Human Genetics

, Volume 123, Issue 4, pp 359–369 | Cite as

Maternal cigarette smoking, metabolic gene polymorphisms, and preterm delivery: new insights on G×E interactions and pathogenic pathways

  • Hui-Ju Tsai
  • Xin Liu
  • Karen Mestan
  • Yunxian Yu
  • Shanchun Zhang
  • Yaping Fang
  • Colleen Pearson
  • Katherin Ortiz
  • Barry Zuckerman
  • Howard Bauchner
  • Sandra Cerda
  • Phillip G. Stubblefield
  • Xiping Xu
  • Xiaobin Wang
Original Investigation

Abstract

Preterm delivery (PTD, <37 weeks of gestation) is a significant clinical and public health problem. Previously, we reported that maternal smoking and metabolic gene polymorphisms of CYP1A1 MspI and GSTT1 synergistically increase the risk of low birth weight. This study investigates the relationship between maternal smoking and metabolic gene polymorphisms of CYP1A1 MspI and GSTT1 with preterm delivery (PTD) as a whole and preterm subgroups. This case–control study included 1,749 multi-ethnic mothers (571 with PTD and 1,178 controls) enrolled at Boston Medical Center. After adjusting covariates, regression analyses were performed to identify individual and joint associations of maternal smoking, two functional variants of CYP1A1 and GSTT1 with PTD. We observed a moderate effect of maternal smoking on PTD (OR = 1.6; 95% CI: 1.1–2.2). We found that compared to non-smoking mothers with low-risk genotypes, there was a significant joint association of maternal smoking, CYP1A1(Aa/aa) and GSTT1 (absent) genotypes with gestational age (β = −3.37; SE = 0.86; P = 9 × 10−5) and with PTD (OR = 5.8; 95% CI: 2.0–21.1), respectively. Such joint association was particularly strong in certain preterm subgroups, including spontaneous PTD (OR = 8.3; 95% CI: 2.7–30.6), PTD < 32 weeks (OR = 11.1; 95% CI: 2.9–47.7), and PTD accompanied by histologic chorioamnionitis (OR = 15.6; 95% CI: 4.1–76.7). Similar patterns were observed across ethnic groups. Taken together, maternal smoking significantly increased the risk of PTD among women with high-risk CYP1A1 and GSTT1 genotypes. Such joint associations were strongest among PTD accompanied by histologic chorioamnionitis.

Supplementary material

439_2008_485_MOESM1_ESM.doc (97 kb)
Supplementary tables (DOC 97 kb)

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Hui-Ju Tsai
    • 1
  • Xin Liu
    • 1
  • Karen Mestan
    • 2
  • Yunxian Yu
    • 1
  • Shanchun Zhang
    • 1
    • 3
  • Yaping Fang
    • 1
  • Colleen Pearson
    • 4
  • Katherin Ortiz
    • 4
  • Barry Zuckerman
    • 4
  • Howard Bauchner
    • 4
  • Sandra Cerda
    • 5
  • Phillip G. Stubblefield
    • 6
  • Xiping Xu
    • 7
  • Xiaobin Wang
    • 1
  1. 1.The Mary 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 MedicineNorthwestern UniversityChicagoUSA
  2. 2.Division of Neonatology, Children’s Memorial Hospital, Department of Pediatrics, Feinberg School of MedicineNorthwestern UniversityChicagoUSA
  3. 3.Institute for BiomedicineAnhui Medical UniversityHefeiPeople’s Republic of China
  4. 4.Department of PediatricsBoston University School of Medicine and Boston Medical CenterBostonUSA
  5. 5.Department of Pathology and Laboratory MedicineBoston University School of Medicine and Boston Medical CenterBostonUSA
  6. 6.Department of Obstetrics and GynecologyBoston University School of Medicine and Boston Medical CenterBostonUSA
  7. 7.Center for Population GeneticsUniversity of Illinois at Chicago School of Public HealthChicagoUSA

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