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891 – Consanguinity Multiplex And Schizophrenia - The Royal Road To Genes Of Major Effect

Published online by Cambridge University Press:  15 April 2020

T. Mahmood ,
A. Cardno ,
Q. Nazar ,
S. Clapcote  and
C. Inglehearn
T. Mahmood
Affiliation:
University of LeedsLeeds & York Partnership NHS Foundation Trust Leeds & York Partnership NHS Foundation TrustAcademic Unit of Psychiatry& Behavioural Sciences
A. Cardno
Affiliation:
Academic Unit of Psychiatry, University of Leeds, Leeds
Q. Nazar
Affiliation:
Bradford District Care Trust, Bradford
S. Clapcote
Affiliation:
Institute of Membrane & Systems Biology
C. Inglehearn
Affiliation:
Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK

Abstract

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Introduction

Multi-factorial aetiology of schizophrenia has an undeniably large genetic component. Attempts to elucidate its genetics with large case control studies have met with limited success and other approaches are warranted.

Method & results

In an extended family (pedigree 1) in which two sets of siblings - children of a brother and sister - are intermarried; six members with DSM-IV schizophrenia share a 6MB region of homozygosity on chromosome 13q. One out of twelve genes at this locus shows a sequence change in its promoter region.

[Pedigree 1]

Another family (pedigree 2) with two affected brothers has revealed two loci of homozygosity on chromosomes 5 and 9.

[Pedigree 2]

A third family with nine cases of psychosis is being investigated.

Conclusion

An approach which focuses on families with multiple cases in one generation and evidence of consanguinity in parents may be particularly successful for identifying recessive genes.

Type
Abstract
Information
European Psychiatry , Volume 28 , Issue S1: Abstracts of the 21th European Congress of Psychiatry , 2013 , 28-E344
Copyright
Copyright © European Psychiatric Association 2013
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