Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery

Hans Christian Erichsen, Stephanie A.Mulherin Engel, Peter K. Eck, Robert Welch, Meredith Yeager, Mark Levine, Anna Maria Siega-Riz, Andrew F. Olshan, Stephen J. Chanock

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


Vitamin C has been the focus of epidemiologic investigation in preterm delivery (<37 weeks' gestation), which is a leading cause of neonatal mortality and birth-related morbidity. There are two sodium-dependent membrane transporters encoded by SLC23A1 and SLC23A2, which have key roles in human vitamin C metabolism and which control dietary uptake, reabsorption, and tissue distribution of vitamin C. Using maternal DNA, the authors evaluated common single-nucleotide polymorphisms (SNPs) in SLC23A1 and SLC23A2 in a nested case-control analysis of the Pregnancy, Infection, and Nutrition Study (1995-2000) cohort. Of the associations observed for both haplotypes in SLC23A1 and individual SNPs in SLC23A2, the most robust finding is with an intron 2 variant in SLC23A2. Heterozygotes and homozygotes for this variant had a 1.7-fold (95% confidence interval: 0.9, 3.3) and a 2.7-fold (95% confidence interval: 1.2, 6.3) elevation in the risk of spontaneous preterm birth, respectively. Semi-Bayesian hierarchical regression analysis, which simultaneously adjusted for multiple SNPs within the same gene, gave comparable results. The authors' findings link genetic variants in the vitamin C transporters to spontaneous preterm birth, which may explain previous dietary associations. If the findings from this study are confirmed, they may serve as the foundation for genetic risk assessment of nutritional pathways in preterm birth.

Original languageEnglish (US)
Pages (from-to)245-254
Number of pages10
JournalAmerican journal of epidemiology
Issue number3
StatePublished - Feb 2006
Externally publishedYes


  • Ascorbic acid
  • Polymorphism
  • Premature birth
  • Rupture, spontaneous
  • Single nucleotide

ASJC Scopus subject areas

  • Epidemiology


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