Finding Genes for Schizophrenia

Schizophrenia is one of our most common psychiatric diseases. It severely affects all aspects of psychological functions and results in loss of contact with reality. No cure exists and the treatments available today produce only partial relief for disease symptoms. The aim of this work is to better understand the etiology of schizophrenia by identification of candidate genes and gene pathways involved in the development of the disease.In a preliminarily study, the effects of medication and genetic factors were investigated in a candidate gene, serotonin 2C receptor. This study distinguished pharmacological effects, caused by neuroleptics, and/or genetic effects, caused by unique polymorphisms, from other effects responsible for mRNA expression changes on candidate genes.The core of the thesis describes a new candidate gene for schizophrenia, the quaking homolog, KH domain RNA binding (mouse) or QKI, located on chromosome 6q26-q27…


Schizophrenia – a severe disease that affects the function of the brain
Prevalence differences
Standardized diagnostic methods
Medical treatment
Genetic risk factors
Proceedings in schizophrenia research
Candidate genes found by linkage and association studies
Candidate genes/pathways found by mRNA investigations
Hypotheses in concordance with genetic findings
Involvement of neurotransmitter systems in schizophrenia
Involvement of myelin in schizophrenia
Basic concepts of statistical genetics
Genetic linkage
Linkage disequilibrium
Linkage analysis versus association analyses
Haplotype investigations
Research Aims
Aims for included papers
Present Investigations
Paper I – Serotonin Receptor 2C (HTR2C) and Schizophrenia: Examination of Possible Medication and Genetic Influences on
Expression Levels
Paper II – Reconstruction of ancestral haplotypes in a 12-generation schizophrenia pedigree
Paper III – Human QKI, a New Candidate Gene for Schizophrenia Involved in Myelination
Paper IV – Human QKI, a Potential Regulator of mRNA Expression in Myelin Specific Genes Involved in Schizophrenia
Paper V – Genome Wide Investigation of an Isolated Schizophrenia
Population Using Dense Maps of Microsatellites and SNPs in Combination

Author: Aberg, Karolina

Source: Uppsala University Library

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