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Updated: Aug 14, 2026

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Modeling Ascending Vaginal Infection, Preterm Birth, and Neonatal Morbidity in Mice
Published on: October 10, 2025
Genetic variation associated with preterm birth: a HuGE review
Krista S Crider1, Nedra Whitehead, Rebecca M Buus
1Division of Birth Defects and Developmental Disabilities, Atlanta, GA 30333, USA.
Summary
Preterm birth (PTB) risk is linked to genetic factors, particularly tumor necrosis factor-alpha. Environmental influences may interact with these genetic susceptibilities, highlighting the need for further research.
Area of Science:
- Genetics
- Public Health
- Obstetrics
Background:
- Preterm birth (PTB) is a significant public health issue with high prevalence and associated costs.
- Numerous demographic, behavioral, and medical factors are linked to PTB risk.
- Emerging evidence suggests a role for genetic susceptibility in PTB.
Purpose of the Study:
- To review existing studies on maternal and fetal genetic polymorphisms and their association with PTB risk.
- To explore the interplay between genetic and environmental risk factors for PTB.
Main Methods:
- Systematic review of 18 studies published before June 1, 2004.
- Analysis of associations between specific genetic polymorphisms and PTB.
- Focus on polymorphisms in the maternal or fetal genome.
Main Results:
- Polymorphisms in tumor necrosis factor-alpha, a proinflammatory cytokine, showed the most consistent association with increased PTB risk.
- Environmental factors activating inflammatory pathways (e.g., infection, stress, obesity) are linked to PTB.
- Potential interaction between genetic and environmental risk factors is suggested.
Conclusions:
- Maternal and fetal genetic factors contribute to PTB susceptibility.
- Environmental factors may interact with genetic predispositions via inflammatory pathways.
- Further well-designed studies are crucial to understand PTB etiology and develop interventions.
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