Genome-wide association study of circulating retinol levels

Alison M. Mondul, Kai Yu, William Wheeler, Hong Zhang, Stephanie J. Weinstein, Jacqueline M. Major, Marilyn C. Cornelis, Satu Männistö, Aditi Hazra, Ann W. Hsing, Kevin B. Jacobs, Heather Eliassen, Toshiko Tanaka, Douglas J. Reding, Sara Hendrickson, Luigi Ferrucci, Jarmo Virtamo, David J. Hunter, Stephen J. Chanock, Peter KraftDemetrius Albanes

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


Retinol is one of the most biologically active forms of vitamin A and is hypothesized to influence a wide range of human diseases including asthma, cardiovascular disease, infectious diseases and cancer. We conducted a genome-wide association study of 5006 Caucasian individuals drawn from two cohorts of men: the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study and the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial. We identified two independent single-nucleotide polymorphisms associated with circulating retinol levels, which are located near the transthyretin (TTR) and retinol binding protein 4 (RBP4) genes which encode major carrier proteins of retinol: rs1667255 (P =2.30× 10 -17) and rs10882272 (P =6.04× 10 -12). We replicated the association with rs10882272 in RBP4 in independent samples from the Nurses' Health Study and the Invecchiare in Chianti Study (InCHIANTI) that included 3792 women and 504 men (P =9.49× 10 -5), but found no association for retinol with rs1667255 in TTR among women, thus suggesting evidence for gender dimorphism (P-interaction=1.31× 10 -5). Discovery of common genetic variants associated with serum retinol levels may provide further insight into the contribution of retinol and other vitamin A compounds to the development of cancer and other complex diseases.

Original languageEnglish (US)
Article numberddr387
Pages (from-to)4724-4731
Number of pages8
JournalHuman molecular genetics
Issue number23
StatePublished - Dec 2011
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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