Heritability of human visual contour integration-an integrated genomic study

European Journal of Human Genetics : EJHG
Zijian ZhuFang Fang

Abstract

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 as...Continue Reading

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Datasets Mentioned

BETA
EGAS00001003639

Methods Mentioned

BETA
chips
chip
genotyping

Software Mentioned

EIGENSTRAT
VEGAS2
GCTA
IMPUTE
TargetScan
- GREML Power Calculator
MATLAB
FrACT
Haploview
PsychToolbox

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