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白细胞介素 7 受体 alpha 多态性 rs6897932 与巴尔干西部地区多发性硬化易感性的关系。

Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans.

机构信息

Laboratory of Radiobiology and Molecular Genetics, Vinca Institute of Nuclear Sciences, Belgrade, Serbia.

出版信息

Mult Scler. 2010 May;16(5):533-6. doi: 10.1177/1352458509360548. Epub 2010 Mar 1.

Abstract

The interleukin 7 receptor alpha single nucleotide polymorphism rs6897932 was identified as a multiple sclerosis susceptibility-modifying polymorphism in genome-wide and gene scan studies, mainly in populations in western countries. The aim of this study was to investigate the association of interleukin 7 receptor alpha rs6897932 with multiple sclerosis in populations from the Western Balkans: Serbia, Croatia, and Slovenia. A total of 678 unrelated white patients and 597 unrelated, ethnically matched healthy controls were included in the study. Genotyping was performed by real-time polymerase chain reaction. We found no significant difference in genotype or allele frequencies between controls and patients with multiple sclerosis either separately in Serbian, Croatian, and Slovenian populations or in the whole sample from the Western Balkans. The odds ratio for multiple sclerosis in this study was 1.04 (0.86-1.25) for the C allele. It is known that demographic as well as environmental factors have a substantial role in multiple sclerosis development, as well as population genetic background. The results of this study indicate that other types of genome variants should be required for the development and/or progression of multiple sclerosis, which may vary among populations.

摘要

白细胞介素 7 受体 α 单核苷酸多态性 rs6897932 被确定为全基因组和基因扫描研究中多发性硬化症的易感修饰多态性,主要在西方国家的人群中。本研究的目的是研究白细胞介素 7 受体α rs6897932 与来自西巴尔干地区(塞尔维亚、克罗地亚和斯洛文尼亚)的人群多发性硬化症之间的关联。本研究共纳入了 678 名无关的白人患者和 597 名无关的、种族匹配的健康对照者。通过实时聚合酶链反应进行基因分型。我们没有发现白细胞介素 7 受体α rs6897932 基因型或等位基因频率在塞尔维亚、克罗地亚和斯洛文尼亚人群中或在整个西巴尔干地区的样本中与多发性硬化症患者之间存在显著差异。在这项研究中,C 等位基因的多发性硬化症的优势比为 1.04(0.86-1.25)。已知人口统计学和环境因素在多发性硬化症的发展以及人群遗传背景中起着重要作用。本研究的结果表明,其他类型的基因组变异可能在不同人群中也存在差异,可能需要用于多发性硬化症的发展和/或进展。

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