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在克罗地亚和斯洛文尼亚患者中,CCR5delta32基因突变与多发性硬化症无关联。

No association of CCR5delta32 gene mutation with multiple sclerosis in Croatian and Slovenian patients.

作者信息

Ristić Smiljana, Lovrecić Luca, Starcević-Cizmarević Nada, Brajenović-Milić Bojana, Jazbec Sasa Sega, Barac-Latas Vesna, Vejnović Danilo, Sepcić Juraj, Kapović Miljenko, Peterlin Borut

机构信息

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia.

出版信息

Mult Scler. 2006 Jun;12(3):360-2. doi: 10.1191/135248506ms1305sr.

DOI:10.1191/135248506ms1305sr
PMID:16764352
Abstract

Several studies investigating the role of the CCR5delta32 mutation in multiple sclerosis (MS) have reported varied, often contradictory results. Therefore in the present study we have analysed whether the CCR5delta32 mutation is associated with the risk of/or disease process in Croatian and Slovene MS patients. Three hundred and twenty-five MS patients and 356 healthy controls were genotyped by the polymerase chain reaction method. Our results showed no significant differences in the distribution of CCR5delta32 mutations between MS and control subjects, indicating that this mutation does not influence susceptibility to MS. Furthermore, we did not observe that CCR5delta32 carrier-status could modulate age of disease onset or progression of the disease. It is therefore our conclusion that the present study indicates that the CCR5delta32 mutation is neither protective of, nor a risk factor, for MS development.

摘要

几项调查CCR5delta32突变在多发性硬化症(MS)中作用的研究报告了各不相同且常常相互矛盾的结果。因此,在本研究中,我们分析了CCR5delta32突变是否与克罗地亚和斯洛文尼亚MS患者的发病风险及/或疾病进程相关。采用聚合酶链反应方法对325例MS患者和356名健康对照进行基因分型。我们的结果显示,MS患者与对照受试者之间CCR5delta32突变的分布没有显著差异,这表明该突变不会影响对MS的易感性。此外,我们没有观察到CCR5delta32携带者状态能够调节疾病发病年龄或疾病进展。因此,我们的结论是,本研究表明CCR5delta32突变既不是MS发生的保护因素,也不是危险因素。

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