism,SNP）位点T 882C以及T 574G的多态性,探讨TIM 3基因启动子区域的单核苷酸多态与汉族人群支气管哮喘易感性的关系。方法：采用聚合酶链反应－限制性片断长度多态性（polymerase chain reaction and restriction fragment length polymorphism,PCR RFLP）法检测449例哮喘患者以及386例正常对照TIM 3基因启动子区域单核甘酸多态位点T 882C及T 574G的基因型,计算基因型频率及等位基因频率,进行χ2检验。结果：T 882C及T 574G在中国汉族人群中处于完全连锁不平衡状态,其基因型频率及等位基因频率一致;T 882C位点TT/TC/CC基因型频率以及T 574G位点TT/TG/GG基因型频率在病例组中为0/0.042?3/0.957?7,在对照组中为0/0.018?1/0.981?9;两位点的基因型、等位基因分布以及单倍体型分布在哮喘组与对照组之间均有统计学差异。结论：中国汉族人群TIM 3基因启动子区域单核苷酸多态T 882C、T 574G与支气管哮喘易感性相关。     

解整合素-金属蛋白酶33基因位点多态性与慢性阻塞性肺疾病的相关性研究

目的探讨解整合素-金属蛋白酶33（ADAM33）基因BC＋1及F＋1位点多态性与山西地区汉族人群慢性阻塞性肺疾病（COPD）的关系。方法采用聚合酶链式反应（PCR）、DNA测序及序列对比的方法对103例COPD患者（COPD组）和100例健康者（对照组）ADAM33基因的BC＋1及F＋1位点进行多态性分析。结果ADAM33基因BC＋1位点3种基因型AA、AG、GG基因型频率在COPD组中分别为15.5%、45.6%和38.8%,在对照组中分别为17.0%、56.0%和27.0%,两组基因构成比比较,差异无统计学意义（χ2=3.296,P〉0.05）,A和G等位基因型的频率在COPD组中分别为38.3%和61.7%,在对照组分别为45.0%和55.0%,两组比较差异无统计学意义（χ2=1.847,P〉0.05）。F＋1位点3种基因型AA、AG、GG基因型频率在COPD组中分别为20.4%、38.8%和40.8%,在对照组中分别为7.0%、51.0%和42.0%,两组构成比比较差异有统计学意义（χ2=8.287,P〈0.05）,A和G等位基因型的频率在COPD组中分别为39.8%和60.2%,在对照组分别为32.5%和67.5%,两组比较差异无统计学意义（χ2=2.345,P〉0.05）。BC＋1位点未发现有增加患COPD的风险（OR=0.760,P〉0.05）,但F＋1位点可能有增加患COPD的风险（OR=1.357,P〈0.05）。结论 ADAM33基因F＋1位点多态性对山西地区汉族人群COPD发病有一定相关性;但BC＋1位点多态性对该人群COPD发病的影响不明显。     

CC16基因38A/G多态性与慢性阻塞性肺疾病的相关性研究

目的：探讨C lara细胞分泌蛋白（CC16）基因38 A/G多态性与内蒙古地区汉族人群慢性阻塞性肺疾病（COPD）的相关性。方法：采用病例-对照研究方法和聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）技术,检测和分析COPD组（70例）与正常对照组（70例）CC16基因第1外显子38位点的各种基因型和等位基因频率。结果：COPD与对照组CC16基因第1外显子38位点的基因型频率和等位基因频率差异无统计学意义（P〉0.05）;COPD组与对照组中吸烟者CC16基因型频率比较差异有统计学意义（χ2=6.853,P〈0.05）,COPD组吸烟者AA基因型频率较不吸烟者明显增多（32.7%与8.0%）,AA型吸烟者患COPD的风险是非AA型吸烟者的4.082倍。结论：吸烟与CC16基因第1外显子38 A/G多态性在COPD的发病中存在交互作用,CC16基因可能是微效基因,其作用的发挥与吸烟密切相关。     

IL-6基因-597G/A与-572C/G多态性在湖北汉族人群中的分布

目的 :观察白细胞介素 6 (IL 6 )基因 5 97G/A与 5 72C/G多态性在湖北地区汉族人群中的分布及其与研究人群一般临床和生化特征的关系。方法 :检测 2 0 3例湖北地区汉族健康人群的IL 6基因 5 97G/A、 5 72C/G多态性和一般临床、生化指标。结果 :在湖北地区汉族人群中IL 6基因 5 97位点仅发现有GG基因型 ,未见GA和AA基因型 ; 5 72位点存在CC、CG、GG3种基因型 ,C和G等位基因频率分别为 0 .81,0 .19,基因型和等位基因分布均无性别差异。 5 72C/G基因型间年龄、性别、体重指数、血压、血糖、总胆固醇、甘油三酯、白细胞计数等水平均无差异 (P均 >0 .0 5 ) ,但G等位基因携带者血小板计数显著高于CC基因型人群 (188.2 3± 5 2 .5 6 )vs(181.30± 5 0 .10 ,P <0 .0 5 ;单位 :× 10 9·L-1)。湖北地区汉族人群IL 6基因 5 97G/A与 5 72C/G多态性分布与日本人群较为接近 (P >0 .0 5 ) ,但明显不同于欧美白种人 (P <0 .0 1)。结论 :IL 6基因 5 97G/A与 5 72C/G多态性分布存在种族差异 ,中国湖北地区汉族人群中可能不存在IL 6基因 5 97G/A多态性 , 5 72位点存在多态性 ,G等位基因为少见基因 ; 5 72G等位基因携带者外周血血小板计数较高 ,这在血栓性疾病的一级预防中具有一定的意义。     

IL27p28基因启动子区域-964A＞G位点多态性与中国汉族人群支气管哮喘的相关性

目的检测中国汉族人群IL-27p28基因启动子区域一个单核苷酸多态位点-964A＞G的多态性，探讨该位点多态性与中国汉族人群支气管哮喘易感性的关系。方法采用聚合酶链式反应—限制性片段长度多态性(PCR-RFLP）法检测360例哮喘患者和220例正常对照者IL-27p28基因启动子区域单核苷酸多态位点-964A＞G的基因型，计算基因型频率和等位基因频率，对比分析两组基因频率和基因型频率分布。结果IL-27p28基因启动子区域-964A＞G位点在中国汉族人群中具有多态性，其基因频率与基因型频率分布在病例组和对照组中均符合Hardy-Weinberg平衡，基因型AA、GA和GG的频率在病例组分别为0.4028、0.4205和0.1722，在对照组中分别为0.4318、0.4455和0.1227; 该位点的基因型频率及等位基因频率在病例组和对照组间的差异均无统计学意义(P=0.274)，提示该多态位点与中国汉族人群哮喘无显著相关性。结论IL-27p28基因启动子区域单核苷酸多态-964A＞G与中国汉族人群支气管哮喘易感性没有显著相关性。     

SLC11A1基因多态性在新发和复发肺结核患者中的分布

目的探讨SLC11A1基因多态性在中国汉族人群新发和复发肺结核患者中的分布。方法在中国汉族人群中,选择新发肺结核患者、复发肺结核患者和健康对照者各30例,应用SNaPshot SNP分型技术检测以上人群SLC11A1基因多态性位点INT4、D543N和3′UTR的基因型,采用Logistic回归分析和2χ检验进行统计学处理。结果病例组3′UTR位点TGTG /del基因型频率显著高于对照组(P=0.038),病例组与对照组INT4和D543N位点各基因型频率无显著性差异,病例组D543N和3′UTR位点联合分析显示GG/ del及GA/ del基因型频率均显著高于对照组(P=0.048和P=0.034)。新发肺结核患者与复发肺结核患者3′UTR和D543N/3′UTR基因型频率无显著性差异。结论SLC11A1基因3′UTR位点多态性和D543N/3′UTR单倍体型可能是中国汉族人群肺结核发病的易感因素,但与肺结核复发的关系有待进一步研究。     

珠海地区汉族人群IL-18基因启动子SNP与2型糖尿病的关系

目的 分析珠海地区汉族人群白细胞介素18(interleukin 18,IL-18)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与2型糖尿病(T2DM)的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析T2DM患者(病例组)和健康体检者(对照组)IL-18基因启动子区-137G/C与-607C/A 2个位点的多态性,比较两组人群基因型频率和等位基因频率.结果 (1)IL-18基因启动子区-607C/A位点3种基因型分别为CC型、AA型和A/C型,但基因型和等位基因频率在病例组与对照组之间分布差异无统计学意义(P＞0.05).(2)IL-18基因启动子-137G/C 3种基因型分别为GG型、CC型和G/C型,其基因型分布在病例组与对照组之间差异有统计学意义(P<0.05),病例组-137G等位基因频率高于对照组(2=5.439,P=0.020).等位基因频率的相对风险分析显示G等位基因的携带者患T2DM的风险是C等位基因携带者的2.38倍(OR=2.38,95%CI为1.149～4.938).结论 IL-18基因启动子区-137G/C可能与珠海地区汉族人群T2DM易感性有关,其中G等位基因可能是T2DM发病的危险因素之一.     

DAZL基因单核苷酸多态性与男性不育相关性研究

目的探讨常染色体DAZL基因单核苷酸多态性与男性不育的关系。方法采用聚合酶链式反应—限制性片段长度多态性（PCR-RFLP）法检测71例男性不育患者和200例正常对照者DAZL基因单核苷酸多态位点Rs2303591A〉G的基因型,计算基因型频率和等位基因频率,对比分析两组基因频率和基因型频率分布。结果Rs2303591A〉G位点在中国汉族人群中具有多态性,其基因频率与基因型频率分布在病例组和对照组中均符合Hardy-Weinberg平衡,基因型AA、GA和GG的频率在病例组分别为0.155、0.563和0.282,在对照组中分别为0.285、0.550和0.165,该位点的基因型频率在病例组和对照组间的差异均无统计学意义（P〉0.05）,而基因频率差异有统计学意义（P〈0.05）,提示该多态位点与中国汉族人群男性不育无显著相关性。结论DAZL基因Rs2303591A〉G与中国汉族人群男性不育易感性没有显著相关性。     

Effects of single nucleotide polymorphisms 869 T/C and 915 G/C in the exon 1 locus of transforming growth factor-β1 gene on chronic obstructive pulmonary disease susceptibility in Chinese

Background The main risk factor for chronic obstructive pulmonary disease （COPD） is cigarette smoking. However, only 10%-20% of chronic heavy smokers develop systematic COPD. We hypothesized that the inheritance of gene polymorphisms could influence the development of COPD, which was investigated by studying two single nucleotide polymorphisms （SNP） in exon 1 of the transforming growth factor-β1 （TGF-β1） gene. Methods We enrolled 219 patients with COPD as the research group and 148 healthy people as the control group, all of whom were Chinese Han people. The polymorphisms of the TGF-β1 gene, 869T/C and 915G/C, were analyzed using the method of amplification refractory mutation system-polymerase chain reaction （ARMS-PCR）. Results The occurrence of the TGF-β1 gene 869T/C polymorphism in patients with COPD was significantly different from the control group （P 〈0.05）, in which the relative risk of this disease increased in cases who had the C allele （OR： 1.131, 95% CI： 1.101-1.539）. There was no increased frequency of TGF-β1 915G/C gene in COPD patients compared with control subjects （P 〉0.05）. Conclusions The polymorphism 869T/C in TGF-β1 gene has a significant association with disease occurrence in COPD patients and the C allele might be a risk factor. The homozygous wild-type CC of 869T/C on TGFβ1 could be a predisposing factor in COPD and those who carry the C allele might have particularly susceptibility to developing COPD.     

内皮素受体B的基因多态性与COPD的相关性研究

目的探讨内皮素受体B（endothelin B receotor,EDNRB）基因的第4外显子-30 G／A处单核苷酸多态性与慢性阻塞性肺疾病（chronic obstructive pulmonary disease,COPD）易感性之间关系。方法采用PCR—RFLP技术,检测并分析EDNRB基因-30G／A（L277L）单核苷酸多态性位点在COPD组和健康对照组中的基因型频率、等位基因频率,同时分析该突变位点是否与COPD患者肺功能的下降程度相关。结果研究发现EDNRB基因-30G／A处基因型频率在COPD组和对照组之间的分布存在统计学差异（P〈0．05）,但等位基因频率的分布在两组之间无统计学差异存在（P〉0．05）。此外,COPD患者组中AA基因型组的最大呼气中段流速值（maximal mid—expiratory flow,MMEF）（0．51±0．44）明显小于GG基因型组（1．49±1．70）,且三组之间的差异存在统计学意义（P〈0．05）。结论EDNRB-30G〉A位点处的基因多态性可能与COPD的易感性相关,同时AA基因型与较低的MMEF值相关。     

Heat Shock Protein 70 Gene Polymorphisms in Han Nationality of China with Chronic Obstructive Pulmonary Diseases

Summary In order to investigate whether polymorphism in gene for heat shock protein 70 (HSP70) has any bearing on individual susceptibility to the development of chronic obstructive pulmonary disease (COPD), the geotypes of 88 patients with COPD and 87 healthy smoking control subjects were tested by polymerase chain reaction followed by restriction fragment polymorphism analysis for HSP70 gene. In COPD group, HSP70-1 genotype A/A, A/B and B/B was 59. 1%, 35.2% and 5.7%, HSP70-2 genotype A/A, A/B and B/B was 26.1%, 54.6% and 19.3%, and HSP70-hom genotype A/A, A/B and B/B was 70.4%, 27.3% and 2.3% respectively. In the control group, it was 60.9%, 27.5% and 3.5%, 20.7%, 56.3% and 23.0%, and 54.0%, 42.5% and 3.5%, respectively. The frequency of polymorphic genetypes showed no difference between the COPD group and the control group (P>0.05). It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China. XIE Jungang, male, born in 1970, M. D., Ph. D. This project was supported by grants from the National Key Technologies R & D Programme of the Tenth Five year Plan [2001 BA 703B03(B)] and the clinical intensive discipline of Ministry of Public Health ([2001]321).     

Surfactant protein B 1580 polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in chinese han population

Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population和was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) respectively.The results showed that there was significant difference in genotypes distribution frequency of SPB1580C/T polymorphism locus between COPD smokers and control smokers. C→T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9 % vs 41.7 %, X^2 =4.93, P＜0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1 ％) of SP-B1580-18A/C locus is lower than T allele (70.9 ％) in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85 % and 15 % respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-B-18A/C locus maybe varied with race.     

Genetic polymorphism in matrix metalloproteinase-9 and the susceptibility to chronic obstructive pulmonary disease in Han population of south China

Theincidenceofchronicobstructivepulmonarydisease(COPD)isincreasingnowandithasbecomeamajorpublichealthproblem ,especiallyforthosesmokers AlthoughthemechanismofCOPDisuncertain ,itisknownthatsmokingisthemajorcausalfactorofCOPD .However,only 1 0 %-2 0 %ofchronicheavycigarettesmokershaveairwayobstructionandrespiratorysymptoms,1　whichshowsthatCOPDisacomplexdiseaseinfluencedbygeneticfactors ,environment,andgenotype environmentinteractions 2 　GeneticfactorsofCOPDindicatethatdifferentgenotyp…     

中国南方汉族人MMP-9基因多态性与COPD易感性的关系

目的探讨中国南方汉族人基质金属蛋白酶-9(MMP-9)基因多态性与慢性阻塞性肺疾病(COPD)易感性的关系.方法应用限制性片段长度多态性(RFLP)技术,检测MMP-9启动子基因型在100例COPD患者和98例健康吸烟者中的频率.结果 COPD中同源野生型(C/C)、杂合型(C/T)频率分别是86%、14%,健康人的频率分别是98%、2%,两组基因频率分布差异具有显著性(P＜0.01).等位基因C频率分别是93%比99%,等位基因T频率分别是7%比1%,两组等位基因的分布差异也具有显著性(P＜0.05).结论 MMP-9启动子-1562位的多态性可能与中国南方汉族人群COPD易感性相关.     

DNMT3B基因启动子C46359T多态性与食管癌易感性的关联分析

目的:探讨DNMT3B基因启动子C46359T单核苷酸多态性与江苏汉族人群食管癌易感性的关系。方法:提取195例食管癌患者及189例健康体检人员外周血基因组DNA,采用PCR-RFLP结合DNA测序技术检测DNMT3B基因启动子C46359T单核苷酸多态性。结果:正常对照DNMT3B C46359T等位基因TT/CT基因型频率为98.9%/1.1%,病例组为97.9%/2.1%,在对照组与病例组中均未检测到DNMT3B 46359 CC基因型。携带DNMT3B 46359 CT等位基因的个体与对照组相比,其患食管癌的易感性未见明显升高(P=0.43,OR=1.96,95%CI:0.35~10.82)。对比江苏汉族人群和英国、美国白种人群,DNMT3B C46359T单核苷酸多态性频率分布有明显差异(P<0.01)。结论:DNMT3B基因C46359T多态性可能不适合作为中国汉族人群食管癌易感性的一个独立风险因素,此位点多态性的分布在不同人种间有显著差异。     

原发性高血压家系与血压正常家系ACE基因I/D突变及CYP11B2基因单核苷酸多态性的相关性研究

目的探讨原发性高血压家系与血压正常家系血管紧张素转换酶（ACE）基因插入/缺失位点及醛固酮合成酶（CYP11B2）基因C( 344)T位点单核苷酸多态性的关系。方法以家系为基础进行高血压家系-血压正常家系对照研究。高血压家系组：高血压家系62个,229例受试者;正常血压家系组：正常血压家系61个,221例受试者。采用PCR技术,分析ACE基因多态性;采用PCR RELP技术,分析CYP11B2基因多态性。基因型和等位基因频率用基因计数法。结果与正常家系组比较,高血压家系组第一、二代及三代受试者全体ACE基因DD基因型与D等位基因频率升高（P＜0.05）,高血压家系组各代及三代受试者全体CYP11B2基因TT基因型及T等位基因发生频率明显多于正常血压家系（P＜0.05）。与ACE基因I/D多态性协同作用中,高血压家系组的CYP11B2基因TT基因型及T等位基因发生频率明显多于正常血压家系（P＜0.05）。结论家族性原发性高血压与ACE基因I/D多态性及CYP11B2基因T（-344）C多态性之间具有相关性。D及T等位基因频率增高是原发性高血压患者家族中ACE基因I/D多态性及CYP11B2基因T（-344）C多态性的分布特点。D及T等位基因可能在家族性原发性高血压遗传中起协同作用。     

Association of gene polymorphisms of tumour necrosis factor-α and interleukin-13 with chronic obstructive pulmonary disease in Han nationality in Beijing

Background Genetic factors are believed to play a role in the individual susceptibility to chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism (SNP) of tumour necrosis factor-α (TNF-α)has been reported but inconsistent results may arise from different populations and phenotypes of COPD. There are only a few published studies of interleukin-13 (IL-13) SNPs on COPD. The SNPs of TNF-α and IL-13 have not been studied in the Chinese population. This research was conducted to study the frequencies of IL-13 gene promoter 1055 (IL-13-1055) and TNF-α gene-308 polymorphisms in the patients with COPD and to investigate the effect of those genetic polymorphisms on COPD in the Chinese population.Methods A cohort of COPD patients and age matched controls were recruited from an inpatient hospital service in Beijing. Venous blood was obtained and genomic DNA was extracted from peripheral blood monocytes using standard method. Genomic DNA was used as a template for amplification by polymerase chain reaction(PCR) to determine the polymorphism at -1055 in the length polymorphism (RFLP) was used to determine polymorphisms in the TNF-α gene-308 position. The products were investigated by sequence analysis also.Results One hundred and eleven COPD patients and 97 controls were studied. Seventy-five cases were current smokers in COPD patients and 36 were current smokers in controls. The frequencies of TT genotype in the IL-13 gene promoter region were 11.7% ( 13/111 ) in the COPD group and 13.4% (13/97) in the controls (P =0. 713). However, the OR value of TT genotype was significantly increased to 6.4 (95% CI 1.62 -25.39) in the smokers with COPD. TT genotype was also positively related to family history of COPD, OR =7. 7 (95% CI 1.37 -43.80). The frequencies of A allele in the TNF-α gene were 5.9% in COPD and 3. 1% in controls (P=0. 131 ). The OR value of A allele was 5.0 (95% CI 1.011 to 25. 059) in smokers with COPD.Conclusions There is no significant difference in the frequencies of the TT genotype of IL-13-1055 or the A allele of the TNF-α between Han Chinese patients with COPD versus control. Thus, it does not appear that these SNPs are independent factors in COPD for Han nationality in Beijing. However, these SNPs may increase the risk of COPD among smokers.     

白介素6基因多态性与慢性阻塞性肺疾病的相关性研究

目的探讨白细胞介素6（Interleukin-6,IL-6）基因0572C／G单核苷酸多态性与慢性阻塞性肺疾病（chronic obstructive pulmonary disease, COPD）易感性的关系。方法应用聚合酶链式反应-限制性片段长度多态性（PCR—RFLP）方法,检测192例COPD患者和195例健康体检者IL-6基因启动子区域-572C／G位点基因型分布情况,观察该位点基因多态性是否与COPD患者肺功能的程度存在相关。结果两组人群均存在IL-6基因-572C／G多态性;两组人群基因型、等位基因频率差异存在显著统计学意义,COPD组CG＋GG基因型、G等位基因频率均高于对照组（P〈0．01）;基因型频率的相对风险分析发现,CG、GG基因型各自患COPD的风险分别是CC基因型的2．09倍（95％CI：1．03—4．23）和5．44倍（95％CI：1．20～24．75）;-572C／G多态性在轻中度、重度COPD组间的分布差异无统计学意义（P〉0．05）。结论IL-6基因-572C／G多态性可能与COPD易感性相关,该位点携带G等位基因的人群可能更容易发生COPD。