title: Genetic variation in vitamin D receptor gene (Fok1:rs2228570) is associated with risk of coronary artery disease.
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.
  
  
  CONCLUSIONS
  This study presents Fok1 polymorphism as a potential genetic marker for CAD.
authors.affiliation: a Institute of Pharmacy and Molecular Biotechnology, Ruprecht-Karls-Universität Heidelberg , Heidelberg , Germany and.
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Abu El Maaty
authors.affiliation: b Clinical Biochemistry Unit, Biochemistry Department, Faculty of Pharmacy and Biotechnology, German University in Cairo , New Cairo City , Egypt.
authors.forename: Sally I
authors.initials: SI
authors.lastname: Hassanein
authors.affiliation: b Clinical Biochemistry Unit, Biochemistry Department, Faculty of Pharmacy and Biotechnology, German University in Cairo , New Cairo City , Egypt.
authors.forename: Mohamed Z
authors.initials: MZ
authors.lastname: Gad
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human
keywords: Coronary artery disease; Fok1; gene polymorphism; vitamin D receptor