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内皮型一氧化氮合酶(NOS3)rs2070744基因多态性与多发性硬化症风险

Endothelial nitric oxide synthase (NOS3) rs2070744 polymorphism and risk for multiple sclerosis.

作者信息

Agúndez José A G, García-Martín Elena, Rodríguez Christopher, Benito-León Julián, Millán-Pascual Jorge, Díaz-Sánchez María, Calleja Patricia, Turpín-Fenoll Laura, Alonso-Navarro Hortensia, García-Albea Esteban, Plaza-Nieto José Francisco, Jiménez-Jiménez Félix Javier

机构信息

UNEx, ARADyAL Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, Cáceres, Spain.

CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain.

出版信息

J Neural Transm (Vienna). 2020 Aug;127(8):1167-1175. doi: 10.1007/s00702-020-02211-0. Epub 2020 May 24.

Abstract

The possible role of oxidative stress and nitric oxide (NO) in the pathogenesis of multiple sclerosis (MS) has been suggested by several neuropathological, biochemical, and experimental data. Because the single-nucleotide polymorphism (SNP) rs2070744 in the endothelial nitric oxide synthase (eNOS or NOS3) gene (chromosome 7q36.1) showed association with the risk for MS in Iranians, we attempted to replicate the possible association between this SNP and the risk for MS in the Caucasian Spanish population. The frequencies of NOS3rs2070744 genotypes and allelic variants in 300 patients diagnosed with MS and 380 healthy controls were assessed with a TaqMan-based qPCR assay. The possible influence of the genotype frequency on age at onset of MS, the severity of MS, clinical evolutive subtypes of MS, and HLA-DRB11501 genotype were also analyzed. The frequencies of rs2070744 genotypes and allelic variants were not associated with the risk of developing MS and were not influenced by gender, age at onset and severity of MS, the clinical subtype of MS or the HLA-DRB11501 genotype. This study found a lack of association between NOS3 rs2070744 SNP and the risk for MS in Caucasian Spanish people.

摘要

多项神经病理学、生物化学及实验数据表明,氧化应激和一氧化氮(NO)在多发性硬化症(MS)发病机制中可能发挥作用。由于内皮型一氧化氮合酶(eNOS或NOS3)基因(位于7号染色体7q36.1)中的单核苷酸多态性(SNP)rs2070744在伊朗人群中显示与MS风险相关,我们试图在西班牙白种人群中复制该SNP与MS风险之间可能存在的关联。采用基于TaqMan的定量PCR分析方法,评估了300例确诊为MS的患者和380例健康对照中NOS3rs2070744基因型及等位基因变异的频率。还分析了基因型频率对MS发病年龄、MS严重程度、MS临床演变亚型以及HLA - DRB11501基因型的可能影响。rs2070744基因型及等位基因变异的频率与患MS的风险无关,且不受性别、MS发病年龄和严重程度、MS临床亚型或HLA - DRB11501基因型的影响。本研究发现,在西班牙白种人群中,NOS3 rs2070744 SNP与MS风险之间不存在关联。

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