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Heritability of human visual contour integration-an integrated genomic study.
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2019-07-30 , DOI: 10.1038/s41431-019-0478-2 Zijian Zhu 1 , Biqing Chen 1, 2 , Ren Na 1 , Wan Fang 1, 3 , Wenxia Zhang 1 , Qin Zhou 4 , Shanbi Zhou 5 , Han Lei 4 , Ailong Huang 4 , Tingmei Chen 4 , Dongsheng Ni 6 , Yuping Gu 6 , Jianing Liu 6 , Yi Rao 1, 3 , Fang Fang 1, 7
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2019-07-30 , DOI: 10.1038/s41431-019-0478-2 Zijian Zhu 1 , Biqing Chen 1, 2 , Ren Na 1 , Wan Fang 1, 3 , Wenxia Zhang 1 , Qin Zhou 4 , Shanbi Zhou 5 , Han Lei 4 , Ailong Huang 4 , Tingmei Chen 4 , Dongsheng Ni 6 , Yuping Gu 6 , Jianing Liu 6 , Yi Rao 1, 3 , Fang Fang 1, 7
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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.
中文翻译：
人类视觉轮廓整合的遗传性——综合基因组研究。
轮廓整合是处理自然场景中的遮挡和不连续性的关键视觉功能，对于人类的生存至关重要。然而，个人并不同样具备这种能力。特别是，轮廓整合缺陷常见于精神障碍患者，尤其是精神分裂症患者。为了了解这些个体差异的根本原因，当前的研究调查了人类轮廓整合的遗传基础。共有 2619 名正常参与者接受了检测杂乱背景中连续轮廓的能力测试。进行了定量基因组分析，包括基于单核苷酸多态性 (SNP) 的遗传力估计以及 SNP、基因和通路水平的关联测试。遗传力估计表明，常见的 SNP 贡献了总体表型变异的 49.5%（平均值的标准误差 = 15.6%），表明轮廓整合的遗传力中等。两阶段全基因组关联分析 (GWAS) 检测到四个 SNP 在发现测试中达到全基因组显着性 (N = 1931)，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存在显着的全基因组关联。另一个基因聚腺苷酸结合蛋白核 1 样细胞质 (PABPN1L) 在发现队列中显示出提示意义 (p < 1 × 10-4)，并在复制队列中得到复制 (p = 0.009)。通路分析没有检测到任何显着的通路。 总而言之，这项研究确定了与轮廓整合的重要基因关联，并为感知环境中连续轮廓的能力的遗传传递提供了支持。
更新日期：2019-07-30
中文翻译：
人类视觉轮廓整合的遗传性——综合基因组研究。
轮廓整合是处理自然场景中的遮挡和不连续性的关键视觉功能，对于人类的生存至关重要。然而，个人并不同样具备这种能力。特别是，轮廓整合缺陷常见于精神障碍患者，尤其是精神分裂症患者。为了了解这些个体差异的根本原因，当前的研究调查了人类轮廓整合的遗传基础。共有 2619 名正常参与者接受了检测杂乱背景中连续轮廓的能力测试。进行了定量基因组分析，包括基于单核苷酸多态性 (SNP) 的遗传力估计以及 SNP、基因和通路水平的关联测试。遗传力估计表明，常见的 SNP 贡献了总体表型变异的 49.5%（平均值的标准误差 = 15.6%），表明轮廓整合的遗传力中等。两阶段全基因组关联分析 (GWAS) 检测到四个 SNP 在发现测试中达到全基因组显着性 (N = 1931)，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存在显着的全基因组关联。另一个基因聚腺苷酸结合蛋白核 1 样细胞质 (PABPN1L) 在发现队列中显示出提示意义 (p < 1 × 10-4)，并在复制队列中得到复制 (p = 0.009)。通路分析没有检测到任何显着的通路。 总而言之，这项研究确定了与轮廓整合的重要基因关联，并为感知环境中连续轮廓的能力的遗传传递提供了支持。
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