Abstract
Vitamin D status is influenced by a number of factors including dietary intake, skin pigmentation and sun exposure. Serum concentration of 25(OH)D may also be under the influence of polymorphisms in genes functionally important for vitamin D metabolism. The aim of our study was to explore the association between rs12785878 (NADSYN1), rs6013897 (CYP24A1), rs10741657 (CYP2R1) and rs2282679 (GC) polymorphisms and serum concentrations of vitamin D in an adult Brazilian population. We evaluated 514 participants (33–79 yrs; 266 women, 248 men) with the Pró‐Saúde Study, a cohort of university employees in Rio de Janeiro (22°57′S), Brazil. Serum 25(OH)D concentrations were analyzed by chemiluminescent enzyme‐labeled immunometric assay. Genotyping of common variants were performed by real time PCR method. Mean serum 25(OH)D was 19.4 (SD: 8.1 ng/mL) and 54% of participants had concentrations below 20ng/ml. Allele frequencies were G (54%) and T (46%) for rs12785878; T (65%) and A (35%) for rs6013897; G (71%) and A (29%) for rs10741657; and T (78%) and G (22%) for rs2282679. Both genotype and allele frequencies for rs2282679 showed statistically significant differences (p=0.001 and p=0.0003, respectively) between groups according to vitamin D sufficiency (<20ng/mL vs. ≥20ng/ml). The allelic association analysis showed that rs2282679 G allele was a risk factor for vitamin D insufficiency [serum 25(OH)D <20ng/mL, OR=1.75 (1.29–2.38)]. After adjustments for month of blood drawn, skin type, sun exposure index and vitamin D intake, participants homozygous for the ancestral allele (TT) for rs2282679 had significantly higher serum 25(OH)D than TG and GG genotypes (mean±SE: 20.5±0.5, 17.7±0.6 and 17.0±1.5, respectively, p=0.001). Our results suggest that rs2282679 polymorphisms may contribute to variability in serum 25(OH)D concentrations in Brazilian adults, and therefore should be considered when evaluating determinants of vitamin D status, as well when interpreting results on prevalence of vitamin D insufficiency in this population.Support or Funding InformationConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, grant number 484636/2013‐8) and Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ, grant number 26/102.201/2013), Brazil
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