白细胞介素1B和1RN基因多态性与骨关节炎易感性的关系

目的在中国青岛地区膝骨性关节炎患者中，探讨白细胞介素-1B(-31C/T、-511C/T、＋3954C/T)及其拮抗基因IL-1RN基因多态性与骨关节炎易感性的关系。 方法采用病例对照研究，对就诊青岛市胶州中心医院经临床诊断为膝关节骨关节炎的216例患者和233例年龄、性别匹配的健康对照者，排除既往有膝关节外伤史、类风湿性关节炎及合并其他内科疾病的患者，以聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法检测IL-1B的－31C/T、－511C/T、＋3954 C/T位点及IL-1RN的多态性，采用logistic回归分析方法比较不同基因型与骨关节炎发病风险的关系。 结果骨关节炎组中IL-1B-511CT、IL-1B＋3954CT基因型频率明显高于对照组，与对照组差异有统计学意义(IL-1B-511CT χ²＝2.034，P＝0.026；IL-1B＋3954CT χ²＝5.526，P＝0.017)，IL-1B＋3954C/T位点未发现TT基因型，通过logistic回归分析，结果显示与野生型的纯合子相比，杂合子-511CT、＋3954CT基因型与骨性关节炎高风险发病率具有相关性[IL-1B-511CT，OR＝1.89，95%CI(0.56，1.39)，P＝0.026；IL-1B＋3954CT，OR＝2.51，95%CI(1.18，5.35)，P＝0.017]。骨关节炎组和对照组在IL-1B-31C/T位点及IL-1RN基因型分布未见明显差异。 结论IL-1B-511TC、＋3954CT基因型人群可能增加对膝骨关节炎的易感性，而IL-1B-31C/T, IL-1RN*2基因多态性可能与膝骨关节炎遗传易感性不具相关性。

Association between genetic polymorphisms of interleukin-1 B and interleukin-1 receptor antagonist genes and susceptibility to osteoarthritis

ObjectiveTo investigate the association between genetic polymorphisms of interleukin -1 B (-31C/T、-511C/T、+ 3954C/T) and interleukin -1 receptor antagonist (IL-1ra)(gene code: IL-1RN) and susceptibility to knee osteoarthritis patients from Qingdao area of China. MethodsA case-control study was conducted in 216 knee osteoarthritis patients from Jiaozhou Central Hospital of Qingdao; previous knee trauma, rheumatoid arthritis and other medical diseases were excluded and 233 healthy controls were matched in age and sex. The single nucleotide polymerphisms (SNPs) at positions IL-1B-31C/T、-511C/T、+ 3954C/T and IL-1RN were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and association between genotypes and risk of osteoarthritis were determined by logistic regression analysis. ResultsAn increased frequency of IL-1B -511CT and IL-1B + 3954CT genotypes was noted in osteoarthritis patients and the difference was statistically significant compared with the control group [IL-1B-511CT χ²=2.034, P=0.026; IL-1B+ 3954CT χ²=5.526, P=0.017). No IL-1B + 3954TT genotype was found in this study. In a logistic regression analysis, IL-1B -511CT and IL-1B + 3954CT genotypes were associated with an odds ratio for osteoarthritis [IL-1B-511CT, OR=1.89, 95%CI(0.56, 1.39), P=0.026; IL-1B+ 3954CT, OR =2.51, 95%CI (1.18, 5.35), P=0.017]. No significant difference was found in the allelic or genotypic frequencies of IL-1B-31C/T or IL-1 RN between the osteoarthritis patients and the controls. ConclusionIL-1B-511CT and + 3954CT genotypes may associate with an increased risk of knee osteoarthritis, while there is no association between genetic polymorphisms of IL-1B-31C/T and IL-1 RN*2 and susceptibility to knee osteoarthritis.