Rare chromosomal deletions and duplications increase risk of schizophrenia

Rare chromosomal deletions and duplications increase risk of schizophrenia

2008 September 11 | The International Schizophrenia Consortium
The International Schizophrenia Consortium (ISC) conducted a genome-wide survey of rare copy number variants (CNVs) in 3,391 patients with schizophrenia (SCZ) and 3,181 matched controls using high-density microarrays. They found that the total burden of CNVs, particularly rarer single-occurrence CNVs and those involving genes, was increased in SCZ patients compared to controls (P=3×10^-5; 1.15-fold increase). Specific regions associated with SCZ included the 22q11.2 region, which harbors genes implicated in psychotic symptoms, and large deletions on chromosomes 15q13.2 and 1q21.1. These findings support a model of SCZ pathogenesis involving multiple rare structural variants. The study highlights the importance of rare CNVs in the etiology of SCZ and suggests that some cases of SCZ may be "genomic disorders."The International Schizophrenia Consortium (ISC) conducted a genome-wide survey of rare copy number variants (CNVs) in 3,391 patients with schizophrenia (SCZ) and 3,181 matched controls using high-density microarrays. They found that the total burden of CNVs, particularly rarer single-occurrence CNVs and those involving genes, was increased in SCZ patients compared to controls (P=3×10^-5; 1.15-fold increase). Specific regions associated with SCZ included the 22q11.2 region, which harbors genes implicated in psychotic symptoms, and large deletions on chromosomes 15q13.2 and 1q21.1. These findings support a model of SCZ pathogenesis involving multiple rare structural variants. The study highlights the importance of rare CNVs in the etiology of SCZ and suggests that some cases of SCZ may be "genomic disorders."
Reach us at info@study.space