核因子-κB受体激活因子配体基因多态性与类风湿关节炎易感性的研究

Association study of RANKL rs7984870 polymorphism and risk of rheumatoid arthritis

目的 研究中国汉族人群中核因子-κB受体激活因子配体（receptor activator of NF-κB ligand,RANKL） rs7984870基因多态性与类风湿关节炎（RA）发生危险因素关系.方法 采用以医院为基础的病例-对照研究,基质辅助激光解吸电离飞行时间质谱（ matrix-assisted laser desorption/ionization time-of-flight mass spectrometry,MALDI-TOF MS）技术分析214例RA患者和478例对照RANKLrs7984870 C＞G基因多态性,计算各种基因型的RA发生风险及其95%可信区间.结果 RANKL rs7984870 C＞G基因3种基因型CC、CG和GG在RA组和对照组的频率分别为27.3% （CC）、51.2% （CG）、21.5% （GG）和25.3% （CC）、49.1% （CG）、25.7% （GG）,Logistic回归发现与携带RANKL rs7984870 CC基因型的个体相比较,携带RANKL rs7984870 GG等位基因型与RA的发病风险无明显相关（OR=0.78,95% CI=0.49 ～ 1.24）.结论 RANKL rs7984870基因多态性可能不是RA发生的危险因素,需要进一步研究证实.

Objective To elucidate the association between RANKL rs7984870 C 〉G polymorphism and the susceptibility to rheumatoid arthritis in a Chinese Han population.Methods Genotypes were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF MS） method in 214 rheumatoid arthritis cases and 478 controls.Results The RANKL rs7984870 C〉G genotype frequencies were 27.3% （ CC）,51.2% （ CG）,21.5% （GG） in the rheumatoid arthritis group and 25.3% （CC）,49.1% （CG）,25.7% （GG） in the control group respectively; Logistic regression analyses revealed that the risk associated with RANKL rs7984870 C〉G variant genotype was 0.78 （95% CI =0.49-1.24） for RANKL rs7984870 GG compared with its wild-type homozygote.Conclusion RANKL rs7984870 polymorphism may not serve as a risk factor of rheumatoid arthritis susceptibility.Further functional studies are warranted to verify our findings.