土耳其人群中维生素D受体多态性与多发性硬化症相关

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
B Bulan, A Y Hoscan, S N Keskin, A Cavus, E A Culcu, N Isik, E O List, A Arman
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引用次数: 1

摘要

多发性硬化症(MS)是一种以脱髓鞘和轴突变性影响中枢神经系统为特征的炎症性疾病。与此病相关的遗传因素包括维生素D受体(VDR)基因的多态性。我们检验了维生素D受体(VDR)基因多态性与MS相关的假设。本研究的目的是调查土耳其人群中VDR基因fk - 1、bsm - 1和taq - 1多态性与MS的关系。本研究纳入271例多发性硬化症患者和203例健康对照。从样品中分离基因组DNA,采用聚合酶链反应(PCR)扩增VDR基因fk - 1、bsm - 1和taq - 1多态性区。对PCR产物进行酶切,根据酶切产物的大小确定基因型。结果表明,MS与VDR基因fk - 1 T/T多态性基因型分布、VDR基因fk - 1 T等位基因频率分布、VDR基因taq - 1 C/C多态性基因型分布、VDR基因taq - 1 C等位基因频率(Pearson检验,p0.05)或等位基因频率(Pearson检验,p>0.05)存在相关性。在土耳其人群中,fk - 1和taq - 1 VDR基因多态性在显性、纯合子和杂合子遗传模式中与MS显著相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis.

Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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