MTHFR基因C677T位点多态性与风湿性疾病的相关性  

The study of the relationship of MTHFR polymorphisms with rheumatoid diseases

作　　者：徐晓[1] 王美美[1] 肖传实[2] 

机构地区：[1]东南大学附属中大医院风湿免疫科,江苏南京210009 [2]山西医科大学第二医院心脏科,山西太原030001

出　　处：《东南大学学报（医学版）》2007年第1期38-41,共4页Journal of Southeast University(Medical Science Edition)

摘　　要：目的:检测多种风湿性疾病患者亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性,探讨其与血浆同型半胱氨酸(Hcy)、叶酸、V itB12及其疾病的关系。方法:测定54例系统性红斑狼疮(SLE)、48例类风湿关节炎(RA)、60例强直性脊柱炎(AS)、30例未分化脊柱关节病(uSpA)患者和62例正常对照者的Hcy、V itB12、叶酸的水平,采用聚合酶链反应限制性片段长度多态性技术检测MTHFR基因677位的多态性。结果:(1)各疾病组CC基因型频率显著低于正常对照组,总的突变T等位基因频率显著高于对照组。(2)MTHFR基因677位C→T的突变使Hcy水平升高[CC型,(13.41±5.78)μmol.L-1;CT型,(16.81±4.22)μmol.L-1;TT型(20.88±6.60)μmol.L-1,P<0.001]。(3)TT基因型是高Hcy血症的易感基因,OR=84.46,P<0.05;同时还是SLE的易感基因,OR=7.56,P<0.05。结论:(1)SLE、RA、AS、uSpA 4种疾病患者普遍存在MTHFR基因C677T位突变和高Hcy血症。(2)TT型基因不仅是Hcy异常升高的易感基因,也是SLE的易感基因。Objective To assess the relationship of methylene tetrahydrofolate reductase （MTHFR） C677T genotypes to some rheumatoid diseases. Methods 54 cases with SLE ,48 cases with RA ,60 cases with AS ,30 cases with uSpA and 62 controls were recruited into the study. Plasma Hcy, vitamin B12 ,folate were measured in all patients and controls. MTHFR gene C677T polymorphisms were detected by the technique of polymerase chain reaction-restriction fragment length polymorphism（PCR-RELP）. Results （ 1 ） CC genotype in each patient group was significantly lower than that in control group, the total mutant T allele frequency was significantly higher than that in control group. （ 2 ） The MTHFR gene mutation increased Hcy level dramatically[ in CC, CT and TT genotype being（ 13.41 ± 5.78 ）, （ 16.81±4. 22 ）, （20.88 ±6.60 ） μmol·L^-1, respectively, P 〈 0. 05 ）. （ 3 ） TT genotype was susceptible to hyperhomocysteinemia and SLE（ OR = 56.47,6.93 ; P 〈 0. 05 ）. Conclusions （ 1 ） MTHFR C677T gene mutation and hyperhomocysteinemia are found in most SLE, RA, AS and USPA patients. （2） TT genotype of MTHFR is susceptible to hyperhomocysteinemia and SLE.

关 键 词：亚甲基四氢叶酸还原酶 同型半胱氨酸 风湿性疾病 基因突变 

分 类 号：R593.2[医药卫生—内科学]