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

作者：Abu el Maaty Mohamed A^*; Hassanein Sally I; Gad Mohamed Z

来源：Biomarkers, 2016, 21(1): 68-72.

DOI：10.3109/1354750X.2015.1118535

• gene polymorphism
• Fok1
• vitamin D receptor
• 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 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.

• 出版日期2016-1-2