Literature DB >> 20043715

Is an endothelial nitric oxide synthase gene mutation a risk factor in the origin of intraventricular hemorrhage?

Prasad Vannemreddy1, Christina Notarianni, Krishna Yanamandra, Dawn Napper, Joseph Bocchini.   

Abstract

OBJECT: Studies have shown decreased levels of nitric oxide (NO), the product of endothelial NO synthase (eNOS) gene activity, in infants with respiratory conditions and intraventricular hemorrhage (IVH). The authors evaluated the association of the eNOS gene promoter polymorphism T-786C with the cause of these conditions (respiratory conditions and IVH) in premature infants.
METHODS: Blood samples from 124 African American premature infants were studied. The DNA was isolated and microplate polymerase chain reaction-restriction fragment length polymorphism assay was performed. Genotypes were scored as: TT homozygotes with 140 bp and 40 bp; CC homozygotes with 90 bp, 50 bp, and 40 bp; and TC heterozygotes with 140 bp, 90 bp, 50 bp, and 40 bp. Genotypes were stratified according to ethnicity, preterm status, and prematurity conditions.
RESULTS: The mutant allele -786C was present in 15.3% of premature infants with respiratory distress syndrome, bronchopulmonary dysplasia, and IVH, compared with 7.25% in those premature infants without these conditions. A significant 2-fold increase of the mutant allele in patients compared with controls (p = 0.04, OR 2.3) reveals that the eNOS -786C allele could be a significant risk factor in the origin of respiratory conditions and IVH in premature infants.
CONCLUSIONS: These results suggest that the mutant eNOS -786C allele is a significant risk factor in the origin of respiratory and IVH diseases, probably mediating an insufficient supply of endogenous NO in premature infants.

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Year:  2010        PMID: 20043715     DOI: 10.3171/2009.10.FOCUS09143

Source DB:  PubMed          Journal:  Neurosurg Focus        ISSN: 1092-0684            Impact factor:   4.047


  10 in total

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  10 in total

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