TNF-238 polymorphism may predict bronchopulmonary dysplasia among preterm infants in the Egyptian population

Bronchopulmonary dysplasia (BPD) remains as a major and increasing burden in Egypt. Rationale To determine whether alleles of TNF-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 <1,500g 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 +/- 360g vs. 1,880 +/- 520g) 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 TNF -238G>A polymorphismparticularly the presence of an A alleleshould 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. Pediatr Pulmonol. 2013; 48:699-706. (c) 2012 Wiley Periodicals, Inc.