Environmental and genetic risk factors for preterm birth: interplays with stressful events during pregnancy

Silvina L Heisecke1, María R Santos2,3,4, Mercedes Negri Malbrán1,5

  • 1Dirección de Investigación, Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas y Técnicas (CEMIC-CONICET), Ciudad Autónoma de Buenos Aires, Argentina.

Pediatric Research
|April 15, 2025
PubMed

Insights

Investigating preterm birth (PTB) causes revealed that maternal stress is linked to alcohol intake, chronic hypertension, and specific gene variations. Machine learning identified key environmental and genetic factors contributing to PTB risk.

Area of Science:

  • Genetics and Environmental Health
  • Reproductive Medicine
  • Computational Biology

Background:

  • The etiology of preterm birth (PTB) is complex and not fully understood.
  • Investigating the interplay between environmental exposures and genetic predispositions is crucial for understanding PTB.
  • Maternal stress during pregnancy is a potential contributing factor to PTB.

Purpose of the Study:

  • To explore the relationship between environmental factors, specific gene polymorphisms, and PTB.
  • To examine these relationships within the context of stressful life events during pregnancy.
  • To identify shared environmental and genetic risk factors for PTB and maternal stress.

Main Methods:

  • Analysis of sociodemographic, obstetric, and genetic data from 1263 preterm newborns.
  • Utilized logistic regression and Lasso Ridge logistic regression for risk factor identification and predictor selection.
  • Employed Bayesian networks to evidence associations between variables.

Main Results:

  • Identified alcohol intake and chronic hypertension as significant environmental factors associated with PTB and maternal stress.
  • Pinpointed three single nucleotide polymorphisms (SNPs): rs66911171 (CR1), rs854552 (PON1), and rs4966038 (IGF1R) as related to PTB.
  • Revealed two significant gene-gene interactions: rs854552 x rs4966038 (PON1xIGFR1) and rs5742612 x rs1942386 (IGF1xPGR) in the context of maternal stress and PTB.

Conclusions:

  • Machine learning effectively identified key environmental factors, genetic markers, and their interactions related to PTB in the context of maternal stress.
  • These findings enhance the understanding of the complex pathways linking maternal stress and PTB.
  • The study highlights the potential for targeted interventions and preventive strategies for at-risk populations, leveraging machine learning insights.
Abstract

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