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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài:Common variants in polygenic schizophrenia. | X Genome Biology Minireview Common variants in polygenic schizophrenia Joseph T Glessner and Hakon Hakonarsont Addresses Center for Applied Genomics The Children s Hospital of Philadelphia Philadelphia PA 19104 USA. Division of Human Genetics Department of Pediatrics The Children s Hospital of Philadelphia University of Pennsylvania School of Medicine Philadelphia PA 19104 uSa. Correspondence Hakon Hakonarson. Email hakonarson@chop.edu Abstract Common variant single-nucleotide polymorphisms at the MHC locus have recently been associated with schizophrenia. Together with known associations with rare copy-number variants affecting many genes this reveals the highly polygenic etiology of the disease. Schizophrenia is a devastating mental disorder characterized by reality distortion. Common features are positive symptoms of hallucination delusion disorganized speech and abnormal thought process negative symptoms of social deficit lack of motivation inability to experience pleasure impaired emotion processing and cognitive deficit. Onset of symptoms typically occurs in late adolescence or early adulthood with approximately 0.5 to 1 of the population affected and heritability estimated at 80 1 . However despite strong genetic support for herita-bility little progress has been made in uncovering the genetic factors involved in schizophrenia. The utilization of single nucleotide polymorphisms SNPs from DNA sequencing projects such as the Human Genome Project 2 and the 1000 Genomes Project 3 has enabled genome-wide genotyping of between 0.5 and 2 million variations across large sample sets. Studies of linkage disequilibrium have been used to generate haplotypes to inform the genotypes of untyped SNPs by reference to genotyped SNPs. Such studies face many genetic computational and statistical challenges. The mass of human variation created by evolutionary lineage and population stratification confounds the analysis of large populations and genomic control must be used to .
