Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model.
Schizophr Res
; 209: 171-178, 2019 07.
Article
en En
| MEDLINE
| ID: mdl-31080157
ABSTRACT
The genetic underpinnings of schizophrenia (SCZ) remain unclear. SCZ genetic studies thus far have only identified numerous single nucleotide polymorphisms with small effect sizes and a handful of copy number variants (CNVs). This study investigates the prevalence of well-characterized CNV syndromes and candidate CNVs within a cohort of 348 SCZ patients, and explores correlations to their phenotypic findings. There was an enrichment of syndromic CNVs in the cohort, as well as brain-related and immune pathway genes within the detected CNVs. SCZ patients with brain-related CNVs had increased CNV burden, neurodevelopmental features, and types of hallucinations. Based on these results, we propose a CNV-SCZ model wherein specific phenotypic profiles should be prioritized for CNV screening within the SCZ patient population.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esquizofrenia
/
Encéfalo
/
Variaciones en el Número de Copia de ADN
/
Trastornos del Neurodesarrollo
/
Alucinaciones
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Schizophr Res
Asunto de la revista:
PSIQUIATRIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Canadá