1. Genetic polymorphisms of vitamin D3 metabolizing CYP24A1 and CYP2R1 enzymes in Turkish patients with ischemic stroke
- Author
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Birsen Can Demirdöğen, Orhan Adali, Tuğçe Öner, Şeref Demirkaya, Aysun Türkanoğlu Özçelik, Vedat Semai Bek, TOBB ETÜ, Mühendislik Fakültesi, Biyomedikal Mühendisliği Bölümü, TOBB ETU, Faculty of Engineering, Department of Biomedical Engineering, and Can Demirdöğen, Birsen
- Subjects
Male ,Turkey ,Single-nucleotide polymorphism ,Comorbidity ,030204 cardiovascular system & hematology ,Bioinformatics ,Polymorphism, Single Nucleotide ,White People ,Brain Ischemia ,03 medical and health sciences ,0302 clinical medicine ,Gene Frequency ,Genotype ,medicine ,Vitamin D and neurology ,SNP ,Humans ,Genetic Predisposition to Disease ,Risk factor ,Vitamin D ,Cytochrome P450 Family 2 ,Vitamin D3 24-Hydroxylase ,Allele frequency ,Stroke ,Genetic Association Studies ,Aged ,business.industry ,General Medicine ,Middle Aged ,medicine.disease ,Genotype frequency ,Single nucleotide polymorphism ,Logistic Models ,CYP24A1 ,Neurology ,Case-Control Studies ,CYP2R1 ,Cholestanetriol 26-Monooxygenase ,Female ,Neurology (clinical) ,business ,İschemic stroke ,030217 neurology & neurosurgery - Abstract
Objective: Vitamin D deficiency is known as an important risk factor in pathogenesis of atherosclerosis, which contributes to stroke development. Genetic variations including single nucleotide polymorphisms (SNPs) in enzymes involved in vitamin D metabolism can affect susceptibility to the development of stroke. Therefore, the objective of this study was to investigate the association between polymorphisms of vitamin D metabolizing enzymes (rs927650 SNP in CYP24A1, and rs10741657 SNP in CYP2R1 genes,) and ischemic stroke risk in Turkish population. Materials and methods: To test this hypothesis, we designed a case-control study which consisted of 256 ischemic stroke patients and 132 controls. Genotypes were determined by PCR-RFLP technique. Results: No significant differences were found between patients and controls in terms of CYP24A1 rs927650 and CYP2R1 rs10741657 genotype frequencies. Polymorphic allele frequencies of CYP24A1 rs927650 and CYP2R1 rs10741657 were 0.414 and 0.660 in stroke patients, respectively. Conclusion: This is the first study conducted regarding the association of CYP24A1 rs927650 and CYP2R1 rs10741657 genetic polymorphisms and ischemic stroke risk. The polymorphic genotypes of these polymorphisms, together with hypertension, diabetes, smoking, and obesity, were found as significant risk factors for ischemic stroke.
- Published
- 2018