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维生素 D 受体多态性与土耳其人群多发性硬化症的关联。

The association between vitamin D receptor polymorphisms and multiple sclerosis in a Turkish population.

机构信息

Inonu University, School of Medicine, Department of Neurology, Malatya, Turkey.

Inonu University, Department of Molecular Biology and Genetics, Malatya, Turkey.

出版信息

Mult Scler Relat Disord. 2018 Feb;20:78-81. doi: 10.1016/j.msard.2018.01.002. Epub 2018 Jan 9.

DOI:10.1016/j.msard.2018.01.002
PMID:29331875
Abstract

BACKGROUND

Multiple sclerosis (MS) is a chronic, demyelinating disease of the central nervous system (CNS). Genetic and environmental factors are important in disease development. Many studies have investigated the relationship between MS and VDR polymorphisms. VDR gene polymorphism has not been previously studied in Turkish MS patients. We aimed to investigate the relationship between MS and VDR genotypes Taq I, Apa I and Fok I polymorphisms in a Turkish population.

METHODS

167 MS patients and 146 healthy control subjects were included in the present study. MS and the VDR TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) polymorphisms were investigated.

RESULTS

The study enrolled 167 patients (121 females, 46 males) with MS and 146 healthy individuals (88 females, 58 males). The frequency of only the Fok I polymorphism differed significantly between the two groups (p = 0.002). The TaqI (rs731236) and ApaI (rs7975232) genotype distributions were not significantly different between MS patients and healthy controls (p = 0.626 and p = 0.990, respectively). Also there were no significant gender difference between patients and controls for Taq I and Apa I.

CONCLUSION

In conclusion, we found a significant association between MS and the FokI polymorphism in our region of Turkey. However, the results may be different in other populations. More epidemiological and genetic studies are needed to explain the association between genetic factors and MS.

摘要

背景

多发性硬化症(MS)是一种中枢神经系统(CNS)的慢性脱髓鞘疾病。遗传和环境因素在疾病发展中起着重要作用。许多研究已经调查了 MS 与 VDR 多态性之间的关系。VDR 基因多态性在土耳其 MS 患者中尚未得到研究。我们旨在研究土耳其人群中 MS 与 VDR 基因型 Taq I、Apa I 和 Fok I 多态性之间的关系。

方法

本研究纳入了 167 例 MS 患者和 146 例健康对照者。研究了 MS 与 VDR TaqI(rs731236)、ApaI(rs7975232)和 FokI(rs2228570)多态性。

结果

本研究共纳入 167 例 MS 患者(121 例女性,46 例男性)和 146 例健康个体(88 例女性,58 例男性)。两组间仅 Fok I 多态性的频率差异有统计学意义(p = 0.002)。MS 患者与健康对照组之间 TaqI(rs731236)和 ApaI(rs7975232)基因型分布无显著差异(p = 0.626 和 p = 0.990)。Taq I 和 Apa I 在患者和对照组之间也没有显著的性别差异。

结论

总之,我们在土耳其的研究区域发现了 MS 与 FokI 多态性之间的显著关联。然而,在其他人群中,结果可能有所不同。需要更多的流行病学和遗传学研究来解释遗传因素与 MS 之间的关联。

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