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Korean J Schizophr Res > Volume 16(1); 2013 > Article
Korean Journal of Schizophrenia Research 2013;16(1):5-13.
DOI: https://doi.org/10.16946/kjsr.2013.16.1.5    Published online April 30, 2013.
Recent Updates in Schizophrenia Genetics.
Hee Jeong Jeong, Byung Dae Lee, Je Min Park, Young Min Lee, Eunsoo Moon
1Department of Psychiatry, Pusan National University Hospital, Busan, Korea. bdlee@pusan.ac.kr
2Department of Psychiatry, Pusan National University College of Medicine, Busan, Korea.
3Medical Research Institute, Pusan National University Hospital, Busan, Korea.
Schizophrenia is a devastating mental illness that can lead to deterioration in the social and occupational functioning of affected individuals with a major cost to society. A wide range of studies suggest a genetic component to the inheritance of schizophrenia. The molecular genetic studies on schizophrenia have been actively performed since late 1980s. In linkage studies, no loci were replicated across studies and there were no loci surpassing genome-wide significance. Candidate gene association studies showed generally inconsistent results and there were no enrichment of smaller P-values. In the GWAS era, the community has coalesced into large international consortia. The largest schizophrenia GWAS to date is 50,000 samples and efforts are ongoing to accumulate 50,000 cases and 50,000 controls as part of 'PGC2' collaboration. With the limitation of GWAS results, several alternatives are being explored. In genotyping, the concepts of allelic spectrum including from common polygenic to rare penetrant variation are emerging. Phenotypes include all phenomena beyond DNA. The developments in transcriptomic & proteomic approach and intensive research on endophenotype will bring crucial insights into the nature of schizophrenia in the future. But there still remains our task about research on many factors including environment that influence gene expression (epigenetics), age, and gender.
Key Words: Schizophrenia · GWAS · Allelic spectrum · Sequencing · Epigenetics
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