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

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 along...

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Hauptverfasser: Abu El Maaty, Mohamed A. (VerfasserIn) , Hassanein, Sally I. (VerfasserIn) , Gad, Mohamed Z. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2016
In: Biomarkers
Year: 2015, Jahrgang: 21, Heft: 1, Pages: 68-72
ISSN:1366-5804
DOI:10.3109/1354750X.2015.1118535
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3109/1354750X.2015.1118535
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Verfasserangaben:Mohamed A. Abu el Maaty, Sally I. Hassanein, Mohamed Z. Gad

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520 |a 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. 
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