Rare chromosomal deletions and duplications increase risk of schizophrenia
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DOI: 10.1038/NATURE07239
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摘要: Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with heritability estimated at 73 - 90% ( ref. 1). Inheritance patterns are complex, the number type of genetic variants involved not understood. Copy CNVs) have been identified in individual patients schizophrenia(2-7) also neurodevelopmental disorders(8-11), but large- scale genome- wide surveys performed. Here we report survey rare CNVs 3,391 schizophrenia 3,181 ancestrally matched controls, using high- density microarrays. For that were observed less than 1% sample more 100 kilobases length, total burden increased 1.15- fold comparison controls. This effect was pronounced for rarer, single- occurrence those genes as opposed to did not. As expected, deletions found within region critical velo- cardio- facial syndrome, which includes psychotic symptoms 30% patients(12). Associations large on chromosome 15q13.3 1q21.1. These associations previously reported, they remained significant after correction. Our results provide strong support model pathogenesis effects multiple structural variants, both specific loci.
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