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新型免疫调节性类Fc受体5基因的变异与波兰人群的多发性硬化易感性相关。

Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population.

作者信息

Chorazy Monika, Wawrusiewicz-Kurylonek Natalia, Adamska-Patruno Edyta, Czarnowska Agata, Zajkowska Olga, Kapica-Topczewska Katarzyna, Posmyk Renata, Kretowski Adam Jacek, Kochanowicz Jan, Kułakowska Alina

机构信息

Department of Neurology, Medical University of Bialystok, Bialystok, Poland.

Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok, Bialystok, Poland.

出版信息

Front Neurol. 2021 Apr 6;12:631134. doi: 10.3389/fneur.2021.631134. eCollection 2021.

DOI:10.3389/fneur.2021.631134
PMID:33889124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8055847/
Abstract

Fc receptors have been shown to play a role in several autoimmune diseases. We aimed to test, for the first time, whether some of the single nucleotide variants in the gene were associated with multiple sclerosis (MS) susceptibility and clinical manifestations in the Polish population. The case-control study included 94 individuals with MS and 160 healthy subjects. We genotyped two single nucleotide variants of the gene: rs2012199 and rs6679793. The age of onset, disease duration, and clinical condition of the MS subjects were analyzed. For statistical analysis, we used the chi-squared test confirmed with Fisher's exact test. We observed the significant differences in the distribution of investigated genotypes between MS subjects and healthy controls. The CC and CT genotypes, as well as the C allele of rs2012199, were significantly more common in the MS subjects, as were genotypes AA and AG, and allele A of rs6679793. We noted that decreased MS susceptibility was associated with the T allele rs2012199 (OR = 0.37, = 0.0002) and G allele rs6679793 (OR = 0.6, = 0.02). Our results support the role of the locus in MS predisposition and extend the evidence of its influence on autoimmunity.

摘要

Fc受体已被证明在多种自身免疫性疾病中起作用。我们旨在首次测试该基因中的一些单核苷酸变异是否与波兰人群中的多发性硬化症(MS)易感性和临床表现相关。病例对照研究包括94名MS患者和160名健康受试者。我们对该基因的两个单核苷酸变异进行了基因分型:rs2012199和rs6679793。分析了MS患者的发病年龄、病程和临床状况。为了进行统计分析,我们使用了经Fisher精确检验确认的卡方检验。我们观察到MS患者和健康对照之间所研究基因型的分布存在显著差异。CC和CT基因型,以及rs2012199的C等位基因,在MS患者中显著更常见,rs6679793的AA和AG基因型以及A等位基因也是如此。我们注意到MS易感性降低与rs2012199的T等位基因(OR = 0.37,P = 0.0002)和rs6679793的G等位基因(OR = 0.6,P = 0.02)相关。我们的结果支持该基因座在MS易感性中的作用,并扩展了其对自身免疫影响的证据。

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