Visual masking deficits in schizophrenia: a view into the genetics of the disease through an endophenotype.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_47A6F37C5EAD
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Visual masking deficits in schizophrenia: a view into the genetics of the disease through an endophenotype.
Journal
Translational psychiatry
Author(s)
Shaqiri A., Hodel F., da Cruz J.R., Roinishvili M., Chkonia E., Brand A., Fellay J., Herzog M.H.
ISSN
2158-3188 (Electronic)
ISSN-L
2158-3188
Publication state
Published
Issued date
31/12/2022
Peer-reviewed
Oui
Volume
12
Number
1
Pages
529
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
Schizophrenia is a severe psychiatric disorder determined by a complex mixture of genetic and environmental factors. To better understand the contributions of human genetic variations to schizophrenia, we performed a genome-wide association study (GWAS) of a highly sensitive endophenotype. In this visual masking endophenotype, two vertical bars, slightly shifted in the horizontal direction, are briefly presented (vernier offset). Participants are asked to indicate the offset direction of the bars (either left or right). The bars are followed by a grating mask, which makes the task both spatially and temporally challenging. The inter-stimulus interval (ISI) between the vernier and the mask was determined in 206 patients with schizophrenia, 109 first-order relatives, and 143 controls. Usually, in GWAS studies, patients are compared to controls (i.e., a binary task) without considering the large differences in performance between patients and controls, as it occurs in many paradigms. The masking task allows for a particularly powerful analysis because the differences in ISI within the patient population are large. We genotyped all participants and searched for associations between human polymorphisms and the masking endophenotype using a linear mixed model. We did not identify any genome-wide significant associations (p < 5 × 10 <sup>-8</sup> ), indicating that common variants with strong effects are unlikely to contribute to the large inter-group differences in visual masking. However, we found significant differences in polygenetic risk scores (PRS) between patients and controls, and relatives and controls.
Keywords
Humans, Schizophrenia/genetics, Perceptual Masking, Endophenotypes, Genome-Wide Association Study, Genotype, Visual Perception/genetics
Pubmed
Web of science
Open Access
Yes
Create date
10/01/2023 14:53
Last modification date
23/01/2024 8:24
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