title: Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence.
abstract: OBJECTIVE
  To investigate the relationship between the rs10741657 and rs12794714 polymorphisms in the CYP2R1 gene, 25(OH)D levels, and coronary artery disease (CAD) incidence.
  
  
  METHODS
  In total, 134 male patients with verified CAD were recruited, alongside 109 age- and sex-matched controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism, using the corresponding restriction enzyme for each polymorphism, whereas 25(OH)D levels were analyzed by HPLC-UV.
  
  
  RESULTS
  25(OH)D levels were significantly lower in patients. The genotypic and allelic distributions of the rs10741657 polymorphism were significantly different between patients and controls, whereas insignificant results were obtained for the rs12794714 polymorphism. Furthermore, rs10741657, but not rs12794714, predicted 25(OH)D levels.
  
  
  CONCLUSIONS
  The rs10741657 polymorphism is a novel genetic marker for CAD.
authors.affiliation: Faculty of Pharmacy and Biotechnology, Biochemistry Department, German University in Cairo (GUC) , Cairo , Egypt and.
authors.forename: Sally I
authors.initials: SI
authors.lastname: Hassanein
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Abu El Maaty
authors.forename: Hameis M
authors.initials: HM
authors.lastname: Sleem
authors.forename: Mohamed Z
authors.initials: MZ
authors.lastname: Gad
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D003324:Coronary Artery Disease / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D000072467:Cytochrome P450 Family 2; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood
chemical_list: D014807:Vitamin D; C104450:25-hydroxyvitamin D; D000072467:Cytochrome P450 Family 2; C506833:CYP2R1 protein, human; D053493:Cholestanetriol 26-Monooxygenase
keywords: CYP2R1 gene; Coronary artery disease; single nucleotide polymorphisms (SNPs); vitamin D