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Published on: March 12, 2020
TNF-238 polymorphism may predict bronchopulmonary dysplasia among preterm infants in the Egyptian population
Nasser A Elhawary1, Mohammed T Tayeb, Shereen Abdel-Ghafar
1Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura University, Makkah, Kingdom of Saudi Arabia. naelhawary@uqu.edu.sa
Insights
The TNFα -238G > A polymorphism is linked to an increased risk and severity of bronchopulmonary dysplasia (BPD) in preterm infants in Egypt. The presence of the A allele may serve as a biomarker for predicting BPD outcomes.
Area of Science:
- Genetics
- Neonatology
- Pulmonology
Background:
- Bronchopulmonary dysplasia (BPD) poses a significant and growing health challenge in Egypt.
- Genetic factors may influence BPD development and severity in vulnerable preterm infants.
Purpose of the Study:
- To investigate the association between the tumor necrosis factor-alpha (TNFα) -238G > A polymorphism and the risk and severity of BPD in Egyptian preterm neonates.
Main Methods:
- Prospective genotyping of 220 preterm neonates (birth weight <1,500 g, gestational age 26-32 weeks) for the TNFα -238G > A polymorphism.
- Assessment of clinical risk factors for BPD, including mechanical ventilation, antenatal steroids, surfactant therapy, and sepsis.
Main Results:
- The TNFα -238G > A polymorphism was associated with a twofold increased risk of BPD (OR = 2.86).
- The -238A allele was more prevalent in infants with BPD (23%) compared to those without (15%).
- The A allele frequency correlated with BPD severity, being less common in mild cases (9%) and more frequent in moderate (52%) and severe (39%) BPD. The AA genotype was observed in 15% of BPD cases but not in controls.
Conclusions:
- The TNFα -238G > A polymorphism, specifically the A allele, shows potential as a biomarker for predicting clinical outcomes in preterm infants with BPD in Egypt.
- Even a single copy of the mutant A allele may influence the severity of BPD, highlighting its clinical significance.
Unlabelled:
Bronchopulmonary dysplasia (BPD) remains as a major and increasing burden in Egypt.
Rationale:
To determine whether alleles of TNFα-238G > A affect the risk of BPD or the severity of BPD in preterm infants in Egypt.
Study Design:
We prospectively genotyped 220 premature neonates (birth weight <1,500 g and gestational age 26-32 weeks) for the -238 polymorphism, and assessed the clinical risk factors for BPD in our study populations. Infants with BPD were mechanically ventilated.
Results:
Infants who developed BPD (n = 120) had a younger gestational age (31.0 ± 2.1 weeks vs. 34.3 ± 1.5 weeks) and lower birth weight (1,490 ± 360 g vs. 1,880 ± 520 g) than infants who did not develop BPD (n = 100). Results of antenatal steroid supplementation, surfactant therapy, or sepsis might affect the genetic modulation of BPD. The -238G > A polymorphism was associated with a twofold risk of BPD (OR = 2.86; 95% confidence interval, 1.35-3.83). Despite the dominance of the G allele in the Egyptian population, the -238A allele was more common among infants with BPD (23%) than among infants without BPD (15%). The A allele occurred less often in infants with mild BPD (9%) than in infants with severe (39%) or moderate (52%). The AA genotype occurred in 15% of cases but in none of the controls.
Conclusion:
The TNFα -238G > A polymorphism-particularly the presence of an A allele-should be evaluated as a biomarker to predict the clinical outcome of preterm infants with BPD in Egypt. Even the presence of one copy of this mutant allele appears to be sufficient to influence the severity of disease.
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