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首页> 外文期刊>Journal of Neuroimmunology: Official Bulletin of the Research Committee on Neuroimmunology of the World Federation of Neurology >Skew in the human caveolin 1 gene upstream purine complex homozygote haplotype compartment in multiple sclerosis.
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Skew in the human caveolin 1 gene upstream purine complex homozygote haplotype compartment in multiple sclerosis.

机译：人小窝蛋白1基因上游嘌呤复合体纯合单倍体区室中的多发性硬化中的偏斜。

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摘要

Caveolin 1 (CAV1) is a component of the myelin sheath and the expression of the gene encoding this protein is increased during myelination in Schwann cells and oligodendrocytes. We sought to investigate the homozygote haplotype compartment in a recently identified polymorphic purine complex at the upstream region of the human CAV1 gene in multiple sclerosis (MS). In a case/control study design, the region was characterized in 126 cases of MS diagnosed based on the Revised McDonald diagnostic criteria, and 460 controls. We report a skew in the homozygote haplotype compartment in the cases versus controls both in a qualitative and quantitative respect. Excess homozygosity for haplotypes was observed in the MS cases (corrected p<0.012, OR=2.54, CI 1.14-5.64). Furthermore, we observed eight homozygote haplotypes in the MS cases that were non-existent in the controls (p<0.0003, OR=20.27, CI 2.50-163.8). For the first time, our data highlight the CAV1 upstream purine complex as a novel susceptibility genomic locus in the pathophysiology of MS. Of utmost importance, the region has been conserved across species, including mouse, guinea pig, rhesus macaque, and human. The functional effect of this region remains to be clarified in the future studies.
机译：小窝蛋白1（CAV1）是髓鞘的组成部分，并且在雪旺氏细胞和少突胶质细胞的髓鞘形成过程中，编码该蛋白的基因的表达增加。我们试图研究多发性硬化症（MS）中人类CAV1基因上游区域最近鉴定的多态嘌呤复合物中的纯合子单倍型区室。在病例/对照研究设计中，该区域的特征是根据修订的McDonald诊断标准诊断的126例MS患者和460例对照。我们报告的情况下，在质和量方面与对照相比，纯合子单倍型区室存在偏斜。在MS病例中观察到单倍型纯合子过多（校正p <0.012，OR = 2.54，CI 1.14-5.64）。此外，我们在对照中不存在的MS病例中观察到八种纯合子单倍型（p <0.0003，OR = 20.27，CI 2.50-163.8）。我们的数据首次强调了CAV1上游嘌呤复合物是MS病理生理学中的一种新型易感基因组基因座。最重要的是，该区域在各种物种（包括小鼠，豚鼠，猕猴和人类）中都得到了保存。该区域的功能作用在未来的研究中仍有待阐明。

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