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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
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Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth

Thanh T Hoang1, Yunping Lei2, Laura E Mitchell1

  • 1Departments of Epidemiology, Human Genetics, and Environmental Sciences.

The Journal of Nutrition
|January 29, 2019
PubMed
Summary

Maternal lactase deficiency may increase the risk of neural tube defects (NTDs) in offspring, particularly among non-Hispanic white women. However, the association showed opposite effects in Hispanic women, warranting further investigation into nutrient absorption and NTD risk factors.

Keywords:
genetic epidemiologymaternal lactase deficiencyneural tube defectspregnancyrs4988235spina bifida

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Area of Science:

  • Reproductive Health
  • Genetics
  • Nutritional Science

Background:

  • Adequate folic acid intake reduces neural tube defect (NTD) risk, but NTDs still occur in pregnancies with sufficient intake.
  • Lactase deficiency can impair nutrient absorption, potentially contributing to NTDs.
  • This study investigates the link between maternal lactase deficiency and NTD risk.

Purpose of the Study:

  • To examine the association between a genetic marker for lactase deficiency (rs4988235) and NTDs in offspring.
  • To explore potential effect modification by dietary factors and race/ethnicity.

Main Methods:

  • A case-control study using data from the National Birth Defects Prevention Study (1997-2009).
  • Included non-Hispanic white (NHW) and Hispanic women with offspring affected by NTDs (cases) or without birth defects (controls).
  • Logistic regression analyses were performed, stratified by race/ethnicity and dietary factors.

Main Results:

  • Maternal lactase deficiency (CC genotype) was associated with increased NTD risk in NHW women (OR: 1.37).
  • Conversely, lactase deficiency was associated with decreased NTD risk in Hispanic women (OR: 0.50).
  • Associations were modified by lactose intake in NHW women and dietary folate in Hispanic women.

Conclusions:

  • Maternal lactase deficiency appears to be associated with NTDs in offspring.
  • The observed opposite effect directions by race/ethnicity require further research to understand underlying mechanisms.
  • Nutrient absorption and genetic factors may play complex roles in NTD etiology.