Document Detail

Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis.
MedLine Citation:
PMID:  17597649     Owner:  NLM     Status:  MEDLINE    
A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been correlated with low plasma concentrations of L-arginine in neonates. As plasma L-arginine concentrations are decreased in premature infants with necrotizing enterocolitis (NEC), we hypothesized that the CPS1 T1405N polymorphism would correlate with the presence of NEC. We analyzed the CPS1 genotypes for the T1405N polymorphism in 17 preterm infants (<or=30 wk and <1500 g) with established NEC, 34 preterm infants without NEC, and 25 healthy term infants. Distribution of genotypes did not differ between the NEC population (CC:AC:AA = 70.6%:23.5%:5.9%) and the preterm control group (CC:AC:AA = 41.2%:35.3%:23.5%; p = 0.110) or the term group (CC:AC:AA = 44%:48%:8%; p = 0.228). The C allele frequency was 82.4% in NEC and 58.8% in preterm control infants (p = 0.018) and analysis for linear trend demonstrated that incidence of NEC increased with the number of C alleles (p = 0.037). The CC genotype was associated with an increased risk of NEC in the preterm infants [odds ratio (OR) = 3.43, 95% confidence interval (CI): 1.01-11.49, p = 0.048), when compared with the grouped together AA/AC genotypes. These data suggest that the CPS1 T1405N polymorphism may be associated with the risk of NEC in preterm infants.
Rob M J Moonen; Aimee D C Paulussen; Nicole Y P Souren; Alfons G H Kessels; M Estela Rubio-Gozalbo; Eduardo Villamor
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric research     Volume:  62     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-08-16     Completed Date:  2007-09-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  188-90     Citation Subset:  IM    
Department of Pediatrics, University Hospital of Maastricht, 6202 AZ Maastricht, The Netherlands.
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MeSH Terms
Arginine / blood
Carbamoyl-Phosphate Synthase (Ammonia) / genetics*,  metabolism
Case-Control Studies
Enterocolitis, Necrotizing / blood,  enzymology,  epidemiology,  genetics*
Gene Frequency
Genetic Predisposition to Disease
Gestational Age
Infant, Newborn
Infant, Premature / blood,  metabolism*
Odds Ratio
Polymorphism, Single Nucleotide*
Retrospective Studies
Risk Assessment
Risk Factors
Severity of Illness Index
Reg. No./Substance:
74-79-3/Arginine; EC Synthase (Ammonia)

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