Angptl8 rs2278426 (C/T) ve rs892066 (C/G) polimorfizmlerinin Türk toplumundaki diyabetik retinopati hastalarıyla ilişkisi
2022
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Advisor: Dr. Öğr. Üyesi Nihan Bozkurt
Abstract (EN)
Diabetes is a metabolic disease that can cause damage to many organs, and one of the organs it damages is the eye. Diabetic Retinopathy (DR), which is the most common diabetes-related eye disease, is an important cause of blindness in adults and occurs with the deterioration of the vascular structure in the retinal layer, and it is an insidious disease because it does not show any symptoms in the early stages. The exact aetiology of DR is still not fully understood in studies conducted to date. Evidence obtained as a result of studies suggests that genetic factors may play an important role in the pathogenic mechanism of this disease. Angiopoietin-like protein 8 (ANGPTL8) is a peptide-structured hormone secreted from white and brown adipose tissue, mainly from the liver. It is a gene located in the relevant intron of DOCK6, expressed (c19orf80), located on chromosome 19th. ANGPTL8 or betatrophin, first identified in 2012, has been identified as a new member of the glycoprotein due to its secretory role in lipid metabolism. It is abundantly expressed in the human liver. It has also been stated that ANGPTL8 is a protein associated with glucose and lipid metabolism. Therefore, we examined the association of ANGPTL8 rs2278426 (C/T) and rs892066 (C/G) polymorphisms with DR risk. 104-patients experimental group with retinopathy due to T2DM and the 102-patients control group of similar age and gender, who did not have retinopathy due to any cause, were not obese, did not have diabetes, did not have comorbidities and lipid metabolism disorders were formed. After the DNA isolation of the samples, the results were obtained by working with appropriate kits and Real-time PCR. It was determined that 46% of DR patients were male and 54% were female. In our study, a positive correlation was found between the rs2278426 allele of the ANGPTL8 gene and the rs892066 allele, but we did not observe a significant relationship between DR and control in terms of genotype and allele distribution of the ANGPTL8 gene. A significant correlation was found between diabetes year, patients using insulin and the rs2278426 (p<0.019). Insulin use and high diabetes years in patients with mutant rs2278426 allele suggest that this may be an important factor in the development of DR.
Author
Dr. Kürşat Kargün
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Kürşat Kargün (Master Thesis). Angptl8 rs2278426 (C/T) ve rs892066 (C/G) polimorfizmlerinin Türk toplumundaki diyabetik retinopati hastalarıyla ilişkisi, 2022, Tokat Gaziosmanpaşa Üniversity.
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