Department of Medicine, Quanzhou Medical College, Quanzhou, P.R.China.
Department of Obstetrics, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, P.R.China.
Clin Exp Hypertens. 2022 Aug 18;44(6):567-572. doi: 10.1080/10641963.2022.2085736. Epub 2022 Jun 14.
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).
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.
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).
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.
探讨内皮型一氧化氮合酶（）rs1799983、rs2070744 和 rs61722009 基因多态性是否与闽南地区先天性心脏病（CHD）新生儿并发肺动脉高压（PAH）相关。
采用 Sanger 测序法对 50 例 CHD 合并 PAH 新生儿（CHD-PAH(+)）、52 例 CHD 无 PAH 新生儿（CHD-PAH(-)）和 60 例健康对照者的 rs1799983、rs2070744 和 rs61722009 基因多态性进行基因分型。
rs1799983、rs2070744 和 rs61722009 的基因型和等位基因频率分布在 CHD 组与健康对照组之间无差异（>0.05）。rs1799983G/T 等位基因在 CHD-PAH(+)组的频率分别为 85%和 15%，在 CHD-PAH(-)组的频率分别为 96.15%和 3.85%，T 等位基因在 CHD-PAH(+)组的频率高于 CHD-PAH(-)组（<0.05），且 rs1799983 的 GT/TT 基因型患者可能存在更高的 PAH（OR=4.412，95%CI：1.411-13.797，=0.011）。与 GG 基因型相比，GT/TT 基因型的新生儿血浆一氧化氮（NO）生成减少（<0.01），CHD-PAH(+)组的 NO 水平明显低于 CHD-PAH(-)组（<0.05）。
闽南地区 CHD 新生儿中，T 等位基因可能通过降低内皮细胞一氧化氮生成而成为 PAH 的危险因素。
