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南非多发性硬化症患者的病毒和遗传因素分析。

Analysis of viral and genetic factors in South African patients with multiple sclerosis.

作者信息

de Villiers J Nico P, Treurnicht Florette K, Warnich Louise, Carr Jonathan, van Rensburg Susan J, Kotze Maritha J

机构信息

Genecare Molecular Genetics (Pty) Ltd, Christiaan Barnard Memorial Hospital, 162 Longmarket Street, Cape Town, South Africa.

出版信息

Metab Brain Dis. 2006 Sep;21(2-3):163-9. doi: 10.1007/s11011-006-9016-3. Epub 2006 Jul 22.

Abstract

A significant association was previously demonstrated between multiple sclerosis (MS) and the functional 5'-(GT)n polymorphism in the promoter region of the SLC11A1 gene, which has been implicated in both autoimmune and infectious disease susceptibility. In the present study the role of viral infection was investigated in South African MS patients in relation to specific SLC11A1 genotypes. Serum and peripheral blood mononuclear cells (PBMC) of 49 MS patients, 33 close relatives and 39 unrelated controls previously genotyped for SLC11A1 were screened for the presence of MS-associated retrovirus (MSRV) and two herpes virus (HHV-6 and EBV) sequences. Expression of the pol gene of MSRV was detected in the serum RNA of 34/49 (69%) MS patients whilst absent in the serum of 39 unrelated healthy control individuals (p < 0.001) but was also present in 23/33 (70%) of the unaffected close relatives of the patients. HHV-6 and EBV sequences were detected in both MS patients and control individuals. The viral sequences were not confined to a specific SLC11A1 genotype. Infection with these viruses is excluded as the primary cause for MS in the South African population since no significant differences were detected between MS patients and their unaffected close family members.

摘要

先前已证明,多发性硬化症(MS)与溶质载体家族11成员A1(SLC11A1)基因启动子区域功能性5'-(GT)n多态性之间存在显著关联,该基因与自身免疫性疾病和感染性疾病易感性均有关。在本研究中,针对南非MS患者,研究了病毒感染与特定SLC11A1基因型的关系。对49例MS患者、33名近亲及39名无关对照者的血清和外周血单个核细胞(PBMC)进行筛查,这些人之前已进行SLC11A1基因分型,以检测是否存在MS相关逆转录病毒(MSRV)及两种疱疹病毒(HHV-6和EBV)序列。在34/49(69%)例MS患者的血清RNA中检测到MSRV的pol基因表达,而在39名无关健康对照者的血清中未检测到(p<0.001),但在23/33(70%)例患者未受影响的近亲血清中也检测到了该基因表达。在MS患者和对照个体中均检测到HHV-6和EBV序列。病毒序列并不局限于特定的SLC11A1基因型。在南非人群中,这些病毒感染被排除为MS的主要病因,因为在MS患者及其未受影响的近亲之间未检测到显著差异。

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