The prevalence of platelet activating factor acetylhydrolase single nucleotide polymorphisms in relationship to necrotizing enterocolitis in Northwest Louisiana infants

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Abstract

Purpose

Studies 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 methods

We 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.

Results

Variants 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).

Conclusions

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.

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Most cited references 39

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Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.

S. Takamatsu, D Stafforini, Michael Prescott … (1996)

Deficiency of plasma platelet-activating factor (PAF) acetylhydrolase is an autosomal recessive syndrome that has been associated with severe asthma in Japanese children. Acquired deficiency has been described in several human diseases usually associated with severe inflammation. PAF acetylhydrolase catalyzes the degradation of PAF and related phospholipids, which have proinflammatory, allergic, and prothrombotic properties. Thus, a deficiency in the degradation of these lipids should increase the susceptibility to inflammatory and allergic disorders. Miwa et al. reported that PAF acetylhydrolase activity is absent in 4% of the Japanese population, which suggests that it could be a common factor in such disorders, but the molecular basis of the defect is unknown. We show that inherited deficiency of PAF acetylhydrolase is the result of a point mutation in exon 9 and that this mutation completely abolishes enzymatic activity. This mutation is the cause of the lack of enzymatic activity as expression in E. coli of a construct harboring the mutation results in an inactive protein. This mutation as a heterozygous trait is present in 27% in the Japanese population. This finding will allow rapid identification of subjects predisposed to severe asthma and other PAF-mediated disorders.

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Necrotizing enterocolitis.

R. Lawrence Moss, Marion C W Henry (2008)

Necrotizing enterocolitis (NEC) remains a major cause of neonatal morbidity and death. The pathophysiology is poorly understood. Prevailing evidence suggests that NEC is due to an inappropriate inflammatory response of the immature gut to some undefined insult. The mortality rate (15%-25%) for affected infants has not changed appreciably in 30 years. Many infants with NEC recover uneventfully with medical therapy and have long-term outcomes similar to unaffected infants of matched gestational age. Infants with progressive disease requiring surgical intervention suffer almost all of the mortality and morbidity. Of these, approximately 30%-40% will die of their disease and most of the remainder will develop long-term neurodevelopmental and gastrointestinal morbidity. Recent randomized trials suggest that the choice of operation does not influence patient outcome. Current work is focusing on developing a better understanding of the pathogenesis and improving means to identify which infants are at greatest risk of disease progression.

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Necrotizing enterocolitis in very low birth weight infants: biodemographic and clinical correlates. National Institute of Child Health and Human Development Neonatal Research Network.

Avroy A Fanaroff, Clive Phillips, Richard L. Wright … (1991)

We studied the occurrence of necrotizing enterocolitis in 2681 very low birth weight infants during an 18-month period to characterize the biodemographic and clinical correlates. Proven necrotizing enterocolitis (Bell stage II and beyond) occurred in 10.1% of study infants; necrotizing enterocolitis was suspected in 17.2% of study infants. Positivity of blood cultures was related to necrotizing enterocolitis staging. The mortality rate increased only for stage III necrotizing enterocolitis (54% died). Logistic regression identified medical center of birth, race, gender, birth weight, maternal hemorrhage, duration of ruptured membranes, and cesarean section as significant risk factors. For one center the odds ratio was 3.7, whereas for another center it was only 0.3. For black boys, the odds ratio was 2.3 relative to nonblack boys; for girls, race did not affect prevalence of necrotizing enterocolitis. Age at onset was related to birth weight and gestational age. Intercenter differences in necrotizing enterocolitis prevalence were related to time required to regain birth weight and other indicators of fluid management. Gram-positive organisms predominated in positive blood cultures for stage I and II necrotizing enterocolitis; enteric bacteria were isolated more frequently in infants with stage III disease. We conclude that necrotizing enterocolitis prevalence varies greatly among centers; this may be related to early clinical practices of neonatal care.

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Author and article information

Contributors

: ssank1@lsuhsc.edu

: kyanam@lsuhsc.edu

: dnappe@lsuhsc.edu

: gcaldi@lsuhsc.edu

: rdhanire@uthsc.edu

Journal

Journal ID (nlm-ta): Springerplus

Journal ID (iso-abbrev): Springerplus

Title: SpringerPlus

Publisher: Springer International Publishing (Cham )

ISSN (Electronic): 2193-1801

Publication date (Electronic): 2 July 2013

Publication date PMC-release: 2 July 2013

Publication date Collection: 2013

Volume: 2

Electronic Location Identifier: 294

Affiliations

[ ]Department of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA 71130 USA

[ ]Department of Biometry, Louisiana State University Health Sciences Center, Shreveport, LA 71130 USA

[ ]Department of Pediatrics (Neonatology division), University of Tennessee Health Science Center, Memphis, TN 38163 USA

Article

Publisher ID: 370

DOI: 10.1186/2193-1801-2-294

PMC ID: 3710407

PubMed ID: 23888267

SO-VID: 0c95e8eb-8c5e-4687-8539-d2673cfd40e9

License:

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 3 April 2013

Date accepted : 25 June 2013

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ScienceOpen disciplines: Uncategorized

Keywords: necrotizing enterocolitis,neonates,preterm,single nucleotide polymorphisms,platelet activating factor,paf,paf acetylhydrolase,pafah

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ScienceOpen disciplines: Uncategorized

Keywords: necrotizing enterocolitis, neonates, preterm, single nucleotide polymorphisms, platelet activating factor, paf, paf acetylhydrolase, pafah

The prevalence of platelet activating factor acetylhydrolase single nucleotide polymorphisms in relationship to necrotizing enterocolitis in Northwest Louisiana infants

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Abstract

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Results

Conclusions

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Arabidopsis genomics

Most cited references 39

Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.

Necrotizing enterocolitis.

Necrotizing enterocolitis in very low birth weight infants: biodemographic and clinical correlates. National Institute of Child Health and Human Development Neonatal Research Network.

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