TGF-β1基因C1348-T位点与膝骨关节炎的关系

Relationship of C1348-t locus of transforming growth factor-beta 1 gene and knee osteoarthritis

目的检测其基因多态性与膝部位骨关节炎(OA)的关系,进一步评估相关易感基因与OA的关联。方法本研究采用现况调查的方法,通过标准化的OA健康状况问卷内容、骨关节部位放射线检查方案及相关的体格检查,对黑龙江省城市中老年人群OA的患病情况进行流行病学调查,对具有原发OA症状并有放射线改变证据的骨性关节炎患者及无任何部位OA的对照组进行以人群为基础的病例对照研究,采用PCR-RFLP方法对相关易感基因的基因型进行测定,检测其基因多态性与膝部位OA的关系。结果由于部分血液标本破坏以及部分位点未通过引物扩增成功,最后纳入本研究的对象共计599人。根据研究对象的临床症状和影像学Kellgren/Iawrence(K/L评分)标准,共纳入了111例膝关节炎患者,236例非OA患者作为对照。膝OA调整后的OR值分别为1.79(0.93,3.45)。TT基因型只与膝部OA的发病风险有显著性关联,粗OR值为1.39(0.65,2.96),调整后OR为0.94(0.39,2.27)。CT+TT基因型可以显著增加膝OA的发病风险,其调整后的OR值分别为2.01(1.11,3.64)和2.73(1.25,5.94)。结论 TGF-β1 C1348-T可以显著增加膝OA的发病风险,即C1348-T与膝OA的发生有显著性相关。

Objective To investigate the relationship between gene polymorphism and knee osteoarthritis（ OA）,and evaluate the association of the susceptibility genes with osteoarthritis. Methods This study adopted the method of survey. Through standardized osteoarthritis health questionnaire,radiographic inspection for joints and related physical examination,the prevalence of OA in the urban elderly population was epidemiologically investigated in Heilongjiang province. The patients with primary OA symptoms and radiographic evidences（ OA group） and the control group with no OA were analysed in a population-based case-control study. The susceptibility genes related to genotypes were determined by polymerase chain reaction-restriction fragment length polumorphism（ PCR-RFLP）,and the relationship between human gene polymorphisms with knee osteoarthritis was detected. Results Due to the destruction of part of the blood samples and part of the site failed primer amplification,this study included a total of599 people in the end. According to the clinical symptoms and imaging Kellgren / Iawrence（ K / L） score of the patients,a total of 111 cases with knee OA,and 236 cases of non-OA controls were included. the adjusted OR values of the knee osteoarthritis group was 1. 79（ 0. 93,3. 45）. TT genotype significantly associated with the risk of knee OA; the value of crude OR was 1. 39（ 0. 65,2. 96）,and the value of OR was 0. 94（ 0. 39,2. 27） after adjustment. CT ＋ TT genotypes could significantly increase the risk of knee osteoarthritis; the adjusted OR values were 2. 01（ 1. 11,3. 64） and 2. 73（ 1. 25,5. 94）. Conclusion TGF beta 1 C1348-T can significantly increase the risk of knee OA,which means C1348-T has significant correlation with the incidence of knee OA.