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Common variants in SLC1A2 and schizophrenia: Association and cognitive function in patients with schizophrenia and healthy individuals

机译:SLC1A2和精神分裂症的常见变异:精神分裂症患者和健康个体的联想和认知功能

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SLC1A2 is reported to be responsible for the majority of glutamate uptake, which has a crucial role in neural development and synaptic plasticity, and a disturbance in glutamatergic transmission has been suggested to be involved in the pathophysiology of schizophrenia (SCZ) and cognition. To evaluate the relationship of common variants within SLC1A2 with SCZ and cognition in Han Chinese, 28 tag SNPs were genotyped in the discovery stage, which included 1117 cases and 2289 controls; significantly associated markers were genotyped in the replication stage with 2128 cases and 3865 controls. The rs4354668 SNP was identified to be significantly associated with SCZ in both datasets, and a similar pattern was also observed in the two-stage study on conducting imputation and haplotype association analyses. In addition, significant associations between the rs4354668 SNP and cognition were observed when processing the perseverative error of the Wisconsin Card Sorting Test in patients and controls. Our results provide supportive evidence for an effect of SLC1A2 on the etiology of SCZ, suggesting that genetic variation (rs4354668 and its haplotypes) in SLC1A2 may be involved in impaired executive function, which adds to the current body of knowledge regarding the risk of SCZ and the impairment of cognitive performance. (C) 2015 Elsevier B.V. All rights reserved.
机译:据报道SLC1A2负责大部分谷氨酸的摄取,谷氨酸的摄取在神经发育和突触可塑性中起着至关重要的作用,并且谷氨酸能传递的紊乱被认为与精神分裂症(SCZ)的病理生理和认知有关。为了评估汉族汉语中SLC1A2内常见变异与SCZ和认知的关系,在发现阶段对28个标签SNP进行了基因分型,包括1117例病例和2289例对照。在复制阶段对2128例病例和3865例对照进行了显着相关标记的基因分型。 rs4354668 SNP在两个数据集中均与SCZ显着相关,并且在进行插补和单倍型关联分析的两阶段研究中也观察到了相似的模式。此外,在处理患者和对照组中威斯康星卡片分类测试的持久性错误时,观察到rs4354668 SNP与认知之间存在显着关联。我们的结果为SLC1A2对SCZ病因的影响提供了支持性证据,表明SLC1A2中的遗传变异(rs4354668及其单倍型)可能与执行功能受损有关,这增加了当前有关SCZ和认知能力的损害。 (C)2015 Elsevier B.V.保留所有权利。

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