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乙二醛酶1常见变异与自闭症谱系障碍之间无关联。

No association between common variants in glyoxalase 1 and autism spectrum disorders.

作者信息

Rehnström Karola, Ylisaukko-Oja Tero, Vanhala Raija, von Wendt Lennart, Peltonen Leena, Hovatta Iiris

机构信息

Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland. karola.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):124-7. doi: 10.1002/ajmg.b.30582.

Abstract

The autism spectrum disorders (ASDs) are complex diseases with a strong genetic component. Numerous candidate gene studies have tested association between various functional and positional candidate genes and autism, but no common variation predisposing for autism has been identified to date. It has been previously proposed, that glyoxalase 1 (GLO1) might be involved in the pathogenesis of autism as GLO1 protein polarity was significantly changed in the brains of autism patients compared to controls. GLO1 harbors a functional polymorphism that affects the polarity and the enzymatic activity of the protein. In the same study, this polymorphism showed a suggestive association to autism. To investigate whether common variants in GLO1 predispose to autism in the Finnish population, we have genotyped six polymorphisms in GLO1 in families with more than 230 individuals affected with ASDs and carried out both linkage and association analyses. We did not observe significant linkage or association between any SNP and ASDs. Therefore, we suggest that common variants in GLO1 are not significant susceptibility factors for ASDs in the Finnish population.

摘要

自闭症谱系障碍(ASD)是具有强大遗传成分的复杂疾病。众多候选基因研究已测试了各种功能和定位候选基因与自闭症之间的关联,但迄今为止尚未发现导致自闭症的常见变异。此前有人提出,乙二醛酶1(GLO1)可能参与自闭症的发病机制,因为与对照组相比,自闭症患者大脑中GLO1蛋白的极性发生了显著变化。GLO1存在一种功能性多态性,会影响该蛋白的极性和酶活性。在同一研究中,这种多态性显示出与自闭症有提示性关联。为了研究GLO1中的常见变异是否会使芬兰人群易患自闭症,我们对230多名受ASD影响的家庭中GLO1的六个多态性进行了基因分型,并进行了连锁分析和关联分析。我们未观察到任何单核苷酸多态性(SNP)与ASD之间存在显著的连锁或关联。因此,我们认为GLO1中的常见变异不是芬兰人群中ASD的重要易感因素。

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