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

• Verfasst von: Abu El Maaty, Mohamed A. [VerfasserIn]
• Verfasst von: Hassanein, Sally I. [VerfasserIn]
• Verfasst von: Gad, Mohamed Z. [VerfasserIn]
• Titel: Genetic variation in vitamin D receptor gene (Fok1:rs2228570) is associated with risk of coronary artery disease
• Verf.angabe: Mohamed A. Abu el Maaty, Sally I. Hassanein, Mohamed Z. Gad
• Jahr: 2016
• Jahr des Originals: 2015
• Umfang: 5 S.
• Fussnoten: Published online: 08 Dec 2015 ; Gesehen am 14.10.2020
• Titel Quelle: Enthalten in: Biomarkers
• Ort Quelle: London : Taylor & Francis, 1996
• Jahr Quelle: 2016
• Band/Heft Quelle: 21(2016), 1, Seite 68-72
• ISSN Quelle: 1366-5804
• DOI: doi:10.3109/1354750X.2015.1118535
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Coronary artery disease
• Sach-SW: Fok1
• Sach-SW: gene polymorphism
• Sach-SW: vitamin D receptor
• K10plus-PPN: 1735557684

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.