CD58多态性与马来西亚多发性硬化症的关联:一项初步研究。

Q1 Medicine
Auto-Immunity Highlights Pub Date : 2019-12-17 eCollection Date: 2019-12-01 DOI:10.1186/s13317-019-0123-7
Yee Ming Ching, Shanthi Viswanathan, Nurhanani Mohamed Nor, Shuwahida Shuib, Balqis Kamarudin, Salawati Mansor, Ainur Yusniza Yusof, Masita Arip
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引用次数: 1

摘要

背景:多发性硬化症是一种以中枢神经系统为靶点的免疫介导疾病。非人类白细胞抗原基因CD58与多发性硬化症的关联在一些人群中有报道,但在东南亚人群中尚不清楚。本初步研究旨在探讨CD58多态性与马来西亚马来人多发性硬化症之间的关系。方法:采集27例多发性硬化症患者的血液样本,并与58例年龄和性别匹配的健康人进行比较。所有患者抗水通道蛋白4检测均为阴性。从血中提取DNA,采用实时荧光定量PCR对CD58基因rs12044852、rs2300747和rs1335532三个单核苷酸多态性进行分型。结果:多发性硬化症患者以女性为主(85.2%)。一般平均发病年龄为30.5岁。基因分型结果显示,MS患者和健康个体的等位基因频率在40 - 50%之间。多发性硬化与CD58基因多态性等位基因rs12044852 (p = 0.410)、rs2300747 (p = 0.881)和rs1335532 (p = 0.407)之间的关联(等位基因模型)不明显。结论:CD58基因多态性对本次中试研究的影响不明显,提示不同人群中导致多发性硬化的基因组成可能存在差异,从而导致疾病表现和分布的异质性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association of CD58 polymorphism and multiple sclerosis in Malaysia: a pilot study.

Background: Multiple sclerosis is an immune mediated disease targeting the central nervous system. Association of non-human leukocyte antigen gene, CD58, with multiple sclerosis has been reported in several populations but is unclear among Southeast Asians. This pilot study was conducted to explore the association between CD58 polymorphism and multiple sclerosis among the Malay population in Malaysia.

Methods: Blood samples were collected from 27 multiple sclerosis patients, and compared with 58 age- and gender matched healthy individuals. All patients were tested negative for anti-aquaporin 4. DNA was extracted from the blood and genotyped for 3 single nucleotide polymorphisms rs12044852, rs2300747 and rs1335532 of gene CD58 by real-time PCR.

Results: The majority of multiple sclerosis patients were female (85.2%). The general mean age of onset was 30.5 years. Genotyping results showed that frequencies of the alleles were between 40 and 50% for MS patients and healthy individuals. Association (allelic model) between multiple sclerosis and CD58 gene polymorphism alleles rs12044852 (p = 0.410), rs2300747 (p = 0.881) and rs1335532 (p = 0.407) were indistinct.

Conclusions: The impact of the CD58 gene polymorphism was not prominent in this pilot study, implying that genetic composition contributing to multiple sclerosis may be different between different populations, thus results in a heterogeneity of disease manifestation and distribution.

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