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在一个希腊队列中,作为早发型和成人型多发性硬化症的风险等位基因和保护等位基因。

as Risk Allele and as Protective Allele for Both Early- and Adult-Onset Multiple Sclerosis in a Hellenic Cohort.

作者信息

Anagnostouli Maria, Artemiadis Artemios, Gontika Maria, Skarlis Charalampos, Markoglou Nikolaos, Katsavos Serafeim, Kilindireas Konstantinos, Doxiadis Ilias, Stefanis Leonidas

机构信息

Faculty of Neurology in Demyelinating Disease Unit & Director of Immunogenetics Laboratory, 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, NKUA, Aeginition Hospital, 115 28 Athens, Greece.

Immunogenetics Laboratory, 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, NKUA, Aeginition Hospital, 115 28 Athens, Greece.

出版信息

Brain Sci. 2020 Jun 16;10(6):374. doi: 10.3390/brainsci10060374.

Abstract

: Human Leucocyte Antigens (HLA) represent the genetic loci most strongly linked to Multiple Sclerosis (MS). Apart from and , alleles have been previously studied regarding their role in MS pathogenesis, but to a much lesser extent. Our objective was to investigate the risk/resistance influence of alleles in Hellenic patients with early- and adult-onset MS (EOMS/AOMS), and possible associations with the risk allele. : One hundred MS-patients (28 EOMS, 72 AOMS) fulfilling the McDonald-2010 criteria were enrolled. HLA genotyping was performed with standard low-resolution Sequence-Specific Oligonucleotide techniques. Demographics, clinical and laboratory data were statistically processed using well-defined parametric and nonparametric methods and the SPSSv22.0 software. : No significant differences were found between EOMS and AOMS patients for 23 distinct and 12 alleles. The allele frequency was found to be significantly increased, and the allele frequency significantly decreased, in AOMS patients compared to controls. The allele was to be found significantly decreased in AOMS and EOMS patients compared to controls. : Our study supports the previously reported risk susceptibility role of the allele in AOMS among Caucasians. Additionally, we report for the first time a protective role of the allele among Hellenic patients with both EOMS and AOMS.

摘要

人类白细胞抗原(HLA)是与多发性硬化症(MS)关联最为紧密的基因位点。除了[未提及的某些内容]和[未提及的某些内容],[未提及的某些内容]等位基因此前已针对其在MS发病机制中的作用进行过研究,但程度要小得多。我们的目的是研究[未提及的某些内容]等位基因对希腊早发型和成年型MS(EOMS/AOMS)患者的风险/抵抗影响,以及与[未提及的某些内容]风险等位基因的可能关联。

方法

招募了100名符合2010年麦克唐纳标准的MS患者(28例EOMS,72例AOMS)。采用标准低分辨率序列特异性寡核苷酸技术进行HLA基因分型。使用明确的参数和非参数方法以及SPSSv22.0软件对人口统计学、临床和实验室数据进行统计处理。

结果

在23个不同的[未提及的某些内容]和12个[未提及的某些内容]等位基因方面,EOMS和AOMS患者之间未发现显著差异。与对照组相比,AOMS患者中[未提及的某些内容]等位基因频率显著增加,[未提及的某些内容]等位基因频率显著降低。与对照组相比,AOMS和EOMS患者中[未提及的某些内容]等位基因显著降低。

结论

我们的研究支持先前报道的[未提及的某些内容]等位基因在白种人AOMS中的风险易感性作用。此外,我们首次报道了[未提及的某些内容]等位基因在希腊EOMS和AOMS患者中的保护作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba50/7349544/0b209bf77b03/brainsci-10-00374-g001.jpg

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