Medical SpecialtyOpen Access

Vitamin D receptor gene polymorphism in familial multiple sclerosis patients

2016
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Advisor: Doç. Dr. Özden Kamışlı ; Prof. Dr. Abdulcemal Özcan

Abstract (EN)

Objectives: Multiple sclerosis is a chronical demyelinating disease of central nervous system, mostly causing disability on young and middle age adults. It is considered that on the multiple sclerosis pathogenesis there are genetic and environmental factors and in particular t-cell-mediated autoimmunity. Vitamin D is a potantial modulator of immune system and its effects are seen via vitamin D receptors (VDR). VDR polymorphisms may generate modifications on the metabolic and functional effects of vitamin D. Many of studies have been performed relating to VDR single gene polymorphism and MS relation in many counties on literature; it isn't familial MS property. With this study it is intended to be researched if there is any relation between VDR gene and Taq I, Apa I and Fok Ion polymorphisms on the familial MS patients in our region. Material and Method: 29 MS patients, monitoring in our clinic from 2009 to 2016, at the range of 18-60 ages and having a MS background on their family history and 120 controls on 18-60 ages were included in our study. 2 cc venous blood samples were received from patient and control group. DNA isolation, DNA concentration measurement and genotyping processes were performed. Population was divided by patient and control group. Comparing of patient-control, woman patient-woman control and man patient-man control genotype was performed. Results: A meaningful difference was determined between patient group and contol group on VDR Taq I polymorphism analysis. GG genotype wasn't be determined on the patient group, it was available on the control group (p:0.025). While the results were meaningful on the patient-woman control group (p:0,028), meaningful results weren't be obtained on the patient-man control group (p:0,079). On the VDR Fok I polymorphism analysis, meaningful difference wasn't be determined among AA-AG-GG genotypes between patients and control groups (p:0,042), meaningful diffenece wasn't be available between woman patients ans controls (p:0.658) and man patients anc controls (p:0,517). For VDR Apa I polymorphism, meaningful difference wasn't be determined among AA-AC-CC genotypes between control and patients (p:0.956), meaningful diffenece wasn't be available between woman patients ans controls (p:0,383) and man patients anc controls (p:0,273). Conclusion: Taq I polymorphism on familial MS patients in our region may create liability to disease. Any relation wasn't be determined between Apa I and Fok I polymorphisms and MS. Consequently, in order to be determined vitamin D receptor gene polymorphisms, may create liability to multiple sclerosis on Turkish population, it needs to be performed new studies with larger patient groups and other autoimmunitydiseases.

Author

Dr. Fatma Ebru Yücel

How to Cite

Fatma Ebru Yücel (Medical Specialty Thesis). Vitamin D receptor gene polymorphism in familial multiple sclerosis patients, 2016, İnönü University.

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