Relation between endothelial nitric oxide synthase genetic polymorphisms and pulmonary arterial hypertension in newborns with congenital heart disease.

Objective: To investigate whether endothelial nitric oxide synthase () rs1799983, rs2070744, and rs61722009 gene polymorphisms are associated with pulmonary arterial hypertension (PAH) in South Fujian newborns with congenital heart disease (CHD).

Methods: Genotyping for the rs1799983, rs2070744, and rs61722009 polymorphisms was performed using Sanger sequencing in 50 newborns with PAH secondary to CHD [CHD PAH (+)], 52 newborns with CHD without PAH [CHD PAH (-)], and 60 healthy controls.

Results: The genotype and allele frequency distributions of rs1799983, rs2070744, and rs61722009 were similar between CHD and healthy controls ( > .05). The frequencies of rs1799983 G/T allele were 85% and 15% in the CHD PAH (+) group and 96.15% and 3.85% in the CHD PAH (-) group, the frequency of the T allele was higher in the CHD PAH (+) group than in the CHD PAH (-) group(< .05), and patients with the GT/TT genotypes of rs1799983 may present higher PAH (OR = 4.412, 95%CI:1.411-13.797, = .011). Newborns with the GT/TT genotypes had decreased plasma NO production compared to newborns with the GG genotype (< .01), and NO levels in the CHD PAH (+) group were significantly lower than those in the CHD PAH (-) group ( < .05).

Conclusion: The T allele could be a risk factor for PAH in newborns with CHD in South Fujian through decreased levels of nitric oxide production by the endothelium.