eNOS Gene Polymorphisms in Perinatal Hypoxic-Ischemic Encephalopathy
Cho Min, Hyun Kwang-Sun, 정찬욱, 최인영, 김명주, 장영표,
소속 상세정보
( Cho Min )
단국대학교 의과대학 의과학연구소
( Hyun Kwang-Sun )
단국대학교 의과대학 의과학연구소
정찬욱 ( Chung Chan-Wook )
단국대학교 의과대학 소아과학교실
최인영 ( Choi In-Young )
단국대학교 의과대학 해부학교실
김명주 ( Kim Myeung-Ju )
단국대학교 의과대학 해부학교실
장영표 ( Chang Young-Pyo )
단국대학교 의과대학 소아과학교실
KMID : 0357920090430040306
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-786C 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-786C were associated with PPHN.
키워드
Nitric oxide;Endothelial NOS (eNOS);Genetic polymorphism;Hypoxic-ischemic encephalopathy;Newborn;Infant;Persistent pulmonary hypertension of the newborn (PPHN)
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