Investigation of schizophrenia related genes and pathways through genome wide association studies

Döm, Hüseyin Alper
Schizophrenia is a complex mental disorder that is commonly characterized as deterioration of intellectual process and emotional responses and affects 1% of any given population. SNPs are single nucleotide changes that take place in DNA sequences and establish the major percentage of genomic variations. In this study, our goal was to identify SNPs as genomic markers that are related with schizophrenia and investigate the genes and pathways that are identified through the analysis of SNPs. Genome wide association studies (GWAS) analyse the whole genome of case and control groups to identify genetic variations and search for related markers, like SNPs. GWASs are the most common method to investigate genetic causes of a complex disease such as v schizophrenia because regular linkage studies are not sufficient. Out of 909,622 SNPs analysis of the dbGAP Schizophrenia genotyping data identified 25,555 SNPs with a p-value 5x10-5. Next, combined p-value approach to identify associated genes and pathways and AHP based prioritization to select biologically relevant SNPs with high statistical association are used through METU-SNP software. 6,000 SNPs had an AHP score above 0.4, which mapped to 2,500 genes suggested to be associated with schizophrenia and related conditions. In addition to previously described neurological pathways, pathway and network analysis showed enrichment of two pathways. Melanogenesis and vascular smooth muscle contraction pathways were found to be highly associated with schizophrenia. We have also shown that these pathways can be organized in one biological network, which might have a role in the molecular etiology of schizophrenia. Overall analysis results revealed two novel candidate genes SOS1 and GUCY1B3 that have a possible relation with schizophrenia.


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Alınmış, Raziye Kıvılcım; Fışıloğlu, Hürol; Department of Psychology (2011)
This study aimed to explore the relationship among self-esteem, problem solving ability, ways of coping, social support and suicidal ideation of patients with schizophrenia and the differences between these variables according to the existence of suicide attempt of the patients with schizophrenia. In order to analyse the relationship and find out the differences among patients who did and did not attempt suicide, Rosenberg's Self Esteem Scale, Problem Solving Inventory, Turkish Ways of Coping Inventory, Mul...
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Background: Schizophrenia is a chronic mental illness that strongly affects not only the patients with schizophrenia, but also their families and close relatives. So far, family research on patients with schizophrenia has mainly focused on parents, but has neglected siblings. Aim: This study aims to evaluate the well-being of 103 siblings of patients with schizophrenia within the Lazarus and Folkman's Transactional Coping and Stress Model. Materials: A Sociodemographic Information Form, Subjective Well-bein...
Evaluation of Whole Genome Association Study Data in Bipolar Disorders: Potential Novel SNPs and Genes
CENGİZ HAN, Açıkel; Aydın Son, Yeşim; ÇELİK, Cemil; RECEP, Tütüncü (2015-03-01)
Objective: As a result of studies of multifactorial conditions, genetic, physiological and environmental factors, the overall heritability of bipolar disorders has been estimated to be up to 70%. In this study, an analysis of genome-wide association study data using data mining algorithms has revealed single-nucleotide polymorphisms that may be the basis for the molecular etiology of bipolar disorders.
Replicated evidence that endophenotypic expression of schizophrenia polygenic risk is greater in healthy siblings of patients compared to controls, suggesting gene-environment interaction. The EUGEI study
van Os, Jim; et. al. (Cambridge University Press (CUP), 2020-08-01)
Background First-degree relatives of patients with psychotic disorder have higher levels of polygenic risk (PRS) for schizophrenia and higher levels of intermediate phenotypes. Methods We conducted, using two different samples for discovery (n= 336 controls and 649 siblings of patients with psychotic disorder) and replication (n= 1208 controls and 1106 siblings), an analysis of association between PRS on the one hand and psychopathological and cognitive intermediate phenotypes of schizophrenia on the other ...
Living with schizophrenia: Perspectives of Turkish people with schizophrenia from two Patient Associations on how the illness affects their lives
Karancı, Ayşe Nuray; Kumpasoğlu, Güler Beril; Can, Demet; Cakir, Ekin; Karaaslan, Cemrenur; Semerci, Mine; Tuzun, Duygu (2019-03-01)
Background: Schizophrenia is a chronic mental illness affecting the social and occupational lives of the sufferers and posing a considerable burden on the patients and their families. Furthermore, negative societal reactions and the internalization of these attitudes exacerbate the difficulties encountered. This study examines the perspectives of Turkish people with schizophrenia on how they view the impact of the illness on their lives, the societal reactions and attitudes to schizophrenia and whether they...
Citation Formats
H. A. Döm, “Investigation of schizophrenia related genes and pathways through genome wide association studies,” M.S. - Master of Science, Middle East Technical University, 2013.