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A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusion

Journal of Human Genetics volume 66, pages 261–271 (2021)Cite this article

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Abstract

The Ebbinghaus illusion (EI) is an optical illusion of relative size perception that reflects the contextual integration ability in the visual modality. The current study investigated the genetic basis of two subtypes of EI, EI overestimation, and EI underestimation in humans, using quantitative genomic analyses. A total of 2825 Chinese adults were tested on their magnitudes of EI overestimation and underestimation using the method of adjustment, a standard psychophysical protocol. Heritability estimation based on common single nucleotide polymorphisms (SNPs) revealed a moderate heritability (34.3%) of EI overestimation but a nonsignificant heritability of EI underestimation. A meta-analysis of two phases (phase 1: n = 1986, phase 2: n = 839) of genome-wide association study (GWAS) discovered 1969 and 58 SNPs reaching genome-wide significance for EI overestimation and EI underestimation, respectively. Among these SNPs, 55 linkage-disequilibrium-independent SNPs were associated with EI overestimation in phase 1 with genome-wide significance and their associations could be confirmed in phase 2 cohort. Gene-based analyses found seven genes to be associated with EI overestimation at the genome-wide level, two from meta-analysis, and five from classical two-stage analysis. Overall, this study provided consistent evidence for a substantial genetic basis of the Ebbinghaus illusion.

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Acknowledgements

This work was supported by the National Natural Science Foundation of China (Projects 31930053, 31421003 and 31671168). We are grateful to Zhangyan Guan and Huizhen Yang for help with DNA preparation.

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Author notes

  1. These authors contributed equally: Zijian Zhu, Biqing Chen, Ren Na

Authors and Affiliations

  1. School of Psychology, Shaanxi Normal University, 710062, Xi’an, China

    Zijian Zhu

  2. PKU-IDG/McGovern Institute for Brain Research, and Peking-Tsinghua Center for Life Sciences, Peking University, 100871, Beijing, China

    Biqing Chen, Ren Na, Wan Fang, Wenxia Zhang, Yi Rao & Fang Fang

  3. Central Laboratory, Affiliated Hospital of Nanjing University of Chinese Medicine, Jiangsu Province Hospital of Chinese Medicine, 210029, Nanjing, China

    Biqing Chen

  4. Beijing Innovative Center for Genomics, Peking University School of Life Sciences, and National Institute of Biological Sciences, 102206, Beijing, China

    Wan Fang & Yi Rao

  5. College of Laboratory Medicine, Chongqing Medical University, 400016, Chongqing, China

    Qin Zhou, Han Lei, Ailong Huang & Tingmei Chen

  6. University-Town Hospital of Chongqing Medical University, 401331, Chongqing, China

    Shanbi Zhou

  7. 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

    Dongsheng Ni, Yuping Gu & Jianing Liu

  8. School of Psychological and Cognitive Sciences and Beijing Key Laboratory of Behavior and Mental Health, Peking University, 100871, Beijing, China

    Fang Fang

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Zhu, Z., Chen, B., Na, R. et al. A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusion. J Hum Genet 66, 261–271 (2021). https://doi.org/10.1038/s10038-020-00827-4

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