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W poszukiwaniu genów schizofrenii

Keywords: schizophrenia , genetics , association studies

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Abstract:

The pathogenesis of schizophrenia involvesthe interaction of many genes and environmental factors.In an effort to find potential genetic risk factors forschizophrenia, research groups have published over1200 genetic association studies with inconsistentresults. Also GWAS have been published, and newgenes have been identified, although replication studiesare necessary. To facilitate the interpretation of thesefindings, the on-line “SzGene” database systematicallyupdated all published genetic studies in schizophrenia.A meta-analysis of association studies showed significanteffects in 16 genes (APOE, COMT, DAO, DRD1,DRD2, DRD4, DTNBP1, GABRB2, GABRB2B, HP,IL1B, MTHFR, PLXNA2, SCLC6A4, TP53 and TPH1).The elucidation of the genotype-phenotype relationshipis at an early stage, but current findings highlightthe need to consider alternative approaches toclassification for psychiatric genetic research. Ourunderstanding of brain mechanisms that link specificgene actions and products to the subjective experienceof psychopathological symptoms is likely to be bridgedby employing intermediate phenotypes in domains suchas cognition, neuropsychology and neuroanatomy.

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