摘要目的 分析Ⅸ型胶原蛋白A2(COL9A2)基因的单核苷酸多态性(SNP),用调查表对椎间盘退变性疾病(DDD)可能的危险因素(劳动强度、吸烟史、同类疾病家族史等),探讨COL9A2基因与环境因素对中国汉族人DDD发病的相关性,并评价其与椎间盘退变严重程度的相关性.方法 200例中国汉族DDD患者与80例对照组.所有研究对象均行腰椎磁共振成像(MRI)检查,提取全部研究对象的外周血DNA,采用病例-对照研究方法,对COL9A2基因在326位的氨基酸位置处的两个突变位点SNP1(rs7533552)和SNP2(rs2077871)进行基因检测.结合腰椎间盘退变危险因素的调查表,观察家族史、吸烟、劳动强度和与腰椎间盘退变的相关性.结果 吸烟、劳动强度、DDD的家族史,与DDD相关.病例组中,rs2077871(SNP2)的TT和CT基因型频率显著高于对照组.其中TT在病例组的携带率(15/200,15.0％),显著高于对照组(1/80,1.3％),两组比较差异有统计学意义[比值比(OR)=0.982,P=0.001].进一步对候选基因与不同的椎间盘退变程度进行关联分析中,rs2077871(SNP2)的TT基因型频率与椎间盘退变程度明显相关.结论 DDD与环境因素(如劳动强度、吸烟等)以及阳性家族史均明显相关;以COL9A2基因为候选基因,发现其rs2077871的基因多态性与椎间盘退变性疾病明显相关;程度严重的椎间盘退变与候选基因多态性明显相关,高于程度较低的退变.

abstractsObjective To investigate the association between COL9A2 gene polymorphism and environmental factors in occurrence and severity of degenerative disc disease (DDD) in a china human population,by analyzing COL9A2 gene polymorphism,and potential environmental factors (labour intensity,smoking history,family history,etal) by questionnaire.Methods Method A total of 200 DDD patients and80 controls finished lumbar spine MRI,were recruited in the case-control study,whose peripheral blood were collected for DNA Isolation.Corresponding single nucleotide polymorphisms (snp)-SNP1 (rs7533552) and SNP2 (rs2077871) of mutations in the COL9A2 genes,resulting in a Gln326 Trp substitution were identified.Genotying of all selected SNP's was done by SNPstream technology.Then case group were classifled into different groups,according to Severity of degeneration,labour intensity and smoking.The association analysis between DDD and environmental factors (labour intensity,smoking history,family history)were conducted according to the questionnaire.Results Smoking history,labour intensity,Positive family history were associated with DDD.Genotype frequencies of SNP2 TT and CT in case group were higher than those of control group.Furthermore,gentype frequencies of TT in cases (15/ 200,15.0％) were statistical different between those (1/80,1.3％) in contral group (OR =0.982,P =0.001).Beside that,we did see association with TT genotype frequencies of of SNP2 and Severity of disc degeneration.Conclusion DDD is associated i with environmental risk factors (labour intensity and smoking history),family history and polymorphism of rs2077871 inCOL9A2 gene.There was an association with genotype frequencies of of susceptibility genes and Severity of disc degeneration.