Abstract
PurposeStudies documented that platelet activating factor (PAF) and the enzyme platelet activating factor acetylhydrolase (PAFAH) play a very important role in the pathogenesis of neonatal necrotizing enterocolitis (NEC). In this retrospective, case-controlled pilot study, the authors investigated the prevalence of single nucleotide polymorphisms (Ile198Thr and Ala379Val) of the PAFAH gene.Subjects and methodsWe screened 570 blood samples from both Caucasian and African-American preterm infants in the Northwest Louisiana population for the above mentioned PAFAH gene polymorphisms. Out of 570 infants, 36 had stage I or II NEC based on diagnostic coding, the International Classification of Diseases, 9th revision, Clinical Modification, 2009 (ICD-9-CM). The remaining infants without an ICD-9-CM diagnosis of NEC were recruited as control population. The DNA was isolated and restriction fragment length polymorphism microplate polymerase chain reaction assay was performed.ResultsVariants of the PAFAH gene polymorphism (Ile198Thr and Ala379Val) frequencies were not significantly different between the infants with NEC and the control group (P value of 0.26 by either multiple logistic regression analysis or the Cochran-Mantel-Haenszel test).ConclusionsThis is the first study of its kind in exploring the relationship between NEC and single nucleotide polymorphisms in the coding genes of the enzyme PAFAH. Our preliminary data demonstrated that adjusted for the effect of race, PAFAH polymorphisms (Ile198Thr and Ala379Val) have no significant effect on NEC.
Highlights
Necrotizing enterocolitis (NEC) is the most common surgical gastrointestinal emergency in neonates with high morbidity and mortality
Variants of the PAF acetylhydrolase (PAFAH) gene polymorphism (Ile198Thr and Ala379Val) frequencies were not significantly different between the infants with NEC and the control group (P value of 0.26 by either multiple logistic regression analysis or the Cochran-Mantel-Haenszel test). This is the first study of its kind in exploring the relationship between NEC and single nucleotide polymorphisms in the coding genes of the enzyme PAFAH
Our preliminary data demonstrated that adjusted for the effect of race, PAFAH polymorphisms (Ile198Thr and Ala379Val) have no significant effect on NEC
Summary
Necrotizing enterocolitis (NEC) is the most common surgical gastrointestinal emergency in neonates with high morbidity and mortality. Immaturity and ischemia biological functions such as epithelial apoptosis, increased vascular permeability, bronchoconstriction and smooth muscle contraction (Hsueh et al 1994; Caplan et al 1992; Sun et al 1994). The proinflammatory effects of PAF are terminated by the enzyme PAF acetylhydrolase (PAFAH). It exists in two forms - intracellular and secretory. Studies in human infants with NEC have shown increased luminal and systemic PAF and reduced expression of PAFAH (Caplan et al 1990). In animal models with NEC, increased levels of serum PAF and decreased serum levels of the PAFAH have been clearly documented (Lu et al 2010). The role of PAF and PAFAH has been extensively documented in various disease states involving inflammation (Tjoelker & Stafforini 2000)
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