Repository logo

Infoscience

  • English
  • French
Log In
Logo EPFL, École polytechnique fédérale de Lausanne

Infoscience

  • English
  • French
Log In
  1. Home
  2. Academic and Research Output
  3. Journal articles
  4. Visual masking deficits in schizophrenia: a view into the genetics of the disease through an endophenotype
 
research article

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

Shaqiri, Albulena  
•
Hodel, Flavia  
•
da Cruz, Janir Ramos  
Show more
December 31, 2022
Translational Psychiatry

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 x 10(-8)), 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.

  • Files
  • Details
  • Metrics
Type
research article
DOI
10.1038/s41398-022-02275-4
Web of Science ID

WOS:000906211000001

Author(s)
Shaqiri, Albulena  
Hodel, Flavia  
da Cruz, Janir Ramos  
Roinishvili, Maya
Chkonia, Eka
Brand, Andreas
Fellay, Jacques  
Herzog, Michael H.  
Date Issued

2022-12-31

Published in
Translational Psychiatry
Volume

12

Issue

1

Start page

1

End page

10, 529

Subjects

Psychiatry

•

nicotinic receptors

•

bipolar disorder

•

candidate genes

•

association

•

consortium

•

acuity

•

twin

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
UPFELLAY  
LPSY  
Available on Infoscience
January 16, 2023
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/193862
Logo EPFL, École polytechnique fédérale de Lausanne
  • Contact
  • infoscience@epfl.ch

  • Follow us on Facebook
  • Follow us on Instagram
  • Follow us on LinkedIn
  • Follow us on X
  • Follow us on Youtube
AccessibilityLegal noticePrivacy policyCookie settingsEnd User AgreementGet helpFeedback

Infoscience is a service managed and provided by the Library and IT Services of EPFL. © EPFL, tous droits réservés