title: Genetic Variation in CYP2R1 and GC Genes Associated With Vitamin D Deficiency Status.
abstract: This cross-sectional study enrolled 180 patients at a private family practice in Virginia. Total serum vitamin D concentrations were obtained weekly from January 30, 2013, through March 30, 2013, in consecutive patients regularly scheduled for laboratory work at the practice. Patients were categorized into 2 groups and analyzed for variant alleles in vitamin D receptor ( VDR; rs2228570), cytochrome P450 2R1 ( CYP2R1; rs10741657), 7-dehydrocholesterol reductase ( DHCR7; rs12785878), and group-specific component ( GC; rs2282679) to determine whether variants of those alleles influenced total serum 25(OH)D concentrations. One-hundred and eighty patients were enrolled, with 40 (22%) being sufficient, 25-hydroxy vitamin D level 25(OH)D ≥ 30 ng/mL, and 140 (78%) being insufficient, 25(OH)D < 30 ng/mL. Of the 4 genes, 2 genes, CYP2R1 (rs10741657) and GC (rs2282679), demonstrated a significant association related to vitamin D status. Subjects with 1 or more variant alleles at rs10741657 were almost 3.7 (odds ratio [OR] 3.67; 95% confidence interval [CI]: 1.35-9.99) times more likely be insufficient in vitamin D and subjects with 1 or more variant alleles at rs2282679 were about half (OR 0.42; 95% CI: 0.18-0.93) as likely to be insufficient in vitamin D. Allelic variations in CYP2R1 (rs10741657) and GC (rs2282679) affect vitamin D levels, but variant alleles on VDR (rs2228570) and DHCR7 (rs12785878) were not correlated with vitamin D deficiency, 25(OH)D < 30 ng/mL.
authors.affiliation: 1 Department of Pharmacy Practice, Harrison School of Pharmacy, Auburn University, Mobile AL, USA.
authors.forename: Nicole A
authors.initials: NA
authors.lastname: Slater
authors.affiliation: 2 Department of Pharmacy Practice, Bernard J Dunn School of Pharmacy, Shenandoah University, Winchester, VA, USA.
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Rager
authors.affiliation: 2 Department of Pharmacy Practice, Bernard J Dunn School of Pharmacy, Shenandoah University, Winchester, VA, USA.
authors.forename: Dawn E
authors.initials: DE
authors.lastname: Havrda
authors.affiliation: 3 Department of Pharmacogenomics, Bernard J Dunn School of Pharmacy, Shenandoah University, Winchester, VA, USA.
authors.forename: Arthur F
authors.initials: AF
authors.lastname: Harralson
mesh_terms: D000368:Aged; D000483:Alleles; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D003430:Cross-Sectional Studies; D000072467:Cytochrome P450 Family 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*; D014807:Vitamin D / Q000031:analogs & derivatives / Q000097:blood; D014808:Vitamin D Deficiency / Q000097:blood / Q000235:genetics*; D014809:Vitamin D-Binding Protein / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D014809:Vitamin D-Binding Protein; D014807:Vitamin D; C104450:25-hydroxyvitamin D; D000072467:Cytochrome P450 Family 2; C506833:CYP2R1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
keywords: deficiency; genetics; rs10741657; rs12785878; rs2228570; rs2282679; vitamin D