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Neuregulin 1 rs3924999 基因型与反扫视和平滑追随眼动的关联。

Association of Neuregulin 1 rs3924999 genotype with antisaccades and smooth pursuit eye movements.

机构信息

Department of Neuroimaging, King's College Institute of Psychiatry, London, UK.

出版信息

Genes Brain Behav. 2010 Aug;9(6):621-7. doi: 10.1111/j.1601-183X.2010.00594.x. Epub 2010 May 18.

Abstract

Neuregulin 1 (NRG1) has been identified as one of the leading candidate genes for schizophrenia. However, its functional mechanisms and its effects on neurocognition remain unclear. In this study, we used two well-established oculomotor endophenotypes, the antisaccade (AS) and smooth pursuit eye movement (SPEM) tasks, to investigate the functional mechanisms of a single nucleotide polymorphism (SNP) in NRG1 (rs3924999) at the neurocognitive level in a healthy volunteer sample. A total of 114 healthy Caucasian volunteers completed genotyping for NRG1 rs3924999 and infrared oculographic assessment of AS and SPEM (at target velocities of 12 degrees , 24 degrees and 36 degrees per second). Additionally, self-report questionnaires of schizotypy, neuroticism, attention deficit hyperactivity and obsessive-compulsive traits were included. A significant effect of rs3924999 genotype, with gender as a covariate, was found for AS amplitude gain (P < 0.01), with an increasing number of A alleles being associated with increasingly hypermetric performance. No statistically significant associations were found for other AS and SPEM variables or questionnaire scores. These findings indicate that NRG1 rs3924999 affects spatial accuracy on the AS task, suggesting an influence of the gene on the neural mechanisms underlying visuospatial sensorimotor transformations, a mechanism that has been previously found to be impaired in patients with schizophrenia and their relatives.

摘要

神经调节蛋白 1(NRG1)已被确定为精神分裂症的主要候选基因之一。然而,其功能机制及其对神经认知的影响仍不清楚。在这项研究中,我们使用了两种成熟的眼动终点表现,反扫视(AS)和平滑追随眼动(SPEM)任务,来研究 NRG1(rs3924999)单核苷酸多态性(SNP)在健康志愿者样本中的神经认知水平上的功能机制。共有 114 名健康的白种人志愿者完成了 NRG1 rs3924999 的基因分型和反扫视和 SPEM 的红外眼动评估(目标速度为 12 度、24 度和 36 度每秒)。此外,还包括了精神分裂症特质、神经质、注意力缺陷多动和强迫特质的自我报告问卷。rs3924999 基因型存在显著的性别协变量效应,对反扫视幅度增益有影响(P < 0.01),随着 A 等位基因数量的增加,表现出越来越超标的性能。其他 AS 和 SPEM 变量或问卷评分没有统计学上的显著关联。这些发现表明,NRG1 rs3924999 影响反扫视任务的空间准确性,表明该基因对视觉空间感觉运动转换的神经机制有影响,这种机制以前被发现在精神分裂症患者及其亲属中存在缺陷。

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