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Genetic variation in vitamin D receptor gene (Fok1:rs2228570) is associated with risk of coronary artery disease |
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| Authors: | Mohamed A. Abu el Maaty Sally I. Hassanein Mohamed Z. Gad |
| Affiliation: | 1. Institute of Pharmacy and Molecular Biotechnology, Ruprecht-Karls-Universit?t Heidelberg, Heidelberg, Germany and abu.el.maaty@gmail.com;3. Clinical Biochemistry Unit, Biochemistry Department, Faculty of Pharmacy and Biotechnology, German University in Cairo, New Cairo City, Egypt |
| Abstract: | Objective: The Fok1 polymorphism (rs2228570) in vitamin D receptor gene appears to be the only polymorphism influencing size of translated protein. Investigations into its association with coronary artery disease (CAD) are sparse.Methods: Male patients (n?=?98) with verified CAD were recruited alongside age- and sex-matched controls (n?=?55). Genotyping was performed by PCR-RFLP and plasma 25-Hydroxyvitamin D levels were assessed by HPLC-UV.Results: The C-variant (mutant) was predominantly expressed in patients compared to controls (68.9% versus 55.5%; p?=?0.025). The observed genotypes were not associated with 25-Hydroxyvitamin D levels.Conclusion: This study presents Fok1 polymorphism as a potential genetic marker for CAD. |
| Keywords: | Coronary artery disease Fok1 gene polymorphism vitamin D receptor |