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克什米尔族人群载脂蛋白E基因的遗传变异及其与创伤性脑损伤后结局的关联。

Genetic Variation of ApoE Gene in Ethnic Kashmiri Population and Its Association with Outcome After Traumatic Brain Injury.

作者信息

Yousuf Adfar, Khursheed Nayil, Rasool Ishrat, Kundal Vijay, Jeelani Humira, Afroze Dil

机构信息

Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India.

出版信息

J Mol Neurosci. 2015 Jul;56(3):597-601. doi: 10.1007/s12031-015-0554-1. Epub 2015 Apr 10.

Abstract

The outcome from traumatic brain injury (TBI) is variable and only partly explained by known prognostic factors. Genetic factors may influence the brain's susceptibility to injury or capacity for repair and regeneration. ApoE has been implicated in modifying neurological outcome after TBI, although the mechanisms by which this occurs remain poorly defined. Apolipoprotein E is an apparently multifunctional protein involved in the response of the brain to injury and in subsequent repair processes. Several studies have shown that patients with APOE e4 have a poorer outcome after TBI. This study was aimed to analyse the genotypes of ApoE in Kashmiri population and to examine the association of APOE genotype with outcome after TBI. A total of 450 subjects (300 healthy controls and 150 TBI patients) were recruited for the study. Genotyping was done by PCR-restriction fragment length polymorphism (RFLP).Our study indicated Apoe3/e3 to be the most common genotype in this study group. The allele frequency of the Apo E gene in these study subjects was observed to be 0.07 for the e2 allele, 0.82 for the e3 allele and 0.11 for the e4 allele. However, no association between the presence of APOe4 allele and outcome after head injury was observed in this study [p = 0.92]. Thus, genotype containing the e4 allele (e4/e3 and e4/e4) was not associated with unfavourable outcome after TBI in Kashmiri population.

摘要

创伤性脑损伤(TBI)的预后各不相同,已知的预后因素只能部分解释其原因。遗传因素可能会影响大脑对损伤的易感性或修复与再生能力。载脂蛋白E(ApoE)已被认为与TBI后的神经学预后改变有关,尽管其发生机制仍不清楚。载脂蛋白E是一种明显具有多种功能的蛋白质,参与大脑对损伤的反应及随后的修复过程。多项研究表明,携带APOE ε4的患者TBI后的预后较差。本研究旨在分析克什米尔人群中ApoE的基因型,并研究APOE基因型与TBI后预后的相关性。本研究共招募了450名受试者(300名健康对照者和150名TBI患者)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行基因分型。我们的研究表明,Apoe3/e3是该研究组中最常见的基因型。在这些研究对象中,Apo E基因的等位基因频率分别为:ε2等位基因为0.07,ε3等位基因为0.82,ε4等位基因为0.11。然而,本研究未观察到APOε4等位基因的存在与头部损伤后预后之间的关联[p = 0.92]。因此,在克什米尔人群中,含有ε4等位基因的基因型(e4/e3和e4/e4)与TBI后的不良预后无关。

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