TY - JOUR TI - Identifying SNP correlates of a schizophrenia subtype characterized by poor premorbid functioning and perceptual organization deficits DO - https://doi.org/doi:10.7282/T3H41PG2 PY - 2013 AB - Schizophrenia has been defined as a neurodevelopmental disorder (Weinberger, 1987; Lewis & Levitt, 2002; Javitt & Coyle, 2004). The etiology of schizophrenia is thought to be comprised of a combination of genetic and environmental components. Although the estimated heritability of schizophrenia is 80% (Sullivan et al., 2003); well-known (e.g. psychosocial stressors) and unknown environmental factors have a significant role in the development of this disorder. These factors subsequently lead to epigenetic and neurochemical changes affecting brain structure and function; thus also characterizing schizophrenia as a neural circuitry disorder (Friston & Firth, 1995; Benes, 2000; Lisman et al., 2008). Visual perceptual organization and premorbid social-sexual functioning impairments are significant cognitive and social deficit traits that are found in many individuals with schizophrenia, and that are strongly correlated with each other. However, the relationship between these phenotypes and the genetic etiology of schizophrenia is not known. Furthermore, clarification of this issue is complicated by heterogeneity of perceptual and social history functioning in the disorder. Therefore, the aim of this study was to reduce heterogeneity compared to past studies by determining association of this combined phenotype to single nucleotide polymorphisms (SNPs) in genes associated with glutamatergic and GABAergic neurotransmitter systems; the primary hypothesized neurocircuitry of visual perceptual organization in schizophrenia. A combination of clinical assessments, a battery of visual perceptual organization tasks and saliva samples were ascertained in order to determine links between selected phenotypes and genotypes. The observed relationships among perceptual, clinical, demographic variables are consistent with past findings suggesting a possible patient subtype with poor premorbid social sexual functioning, significant disorganized symptoms, and abnormal visual perceptual functioning. While the contribution of specific SNPs to these phenotypes has not been definitively clarified, the psychosocial developmental and perceptual organization factors analyzed are suggested to interact in schizophrenia spectrum populations and thought to be related to the genetic liability of schizophrenia. Overall, the study data suggest that further study of well-defined phenotypes and potentially associated genetic variants may be useful for future studies in schizophrenia spectrum populations that aim to develop personalized treatments. KW - Neuroscience KW - Schizophrenia--Etiology LA - eng ER -