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Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Abstract: The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200?kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N?=?3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P?=?0.0036) and delayed (P?=?0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P?=?0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Molecular Psychiatry, 2021, 26(9), 5307-5319

Editorial: Nature Publishing Group

 Año de publicación: 2021

Nº de páginas: 13

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41380-020-0820-7

ISSN: 1359-4184,1476-5578

Url de la publicación: https://doi.org/10.1038/s41380-020-0820-7

Autoría

THYGESEN, JOHAN H.

PRESMAN, AMELIA

HARJU-SEPPÄNEN, JASMINE

IRIZAR, HARITZ

JONES, REBECCA

KUCHENBAECKER, KAROLINE

LIN, KUANG

ALIZADEH, BEHROOZ Z.

AUSTIN-ZIMMERMAN, ISABELLE

BARTELS-VELTHUIS, AGNA

BHAT, ANJALI

BRUGGEMAN, RICHARD

CAHN, WIEPKE

CALAFATO, STELLA

BENEDICTO CRESPO FACORRO

DE HAAN, LIEWE

DE ZWARTE, SONJA M. C.

DI FORTI, MARTA

DÍEZ-REVUELTA, ÁLVARO

HALL, JEREMY