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Associations of AHR, CYP1A1, EPHX1, and GSTP1 genetic polymorphisms with small-for-gestational-age infants

Huina Yan1,2, Yali Zhang2, Le Zhang1,2

  • 1Institute of Reproductive and Child Health, Peking University/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Beijing, China.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|October 3, 2019
PubMed

Insights

Genetic variations in CYP1A1, EPHX1, and GSTP1 may increase the risk of small-for-gestational-age (SGA) infants. Aryl hydrocarbon receptor (AHR) influences these associations, highlighting potential genetic factors in SGA development.

Area of Science:

  • Genetics
  • Perinatal Medicine
  • Molecular Epidemiology

Background:

  • Small-for-gestational-age (SGA) is a significant predictor of adverse neonatal outcomes.
  • Genetic factors play a role in fetal growth, but specific gene associations with SGA require further investigation.

Purpose of the Study:

  • To examine the association between genetic polymorphisms in aryl hydrocarbon receptor (AHR), cytochrome P450 (CYP1A1), epoxide hydrolase 1 (EPHX1), and glutathione S-transferase P1 (GSTP1) and the risk of SGA.
  • To explore potential modifying effects of AHR polymorphisms on these associations.

Main Methods:

  • A nested case-control study was conducted within a prospective cohort in Shanxi Province, China, involving 126 SGA cases and 381 controls.
  • Genotyping of single nucleotide polymorphisms (SNPs) in AHR, CYP1A1, EPHX1, and GSTP1 was performed using the MassARRAY platform.
  • Statistical analyses, including odds ratios (OR) and 95% confidence intervals (CI), were used to assess associations and perform strata analysis.

Main Results:

  • Significant associations were found between CYP1A1 (rs4646421, rs4646903) and EPHX1 (rs1051740) polymorphisms and SGA.
  • Neonates born to mothers with variant alleles in EPHX1 (rs1051740) and GSTP1 (rs1695) (OR = 5.26) or CYP1A1 (rs4646903) and EPHX1 (rs1051740) (OR = 7.11) had a significantly increased risk of SGA.
  • Strata analysis by AHR polymorphisms (rs2282883, rs17137566) revealed that the associations between CYP1A1, EPHX1, GSTP1, and SGA were significant in women with variant heterozygous or homozygous genotypes.

Conclusions:

  • Genetic variations in CYP1A1, EPHX1, and GSTP1 are potential risk factors for SGA.
  • AHR polymorphisms may modulate the risk of SGA associated with these genes, suggesting complex gene-environment interactions in fetal growth.
Abstract

Keywords:
Nested case-control studysingle nucleotide polymorphismsmall-for-gestational-age infants

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