Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans

摘要: Vitamin D deficiency is more common among African Americans (AAs) than European (EAs), and epidemiologic evidence links vitamin status to many health outcomes. Two genome-wide association studies (GWAS) in populations identified pathway gene single-nucleotide polymorphisms (SNPs) associated with serum [25(OH)D] levels, but a few of these SNPs have been replicated AAs. Here, we investigated the associations 39 genes, including 19 GWAS-identified SNPs, 25(OH)D concentrations 652 AAs 405 EAs. Linear logistic regression analyses were performed adjusting for relevant environmental biological factors. The pattern SNP was distinct between In AAs, six GC, CYP2R1, DHCR7/NADSYN1 replicated, while nine GWAS GC CYP2R1 A SNP, rs12794714, exhibited strongest signal EAs, however, different rs1993116, most strongly associated. Our models, which take into account genetic variables, accounted 20 28 % variance levels respectively.