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

Ken Batai, Adam B. Murphy, Ebony Shah, Maria Ruden, Jennifer Newsome, Sara Agate, Michael A. Dixon, Hua Yun Chen, Leslie A. Deane, Courtney M.P. Hollowell, Chiledum Ahaghotu, Rick A. Kittles

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

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

Original languageEnglish (US)
Pages (from-to)1395-1405
Number of pages11
JournalHuman Genetics
Volume133
Issue number11
DOIs
StatePublished - Oct 4 2014

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Batai, K., Murphy, A. B., Shah, E., Ruden, M., Newsome, J., Agate, S., Dixon, M. A., Chen, H. Y., Deane, L. A., Hollowell, C. M. P., Ahaghotu, C., & Kittles, R. A. (2014). Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans. Human Genetics, 133(11), 1395-1405. https://doi.org/10.1007/s00439-014-1472-y