中文摘要：

背景：国内外已有部分研究发现转化生长因子β1及白细胞介素1β在原发性骨关节炎的发生发展中起到重要的调节作用。目的：分析转化生长因子β与白细胞介素1β基因中各基因型及等位基因频率与原发性膝骨性关节炎的相关性。方法：利用现况调查的基本方法,对新疆地区汉族、维吾尔族中老年人群骨关节炎的患病情况进行流行病学调查,根据患者的症状及放射线改变的证据筛选出患有骨关节炎的患者（骨关节炎组）及健康体检人群（对照组）。采用聚合酶链式反应技术,检测受试者的转化生长因子β1-509C/T位点、-1348C/T位点以及白细胞介素1β-511C/T位点的基因型,分析转化生长因子β1、白细胞介素1β的基因多态性与骨关节炎的关系。结果与结论：（1）在对照组及骨关节炎组转化生长因子β1-509C/T、-1348C/T位点以及白细胞介素1β-511C/T位点均检测出T、C2种等位基因,其有3种组合基因型：TT型、CT型、CC型;（2）在维吾尔族中转化生长因子β1-509C/T位点及白细胞介素1β-511C/T位点骨关节炎组与对照组之间的基因型频率差异有显著性意义（P〈0.05）;（3）汉族中转化生长因子β1-1348C/T位点的骨关节炎组与对照组之间的基因型频率差异有显著性意义（P〈0.05）;（4）结果说明,转化生长因子β1-509C/T位点及白细胞介素1β-511C/T位点的TT基因型是维吾尔族关节炎易感基因,转化生长因子β1-1348C/T位点的TT基因型是汉族关节炎易感基因。

英文摘要：

BACKGROUND： Transforming growth factor β1 （TGF-β1） and intedeukinβ1 （IL-1β） have been reported to play an important role in the occurrence and development of primary osteoarthritis. OBJECTIVE： To investigate the association between gene polymorphisms of TGF-1β and IL-1β and primary knee osteoarthritis. METHODS： Han and Uyghur elderly populations in Xinjiang Uygur Autonomous Region, China were surveyed on the prevalence of osteoarthritis, followed by allotted to osteoarthrltis and health groups according the symptoms and radiography. Genotyping TGF-1β -509C/T and -1348C/T and IL-1β -511C/T was performed to analyze the relationship between the gene polymorphisms of TGF-181 and IL-1β and osteoarthritis. RESULTS AND CONCLUSION： Alleles T and C with genotypes CC, CT and TT were detected in both two groups. In the Uygur population, the genotype frequency of TGF-IB1-509C/T and IL-113-511C/T showed significant difference between osteoarthritis and health groups （P 〈 0.05）. In the Han population, the genotype frequency of TGF-β1-1348C/T showed significant difference between two groups （P 〈 0.05）. These results suggest that the Uygur individuals carrying TT genotype of TGF-β1-509CfT and IL-1β-511C/T, and Han people carrying the TT genotype of TGF-β -1348T are more susceptible to osteoarthritis.