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Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study.
Folia Neuropathologica ( IF 2 ) Pub Date : 2019-05-01 , DOI: 10.5114/fn.2019.83829
Suat Cakina , Ozgul Ocak , Adile Ozkan , Selma Yucel , Handan Isın Ozısık Karaman

Recent studies have reported elevated plasma homocysteine and reduced folate and vitamin B levels in patients with multiple sclerosis (MS). In this study, we aimed to investigate the association between MS and the following four DNA polymorphisms: MTR A[2756]G, MTHFR C[677]T, MTHFR A[1298]C and MTRR A[66]G. The DNA polymorphisms were genotyped in 80 patients with confirmed MS and 80 healthy control age- and gender-matched subjects using PCR-RFLP approach. Our results show that the frequency of the T/T genotype homozygotes for the MTHFR C[677]T polymorphism was significantly higher in patients than in controls (p = 0.04, OR: 3.16, 95% CI: 1.23-8.17). In turn, the A/A genotype of the MTHFR A[1298]C polymorphism was more frequent in controls than in patients (41.3% vs. 32.5%, p = 0.04). There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease.

中文翻译:

遗传多态性MTHFR(C677T,A1298C),MTR(A2756G)和MTRR(A66G)基因与多发性硬化之间的关系:病例对照研究。

最近的研究报道,多发性硬化症(MS)患者血浆高半胱氨酸水平升高,叶酸和维生素B水平降低。在这项研究中,我们旨在研究MS与以下四个DNA多态性之间的关联:MTR A [2756] G,MTHFR C [677] T,MTHFR A [1298] C和MTRR A [66] G。使用PCR-RFLP方法对80例确诊MS患者和80例健康对照年龄和性别匹配的受试者进行DNA多态性基因分型。我们的结果表明,患者中MTHFR C [677] T多态性的T / T基因型纯合子频率显着高于对照组(p = 0.04,OR:3.16,95%CI:1.23-8.17)。反过来,MTHFR A [1298] C多态性的A / A基因型在对照组中比在患者中更为常见(41.3%对32.5%,p = 0.04)。MS患者和对照组之间MTR A [66] G和MTR A [2756] C多态性的基因型分布没有差异(p> 0.05)。我们的研究结果表明,MTHFR C [677] T和MTHFR A [1298] C基因多态性可能与MS相关,因为遗传因素影响该疾病的风险。
更新日期:2019-11-01
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