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• W2428517078 abstract "The importance of genetic factors in the etiology of schizophrenia was originally established by family, twin, and adoption studies. Such studies suggest that 70–90% of the variance in risk for schizophrenia can be explained by genetic factors. That conclusion has led investigators to conduct a large number of genetic linkage and association studies, which attempt to identify regions of the genome (linkage studies) or specific genes and polymorphisms (association studies) contributing to the risk for schizophrenia. Early linkage studies did not yield results that replicated, but more recent studies have supported several genomic regions as contributory to risk for schizophrenia, including regions on chromosomes 1q, 6p, 8p, 13q, and 22q. Meta-analyses examining multiple large linkage studies have further suggested additional regions of linkage to schizophrenia. Follow-up studies have identified several strong candidate loci supported by those linkage findings, including NOSAP1 and RGS4 (1q), DNTBP1 (6p), NRG1 (8p), and G72/G30 (13q). Research on chromosomal disorders has also contributed importantly to identification of schizophrenia candidate genes. DISC1 (“disrupted in schizophrenia-1”) was discovered in a large family co-segregating a translocation between chromosomes 1q and 11q with schizophrenia and several other brain disorders. The translocation break point on chromosome 1 disrupted a previously unknown gene that has subsequently been shown to play a variety of important roles in neural development and regulation of synaptic signaling. The 22q11 deletion syndrome, in which up to 30% of adults with the chromosomal disorder also meet criteria for a schizophrenia-spectrum psychotic disorder, has also contributed importantly to our understanding of the genetic basis for schizophrenia. Approximately 0.5% of the schizophrenic adult population is estimated to carry a microdeletion in this region of the genome. Genetic association studies of schizophrenia, like linkage studies, initially produced a huge number of claims of association of specific polymorphisms to schizophrenia, with almost all such claims failing to replicate consistently. There are thus thousands of studies in the literature that in retrospect were underpowered and failed to interrogate genes comprehensively. More recently, however, relatively large associations in which hundreds of thousands of single nucleotide polymorphisms (SNPs) have been typed have been published. Although none of those studies yielded genomewide significant results by the most stringent criteria, at least it is becoming somewhat clearer just how small the effects of individual SNPs are (odds ratio < 1.1), which in turn suggests that even larger studies, with more than 12 000 cases and controls, are necessary for adequate statistical power. Those genomewide SNP studies have contributed to a growing body of evidence supporting a role of copy number variants (CNVs) in schizophrenia. CNVs are polymorphic variants in which large stretches of genome (up to several megabases) are deleted or present in more than one copy on a chromosome. Such variants, which appear to associate more frequently with sporadic than familial schizophrenia cases, exert much greater penetrant effects than SNPs on the risk for schizophrenia. As molecular genetic studies have become more sophisticated and better designed, an emerging principle is that common genetic factors may contribute to schizophrenia and bipolar disorder, thus challenging the traditional kraepelinian distinction between the major idiopathic psychoses. Further research into the molecular genetics of schizophrenia promises to shed increasing light on developmental and cellular mechanisms contributing to schizophrenia." @default.
• W2428517078 created "2016-06-24" @default.
• W2428517078 creator A5024834061 @default.
• W2428517078 creator A5025251150 @default.
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• W2428517078 date "2012-01-01" @default.
• W2428517078 modified "2023-09-25" @default.
• W2428517078 title "Human genetics of schizophrenia" @default.
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