摘要
目的探讨淮海经济区汉族人群维生素D水平及其受体（VDR）基因多态性与类风湿关节炎（RA）的关系。方法收集该地区无血缘关系的120例RA患者（RA组）和120名健康人（对照组）的全血标本，采用聚合酶链反应和限制性内切酶法（PCR．RVLP）研究VDR的BsmI、ApaI等位基因多态性与类风湿关节炎发病之间的关系，采用电化学发光法检测血清中维生素D含量，研究其与RA发病的关系。使用矿检验和t检验进行统计学分析。结果RA组与对照组之间Ap。I酶切位点AA、Aa,aa基因频率的差异有统计学意义（X2=23．85，4．34，43．2，P值均〈0．05），BsmI酶切位点BB、Bb、bb基因频率的差异无统计学意义（P值均〉O．05）。进一步分析VDR基因型与RA患者的性别及有无骨侵蚀的关系，发现VDR各基因型频率差异无统计学意义（P值均〉0．05）。RA组维生素D水平显著低于对照组[（2．8±0.3）与（4．0±0．4）ng／m1]，RA患者中骨侵蚀组维生素D水平显著低于无骨侵蚀组[（1．8±0．3）与（3．1±0．4）ng／m]]，差异均有统计学意义（F=193．26，41．96，P值均〈0．05）。但RA患者中男性患者组与女性患者组之间维生素D水平相当[（2．6±0.3）与（2．7±0．4）ng／m1]，差异无统计学意义（P〉0．05）。结论VDR基因多态性ApaI与淮海经济区汉族人群RA发病是显著相关联的，基因型AA、Aa的出现可能增加RA的易患性，基因型aa可能为RA的保护型基因，同时VDR各基因型与RA患者性别及是否存在骨侵蚀无相关性；血清维生素D水平下降与RA的发病及骨侵蚀的发生是显著相关的，与RA患者的性别无相关性。
Objective To investigate the correlation between vitamin D, vitamin D receptor （VDR） polymorphism and rheumatoid arthritis （RA） in Huai-hai local Han population. Methods VDR genotypes were determined by PCR-RFLP and the serum levels of vitamin D were determined by ECLTA in 120 unrel- ated RA patients as well as 120 unrelated healthy controls. Statistical analysis was carried out by using t test andA,a test. Results AA and Aa genotypes were found to be more frequent in RA patients （P〈0.05）. The aa genotype was significantly lower in RA patients （P〈0.05） when compared to other groups. There were no signi- ficant differences in genotypes of BB, Bb and bb between patients with RA and healthy controls （P〉0.05）. How- ever, no significant correlation was identified between VDR polymorphism and sex, bone erosion. Serum levels of vitamin D in patients with RA were significantly lower than those in healthy controls I （2,8±0.3） ng/ml vs （4.0±0.4） ng/ml, P〈0.05]. Serum levels of vitamin D were significantly decreased in patients with bone erosion （P〈 0.05）. No significant correlation was identified between serum levels of vitamin D and gender [（2.6±0.3） vs （2.7M）.4） ng/ml, P〉0.05]. Conclusion AA and Aa genotypes of VDR polymorphism at Apa I in thepresent study are likely to be predisposing genes for RA in Huai-hai local Han population, while aa genotype is likely to be a protective gene. Serum level of vitamin may be correlated to RA and bone erosion.
出处
《中华风湿病学杂志》
CAS
CSCD
北大核心
2013年第3期164-168,共5页
Chinese Journal of Rheumatology
基金
江苏省中医药管理局资助项目（LZ11100）
关键词
关节炎
类风湿
受体
骨化三醇
多态性
单核苷酸
骨侵蚀
Arthritis, rheumatoid
Receptor, calcitriol
Polymorphism, single nucleotide
Bone
