Investigation of the relation of single nucleotide polymorphism of RS1026882 in ERBB4 gene with schizophrenia disease
2020
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Advisor: Prof. Dr. Şükrü Kartalcı
Abstract (EN)
Aim: Schizophrenia is a multifactorial disease with a genetic component and it does not show Mendel type inheritance indications. Investigation of single nucleotide polymorphisms of candidate genes may provide insight into the risk factors involved in the development of schizophrenia. The human ERBB4 (v-erb-a erithroblastic leukemia viral oncogene homology 4) gene is thought to play a role in the development of schizophrenia. Although some association, expression and animal studies have shown that some single nucleotide polymorphisms (SNPs) in the ERBB4 gene are associated with disease, the results of studies in other populations have not been the same. In this study, we aimed to obtain data about the role of ERBB4 rs1026882 SNP on the occurrence of schizophrenia and clinical phenotypes in a Turkish patient group. Material and Method: A total of 96 healthy patients who were treated as outpatients or inpatients in the psychiatry outpatient clinic and diagnosed with schizophrenia according to DSM 5 criteria were included in the study as 100 healthy volunteers. 3 cc blood samples were collected from 2 EDTA tubes from each patient and control group. Sociodemographic data form, Positive Symptoms Assessment Scale(SAPS) and Negative Symptoms Assessment Scale(SANS), Brief psychiatric rating scale(BPRS), General assessment of functionality scales(GAS) were applied to 96 patients who were taken blood. SNP genotyping was performed by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. Patient and control groups were compared for possible differences between genotype and allele distributions. Results: Our patient-control study showed that there was no significant difference between patient and control groups in terms of genotypic and allelic distribution of rs1026882 SNP. In this study, we could not find sufficient evidence to support the existence of the relationship between schizophrenia and related SNP. We found that some genotypes of ERBB4 SNP1026882 were associated with active suicidal ideation and SANS scale energy and interest in schizophrenia patients. Conclusion: Our findings show that the investigated ERBB4 gene polymorphism has no effect on the sensitivity of schizophrenia, but may contribute to the negative symptoms of the disease. In larger populations, it is useful to investigate the genotype-phenotype relationship with different diagnostic methods within more homogeneous subgroups.
Author
Dr. Özgü Topaktaş Yıldırım
How to Cite
Özgü Topaktaş Yıldırım (Medical Specialty Thesis). Investigation of the relation of single nucleotide polymorphism of RS1026882 in ERBB4 gene with schizophrenia disease, 2020, İnönü University.
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