title: Serum 25(OH)D and vitamin D status in relation to VDR, GC and CYP2R1 variants in Chinese.
abstract: Previous studies have identified several common genetic variants in VDR, GC and CYP2R1 to be associated with circulating levels of 25-hydroxyvitamin D [25(OH)D] and vitamin D deficiency in Western populations. We aimed to investigate the associations of these variants with serum levels of 25(OH)D and vitamin D status in 1,199 Chinese. Nine common variants of VDR, GC and CYP2R1 were genotyped using multiple SNaPshot assay, and serum 25(OH)D was detected by radioimmunoassay. The prevalence of vitamin D deficiency (<50 nmol/L) was 38.8%, which is higher in women (46.2%) than in men (34.3%, P<0.0001). The risk alleles of three common variants of GC (rs7041, rs4588, and rs2282679) were significantly associated with a lower serum levels of 25(OH)D (-1.789 ≤β ≤-3.549, P ≤0.006), while common variants in VDR and CYP2R1 were not associated with serum levels of 25(OH)D after adjusted for covariates (P ≥0.30). None of the nine common variants were associated with the presence of vitamin D deficiency in multivariable adjusted logistic regression analyses (P ≥0.17). Haplotype-based analyses of GC-rs7041 and rs4588 showed that the haplotype Gc2-2 (rs7041 AA and rs4588 TT) had the lowest levels of 25(OH)D compared with other haplotypes that contained at least one copy of Gc1 allele (Ptrend <0.0001). Our results suggest that the common variants of GC are genetic determinants of serum 25(OH)D in Chinese.
authors.affiliation: Centre for Epidemiological Studies and Clinical Trials, the Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Li
authors.forename: Xue-Yan
authors.initials: XY
authors.lastname: Yin
authors.forename: Xin-Hua
authors.initials: XH
authors.lastname: Wu
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.forename: Shao-Yi
authors.initials: SY
authors.lastname: Pan
authors.forename: Zhi-Jie
authors.initials: ZJ
authors.lastname: Zheng
authors.forename: Ji-Guang
authors.initials: JG
authors.lastname: Wang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D003430:Cross-Sectional Studies; D000072467:Cytochrome P450 Family 2; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood; D014808:Vitamin D Deficiency / Q000453:epidemiology / Q000235:genetics*; D014809:Vitamin D-Binding Protein / Q000097:blood / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; 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