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. 2016;21(1):68-72.
doi: 10.3109/1354750X.2015.1118535. Epub 2015 Dec 8.

Genetic variation in vitamin D receptor gene (Fok1:rs2228570) is associated with risk of coronary artery disease

Mohamed A Abu El Maaty  1 , Sally I Hassanein  2 , Mohamed Z Gad  2
Affiliations

Genetic variation in vitamin D receptor gene (Fok1:rs2228570) is associated with risk of coronary artery disease

Mohamed A Abu El Maaty et al. Biomarkers. 2016.

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.

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