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Published on: October 10, 2025
Preterm birth and single nucleotide polymorphisms in cytokine genes
Qin Zhu1, Jian Sun1, Ying Chen1
1Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou 215002, China.
Insights
Genetic variations in cytokine genes, known as single nucleotide polymorphisms (SNPs), influence inflammation and increase preterm birth (PTB) risk. Understanding these genetic factors is crucial for preventing premature births.
Area of Science:
- Reproductive biology and genetics
- Neonatal health and development
- Immunology and inflammation
Background:
- Preterm birth (PTB) poses significant risks for neonates, contributing to high morbidity and mortality rates globally.
- PTB affects approximately 12-13% of births in the USA and 5-9% in other developed nations, with China accounting for about one million cases annually.
- Increasing PTB rates are attributed to both genetic susceptibility and environmental factors, with inflammation playing a key role.
Purpose of the Study:
- To review and synthesize current literature on the role of single nucleotide polymorphisms (SNPs) in cytokine genes concerning preterm birth.
- To highlight how population-specific genetic variations influence PTB risk factors and outcomes.
Main Methods:
- Literature review of studies investigating cytokine gene SNPs and their association with preterm birth.
- Analysis of how genetic polymorphisms affect inflammatory responses and susceptibility to environmental factors.
Main Results:
- Cytokine gene SNPs vary significantly across different geographic regions and racial groups, indicating diverse population-specific risks for PTB.
- These genetic variations impact the body's ability to metabolize toxins and regulate inflammation.
- Altered inflammatory responses due to SNPs can influence reproductive health and delivery outcomes when exposed to environmental toxicants or pathogens.
Conclusions:
- Single nucleotide polymorphisms in cytokine genes are critical genetic factors contributing to preterm birth risk.
- Understanding the interplay between genetic predisposition (SNPs) and environmental exposures is essential for developing targeted prevention strategies for PTB.
- Further research into population-specific genetic markers can improve prediction and management of preterm birth.
Abstract:
Preterm birth (PTB) is an important issue in neonates because of its complications as well as high morbidity and mortality. The prevalence of PTB is approximately 12-13% in USA and 5-9% in many other developed countries. China represents 7.8% (approximately one million) of 14.9 million babies born prematurely annually worldwide. The rate of PTB is still increasing. Both genetic susceptibility and environmental factors are the major causes of PTB. Inflammation is regarded as an enabling characteristic factor of PTB. The aim of this review is to summarize the current literatures to illustrate the role of single nucleotide polymorphisms (SNPs) of cytokine genes in PTB. These polymorphisms are different among different geographic regions and different races, thus different populations may have different risk factors of PTB. SNPs affect the ability to metabolize poisonous substances and determine inflammation susceptibility, which in turn has an influence on reproduction-related risks and on delivery outcomes after exposure to environmental toxicants and pathogenic organisms.
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