title: Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence.
abstract: OBJECTIVE
  Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotide polymorphisms (SNPs), present in the NADSYN1/DHCR7 locus, as an influential player on circulating 25-hydroxyvitamin D [25(OH)D] levels, which itself has been linked to various diseases including cardiovascular disease (CVD). This study investigated the association of these SNPs with CVD and 25(OH)D levels.
  
  
  METHODS
  Sixty- three male patients with verified coronary artery disease (CAD) were recruited, as well as 31 age- and sex-matched controls. Genotyping was performed by sequencing, whereas plasma 25(OH)D levels were assessed by HPLC-UV.
  
  
  RESULTS
  Statistical insignificance was observed in comparing the genotype distribution of patients and controls for both the rs12785878 (NADSYN1) polymorphism (p = 0.097) and the rs1790349 (DHCR7; p = 0.9). Comparison of allelic distributions of rs1790349 and rs12785878 yielded insignificant results (p = 0.7, OR: 0.58-2.6 and p = 0.14, OR: 0.88-2.85, respectively). Taking together patients and controls, both SNPs were found to influence total 25(OH)D levels (p = 0.001 and p < 0.0001) as well as 25(OH)D3 levels only in controls.
  
  
  CONCLUSIONS
  This study further supports the evidence of the ability of the investigated SNPs to predict circulating 25(OH)D levels, nonetheless opposing their use as genetic markers for CAD.
authors.affiliation: Biochemistry Department, Faculty of Pharmacy and Biotechnology, German University in Cairo (GUC), Cairo, Egypt.
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Abu El Maaty
authors.forename: Sally I
authors.initials: SI
authors.lastname: Hassanein
authors.forename: Hameis M
authors.initials: HM
authors.lastname: Sleem
authors.forename: Mohamed Z
authors.initials: MZ
authors.lastname: Gad
mesh_terms: D000328:Adult; D000483:Alleles; D019732:Amide Synthases / Q000235:genetics*; D019733:Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor / Q000235:genetics*; D003324:Coronary Artery Disease / Q000097:blood* / Q000453:epidemiology / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015994:Incidence; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood
chemical_list: D014807:Vitamin D; C104450:25-hydroxyvitamin D; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase; D019732:Amide Synthases; C038479:NAD+ synthase; D019733:Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; C000593321:NADSYN1 protein, human