Genome-wide search to find the genetic elements underlying visual contour perception

Contour integration is a key function of the visual system to deal with occlusion and discontinuity in natural scenes. The current study is the first one to investigate the genetic basis of this visual function in humans. A total of 2619 normal participants were tested on their ability to detect continuous contours embedded in a cluttered background with a standard psychophysical protocol. Multi-level genomic analysis was performed, involving heritability estimation based on single nucleotide polymorphism (SNP) and association testing at SNP and gene levels.EGA study EGAS00001003639

轮廓整合（Contour integration）是视觉系统应对自然场景中遮挡与视觉间断的核心功能。本研究是首个针对人类该视觉功能的遗传基础展开的探究工作。本研究共纳入2619名正常受试者，采用标准心理物理学实验范式，对其检测嵌入杂乱背景中连续轮廓的能力进行测试。本次研究开展了多层次基因组学分析，涵盖基于单核苷酸多态性（single nucleotide polymorphism, SNP）的遗传力估算，以及在SNP与基因层面开展的关联检验。EGA研究 EGAS00001003639