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马来西亚多态性与多发性硬化症的关联:一项试点研究。

Association of polymorphism and multiple sclerosis in Malaysia: a pilot study.

作者信息

Ching Yee Ming, Viswanathan Shanthi, Mohamed Nor Nurhanani, Shuib Shuwahida, Kamarudin Balqis, Mansor Salawati, Yusof Ainur Yusniza, Arip Masita

机构信息

Autoimmune Unit, Allergy and Immunology Research Centre, Institute for Medical Research, National Institute of Health, Selangor, Malaysia.

2Neurology Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.

出版信息

Auto Immun Highlights. 2019 Dec 17;10(1):13. doi: 10.1186/s13317-019-0123-7. eCollection 2019 Dec.

Abstract

BACKGROUND

Multiple sclerosis is an immune mediated disease targeting the central nervous system. Association of non-human leukocyte antigen gene, , 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 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 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 gene polymorphism alleles rs12044852 (p = 0.410), rs2300747 (p = 0.881) and rs1335532 (p = 0.407) were indistinct.

CONCLUSIONS

The impact of the 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.

摘要

背景

多发性硬化症是一种针对中枢神经系统的免疫介导疾病。在多个群体中已报道非人类白细胞抗原基因与多发性硬化症有关联,但在东南亚人群中尚不清楚。本试点研究旨在探讨马来西亚马来人群中该基因多态性与多发性硬化症之间的关联。

方法

采集27例多发性硬化症患者的血样,并与58例年龄和性别匹配的健康个体进行比较。所有患者抗水通道蛋白4检测均为阴性。从血液中提取DNA,并通过实时聚合酶链反应对该基因的3个单核苷酸多态性rs12044852、rs2300747和rs1335532进行基因分型。

结果

大多数多发性硬化症患者为女性(85.2%)。总体平均发病年龄为30.5岁。基因分型结果显示,多发性硬化症患者和健康个体的等位基因频率在40%至50%之间。多发性硬化症与该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

在本试点研究中,该基因多态性的影响不显著,这意味着不同人群中导致多发性硬化症的遗传组成可能不同,从而导致疾病表现和分布的异质性。

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