轮廓整合,处理自然场景中的遮挡和不连续性的关键视觉功能,对人类生存至关重要。然而,个人并不具备这种能力。特别是,轮廓整合缺陷通常在精神障碍患者中检测到,尤其是精神分裂症。要了解这些个体差异的潜在来源,本研究调查了人类轮廓整合的遗传基础。总共测试了2619名正常参与者检测嵌入在杂乱背景中的连续轮廓的能力。进行了定量基因组分析,涉及基于单核苷酸多态性(SNP)的遗传力估计和SNP的关联测试,基因,和路径水平。遗传力估计表明,常见的SNP贡献了49.5%(平均值的标准误差=15.6%)的总体表型变异,表明等高线整合的中等遗传力。两阶段全基因组关联分析(GWAS)检测到四个SNP,在发现测试(N=1931)中达到全基因组显著性,但未通过复制测试(N=688)。基因水平分析进一步揭示了microRNA编码基因MIR1178在发现和复制队列中的显著全基因组关联。另一个基因poly(A)-结合蛋白核1样,细胞质(PABPN1L)在发现队列中显示出暗示性意义(p<1×10-4),并在复制队列中复制(p=0.009)。途径分析未检测到任何显著途径。一起来看,这项研究确定了与轮廓整合的重要基因关联,并为在环境中感知连续轮廓的能力的遗传传递提供了支持。
Contour integration, a key visual function to deal with occlusion and discontinuity in natural scenes, is essential to human survival. However, individuals are not equally well equipped with this ability. In particular, contour integration deficiencies are commonly detected in patients with mental disorders, especially schizophrenia. To understand the underlying sources of these individual differences, the current
study investigated the genetic basis of contour integration in humans. A total of 2619 normal participants were tested on their ability to detect continuous contours embedded in a cluttered background. Quantitative genomic analysis was performed, involving heritability estimation based on single nucleotide polymorphisms (SNPs) and association testing at SNP, gene, and pathway levels. Heritability estimation showed that common SNPs contributed 49.5% (standard error of the mean = 15.6%) of overall phenotypic variation, indicating moderate heritability of contour integration. Two-stage genome-wide association analysis (GWAS) detected four SNPs reaching genome-wide significance in the discovery test (N = 1931) but not passing the replication test (N = 688). Gene-level analysis further revealed a significant genome-wide association of a microRNA-encoding gene MIR1178 in both the discovery and replication cohorts. Another gene poly(A)-binding protein nuclear 1 like, cytoplasmic (PABPN1L) showed suggestive significance in the discovery cohort (p < 1 × 10-4) and was replicated in the replication cohort (p = 0.009). The pathway analysis did not detect any significant pathway. Taken together, this
study identified significant gene associations with contour integration and provided support for a genetic transmission of the ability to perceive continuous contours in the environment.