eNOS Gene Polymorphisms in Perinatal Hypoxic-Ischemic Encephalopathy

ABSTRACT

BACKGROUND: In perinatal hypoxic-ischemic encephalopathy (HIE), cerebral blood flow is impaired and the activity of nitric oxide systhase (NOS) is markedly increased. For the association with the development of a stroke, the endothelial NOS (eNOS) polymorphisms are well-known. METHODS: Three clinically relevant polymorphisms of the eNOS gene were determined in 37 term/near-term infants with perinatal HIE (HIE group) and 54 normal term newborn infants without any perinatal problems (control group) using a polymerase chain reaction with or without restriction fragment enzyme digestion. The differences in the genotype, allele, and haplotype frequencies were evaluated between the groups. RESULTS: The analysis of the allele frequencies showed that the G allele of Glu298Asp was more frequent in the HIE group than in the controls. The comparisons between the controls and each subgroups with complications that occurred with HIE showed that the TC genotype and C allele of T(-786)C were more common in patients with persistent pulmonary hypertension of the newborn (PPHN) than in the controls. The frequency of the A b T haplotype was lower in the HIE patients than in the controls. CONCLUSIONS: The G allele of Glu298Asp was associated with perinatal HIE, while the TC genotype and C allele of T(-786)C were associated with PPHN.