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脑源性神经营养因子Val66Met多态性:对多发性硬化易感性和疾病严重程度的影响。

The BDNF-Val66Met polymorphism: implications for susceptibility to multiple sclerosis and severity of disease.

作者信息

Lindquist S, Schott B H, Ban M, Compston D A S, Sawcer S, Sailer M

机构信息

Department of Neurology II, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany.

出版信息

J Neuroimmunol. 2005 Oct;167(1-2):183-5. doi: 10.1016/j.jneuroim.2005.06.008.

Abstract

Neurodegeneration following inflammatory injury is considered to be a pathological correlate of irreversible disability in patients with multiple sclerosis. The availability of neurotrophins could influence the probability or rate of disease progression and the time of onset. The BDNF-Val66Met-polymorphism leads to altered intracellular transport and secretion of BDNF, and is thus a logical candidate for a gene that influences susceptibility and, more specifically, the clinical course of multiple sclerosis. In order to test this hypothesis we genotyped the polymorphism in 951 UK multiple sclerosis trio families, but found no evidence for association before (p=0.63) or after stratification for clinical course (p=0.73).

摘要

炎症性损伤后的神经退行性变被认为是多发性硬化症患者不可逆残疾的病理相关因素。神经营养因子的可获得性可能会影响疾病进展的概率或速率以及发病时间。脑源性神经营因子(BDNF)的Val66Met多态性会导致BDNF细胞内转运和分泌的改变,因此是一个影响易感性,更具体地说是影响多发性硬化症临床病程的基因的合理候选者。为了验证这一假设,我们对951个英国多发性硬化症三联体家庭的该多态性进行了基因分型,但未发现发病前(p=0.63)或根据临床病程分层后(p=0.73)存在关联的证据。

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