Heterogeneity of schizophrenia: Genetic and symptomatic factors
Article first published online: 17 OCT 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Special Issue: Identifying the Origins of Mental Illness: A Festschrift in Honor of Ming T. Tsuang
Volume 162, Issue 7, pages 648–652, October 2013
How to Cite
2013. Heterogeneity of Schizophrenia: Genetic and Symptomatic Factors. Am J Med Genet Part B 162B:648–652..
- Issue published online: 17 OCT 2013
- Article first published online: 17 OCT 2013
- Manuscript Accepted: 14 MAR 2013
- Manuscript Received: 27 DEC 2012
- copy number variant;
- sample stratification approach
Schizophrenia may have etiological heterogeneity, and may reflect common symptomatology caused by many genetic and environmental factors. In this review, we show the potential existence of heterogeneity in schizophrenia based on the results of our previous studies. In our study of the NOTCH4 gene, there were no significant associations between any single nucleotide polymorphisms (SNPs) of NOTCH4 and schizophrenia. However, exploratory analyses suggested that the SNP, rs3134928 may be associated with early-onset schizophrenia, and that rs387071 may be associated with schizophrenia characterized by negative symptoms. In our highly familial schizophrenia study, the African-American cohort without environmental exposure showed a possible linkage at marker 8p23.1 in the dominant model and in the European-American cohort, a marker at 22q13.32 showed a probable linkage in the recessive model. In the less familial schizophrenia families, these linkages were not shown. Based on our eye movement study, a putative subtype of schizophrenia with severe symptoms related to excitement/hostility, negative symptoms and disorganization may be associated with chromosome 22q11. We consider that a sample stratification approach may clarify the heterogeneity of schizophrenia. Therefore, this approach may lead to a more straightforward way of identifying susceptibility genes of schizophrenia. © 2013 Wiley Periodicals, Inc.