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Maternal cigarette smoking, metabolic gene polymorphisms, and preterm delivery: new insights on GxE interactions and

Hui-Ju Tsai1, Xin Liu, Karen Mestan

  • 1Mary Ann and J. Milburn Smith Child Health Research Program, Children's Memorial Hospital and Children's Memorial Research Center, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. htsai@childrensmemorial.org

Human Genetics
|March 6, 2008
PubMed

Insights

Maternal smoking combined with specific genetic variations in CYP1A1 and GSTT1 significantly elevates the risk of preterm delivery (PTD). This combined effect is particularly pronounced in spontaneous PTD and cases with histologic chorioamnionitis.

Area of Science:

  • Genetics and Epigenetics
  • Reproductive Health
  • Public Health

Background:

  • Preterm delivery (PTD) is a major global health concern.
  • Maternal smoking and specific gene polymorphisms are known risk factors for adverse pregnancy outcomes.
  • Previous research indicated a synergistic effect of smoking and gene variants on low birth weight.

Purpose of the Study:

  • To investigate the combined effects of maternal smoking and CYP1A1 MspI/GSTT1 gene polymorphisms on preterm delivery.
  • To analyze these associations in the overall PTD population and specific preterm subgroups.
  • To explore potential ethnic variations in these relationships.

Main Methods:

  • A case-control study involving 1,749 multi-ethnic mothers.
  • Regression analyses were used to assess individual and joint associations.
  • Covariates were adjusted for in the statistical models.

Main Results:

  • Maternal smoking showed a moderate association with PTD (OR = 1.6).
  • A significant joint association was found between maternal smoking and high-risk CYP1A1/GSTT1 genotypes with PTD (OR = 5.8).
  • This joint effect was strongest in spontaneous PTD, PTD < 32 weeks, and PTD with histologic chorioamnionitis.

Conclusions:

  • Maternal smoking significantly increases PTD risk in women with high-risk CYP1A1 and GSTT1 genotypes.
  • The synergistic effect of smoking and these genotypes is most pronounced in PTD cases with histologic chorioamnionitis.
  • These findings highlight the importance of genetic susceptibility in mediating the impact of smoking on preterm birth.

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