Investigation of KLOTHO and VDR gene polymorphisms in chronic kidney disease
2012
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Advisor: Yrd. Doç. Dr. S. Handan Yıldız
Abstract (EN)
Investigation of KLOTHO and VDR Gene Polymorphisms in Chronic Kidney DiseaseChronic Kidney Disease (CKD) is a common public health problem with bad prognosis and high cost whose incidence and prevalence increase continuously. In addition, it is an important cause of morbidity and mortality. It was proven in many studies that combination of susceptibility genes of Chronic Kidney Disease with environmental and hereditary factors is important for prognosis of the disease.Aim of this study is to determine the incidence of G395A and C1818T polymorphisms of KLOTHO gene and ApaI and TaqI polymorphisms of Vitamin D gene among case and control groups and to establish the relation between corresponding polymorphisms and Chronic Kidney Disease. Also it aims to investigate the effect of given polymorphisms on etiology of the disease by evaluating relation between various relevant biochemical parameters and these polymorphisms.C1818T and G395A SNP?s of KLOTHO gene were studied by using DNA sequence analysis and ApaI and TaqI SNP?s of VDR gene were analyzed by PCR-RFLP method for CKD diagnosed 104 patient with the average age of 56.76±1.22 and for 104 control group with the average age of 49.13±1.00.In this study, ApaI (rs7975232) SNP genotype distribution of VDR gene for 104 Chronic Kidney Disease patient was determined as %42.3 AA, %34.6 Aa, %23.1 aa, while TaqI (rs731236) SNP genotype distribution was determined as %50 TT, %39.4 Tt, %10.6 tt. C1818T SNP genotype distribution of Klotho gene was found as %41.3 CC, %47.1 CT, %11.5 TT and G395A SNP genotype distribution was attained as %40,4 GG, %55.8 GA, %3.8 AA.In conclusion, many series of data have been evaluated in this study and ApaI polymorphism of VDR gene was found meaningfully high for case group compare to control group. Also, new and valuable information were obtained for the relation of both KLOTHO and VDR gene polymorphisms with Chronic Kidney Disease.Keywords: Chronic Kidney Disease, KLOTHO, VDR, Polymorphism.
Author
Dr. Kuyaş Hekimler Öztürk
How to Cite
Kuyaş Hekimler Öztürk (Doctorate thesis). Investigation of KLOTHO and VDR gene polymorphisms in chronic kidney disease, 2012, Afyon Kocatepe University.
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