PMID- 31363184 OWN - NLM STAT- MEDLINE DCOM- 20200717 LR - 20210110 IS - 1476-5438 (Electronic) IS - 1018-4813 (Print) IS - 1018-4813 (Linking) VI - 27 IP - 12 DP - 2019 Dec TI - Heritability of human visual contour integration-an integrated genomic study. PG - 1867-1875 LID - 10.1038/s41431-019-0478-2 [doi] AB - 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 x 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. FAU - Zhu, Zijian AU - Zhu Z AUID- ORCID: 0000-0003-4307-810X AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. FAU - Chen, Biqing AU - Chen B AUID- ORCID: 0000-0003-1443-1023 AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. AD - Central Laboratory, Affiliated Hospital of Nanjing University of Chinese Medicine, Jiangsu Province Hospital of Chinese Medicine, 210029, Nanjing, China. FAU - Na, Ren AU - Na R AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. FAU - Fang, Wan AU - Fang W AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. AD - Beijing Innovative Center for Genomics, Peking University School of Life Sciences, and National Institute of Biological Sciences, 102206, Beijing, China. FAU - Zhang, Wenxia AU - Zhang W AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. FAU - Zhou, Qin AU - Zhou Q AD - College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Zhou, Shanbi AU - Zhou S AD - University-Town Hospital of Chongqing Medical University, 401331, Chongqing, China. FAU - Lei, Han AU - Lei H AD - College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Huang, Ailong AU - Huang A AD - College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Chen, Tingmei AU - Chen T AD - College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Ni, Dongsheng AU - Ni D AD - Division of Molecular Nephrology and Creative Training Center for Undergraduates, M.O.E. Key Laboratory of Medical Diagnostics, College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Gu, Yuping AU - Gu Y AD - Division of Molecular Nephrology and Creative Training Center for Undergraduates, M.O.E. Key Laboratory of Medical Diagnostics, College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Liu, Jianing AU - Liu J AD - Division of Molecular Nephrology and Creative Training Center for Undergraduates, M.O.E. Key Laboratory of Medical Diagnostics, College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China. FAU - Rao, Yi AU - Rao Y AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. yrao@pku.edu.cn. AD - Beijing Innovative Center for Genomics, Peking University School of Life Sciences, and National Institute of Biological Sciences, 102206, Beijing, China. yrao@pku.edu.cn. FAU - Fang, Fang AU - Fang F AD - PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China. ffang@pku.edu.cn. AD - School of Psychological and Cognitive Sciences and Beijing Key Laboratory of Behavior and Mental Health, Peking University, 100871, Beijing, China. ffang@pku.edu.cn. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20190730 PL - England TA - Eur J Hum Genet JT - European journal of human genetics : EJHG JID - 9302235 RN - 0 (MicroRNAs) RN - 0 (PABPN1L protein, human) RN - 0 (Poly(A)-Binding Proteins) SB - IM MH - Cohort Studies MH - Female MH - Form Perception/*genetics/physiology MH - Genome-Wide Association Study MH - Genomics/methods MH - Genotype MH - Humans MH - Male MH - MicroRNAs/*genetics MH - Poly(A)-Binding Proteins/*genetics MH - Polymorphism, Single Nucleotide/genetics MH - Schizophrenia/*genetics/physiopathology MH - Vision, Ocular/genetics/physiology PMC - PMC6871533 COIS- The authors declare that they have no conflict of interest. EDAT- 2019/08/01 06:00 MHDA- 2020/07/18 06:00 PMCR- 2020/12/01 CRDT- 2019/08/01 06:00 PHST- 2019/02/03 00:00 [received] PHST- 2019/07/16 00:00 [accepted] PHST- 2019/06/11 00:00 [revised] PHST- 2019/08/01 06:00 [pubmed] PHST- 2020/07/18 06:00 [medline] PHST- 2019/08/01 06:00 [entrez] PHST- 2020/12/01 00:00 [pmc-release] AID - 10.1038/s41431-019-0478-2 [pii] AID - 478 [pii] AID - 10.1038/s41431-019-0478-2 [doi] PST - ppublish SO - Eur J Hum Genet. 2019 Dec;27(12):1867-1875. doi: 10.1038/s41431-019-0478-2. Epub 2019 Jul 30.