血浆同型半胱氨酸水平 亚甲基四氢叶酸还原酶基因多态性与强直性脊柱炎的相关性研究

The association analysis of plasma Hcy level and MTHFR gene polymorphism with ankylosing spondylitis

目的探讨血浆同型半胱氨酸（Hcy）水平与强直性脊柱炎（AS）间的联系，分析AS患者MTHFR基因C677T突变的多态性，并探讨MTHFR基因多态性与AS的相关性。方法运用酶联免疫吸附试验（ELISA）测定100例AS患者及60名健康志愿者血浆Hcy浓度，应用多聚酶链反应一限制性内切酶片段长度多态性（PCR-RELP）分析MTHFR基因的多态性。结果AS患者血浆Hcy浓度明显高于对照组，两组间差异有统计学意义（P〈0．01）；AS组T/T型、C/T型、C／C型基因频率分布及T、C等位基因频率与对照组比较差异无统计学意义（P〉0．05）；AS组。T/T基因型突变的比例与对照组比较差异有统计学意义（P〈0．05）；AS组和对照组T/T型的血浆Hcy水平明显高于C/T型和C／C型（P〈0．01）。Logistic回归分析显示高Hcy血症是AS发病的独立危险因素（P〈0．01，OR=4．582，95％CI=1．984～10．585）。结论AS患者血浆Hcy浓度明显高于健康志愿者，高Hcy血症是AS发病的独立危险因素。MTHFR基因T/T型突变是血浆Hcy浓度升高的一个重要影响机制，MTHFR基因T/T型突变可能与AS的发生有相关性。

Objective To investigate the relationship between plasma homocysteine （Hcy） level and ankylosing spondylitis （AS）. To analyze the association between the N5, N10 methylenetetrahydrofolate reductase （MTFHR） gene polymorphism and AS. Methods One hundred patients with AS and 60 healthy controls were included in the study. The plasma Hcy level was examined by enzyme-linked immnnoadsnrbent assay and MTHFR gene polymorphism was analyzed by the polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP）. Results Compared with healthy controls, the plasma Hcy level in AS patients was significantly higher than that of the controls （P〈0.01）. There was no significant difference in the frequen-cies of MTHFR genotype and alleles between AS and the controls （P〉0.05）, But the ratio of T/T genotype mutation was different between AS and the controls （P〈0.05）. The plasma Hcy level of T/T genotype was significantly higher than that of C/T or C/C genotype in AS and the controls （P〈0.01）. Logisticalregression analysis indicated that Hcy was an independent risk factor for AS （P〈0.01, 0R=4.582, 95%CI= 1.984-10.585）. Conclusion The plasma homocysteine level is significantly increased in AS patients. Hyperhomo-cysteinemia is an independent risk factor for AS. MTHFR T/T genotype mutation is an important mechanism of hyperhomocysteinemia and may be related with AS.