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

IF 1.5 4区医学 Q3 PERIPHERAL VASCULAR DISEASE

Clinical and Experimental Hypertension Pub Date : 2022-06-14 DOI:10.1080/10641963.2022.2085736

Qing-Fan Lin, Jing-Hong Rao, Shimu Luo, Qing-Mu Wang, Li-Feng Deng, Xuan Chen, Chang-Di Chen, You-fang Chen

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引用次数: 1

Abstract

ABSTRACT Objective To investigate whether endothelial nitric oxide synthase (eNOS) 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 eNOS 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 eNOS rs1799983, rs2070744, and rs61722009 were similar between CHD and healthy controls (P > .05). The frequencies of the eNOS 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(P< .05), and patients with the GT/TT genotypes of eNOS rs1799983 may present higher PAH (OR = 4.412, 95%CI:1.411–13.797, P= .011). Newborns with the GT/TT genotypes had decreased plasma NO production compared to newborns with the GG genotype (P< .01), and NO levels in the CHD PAH (+) group were significantly lower than those in the CHD PAH (-) group (P < .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.

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先天性心脏病新生儿内皮型一氧化氮合酶基因多态性与肺动脉高压的关系

摘要目的探讨内皮型一氧化氮合酶(eNOS) rs1799983、rs2070744和rs61722009基因多态性与闽南先天性心脏病(CHD)新生儿肺动脉高压(PAH)的相关性。方法采用Sanger测序方法对50例继发性冠心病PAH[冠心病PAH(+)]新生儿、52例非PAH[冠心病PAH(-)]新生儿和60例健康对照进行eNOS rs1799983、rs2070744和rs61722009多态性进行基因分型。结果eNOS rs1799983、rs2070744和rs61722009基因型和等位基因频率分布在冠心病患者和健康对照组中相似(P > 0.05)。eNOS rs1799983 G/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%，其中T等位基因在CHD PAH(+)组的频率高于CHD PAH(-)组(P< 0.05)，具有eNOS rs1799983 GT/TT基因型的患者可能出现更高的PAH (OR = 4.412, 95%CI:1.411 ~ 13.797, P= 0.011)。GT/TT基因型新生儿血浆NO生成量低于GG基因型新生儿(P< 0.01)，且CHD PAH(+)组NO水平显著低于CHD PAH(-)组(P< 0.05)。结论T等位基因可能是闽南地区CHD新生儿PAH发病的危险因素，其途径是内皮细胞一氧化氮生成水平降低。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical and Experimental Hypertension 医学-外周血管病

CiteScore

3.90

自引率

0.80%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical and Experimental Hypertension is a reputable journal that has converted to a full Open Access format starting from Volume 45 in 2023. While previous volumes are still accessible through a Pay to Read model, the journal now provides free and open access to its content. It serves as an international platform for the exchange of up-to-date scientific and clinical information concerning both human and animal hypertension. The journal publishes a wide range of articles, including full research papers, solicited and unsolicited reviews, and commentaries. Through these publications, the journal aims to enhance current understanding and support the timely detection, management, control, and prevention of hypertension-related conditions. One notable aspect of Clinical and Experimental Hypertension is its coverage of special issues that focus on the proceedings of symposia dedicated to hypertension research. This feature allows researchers and clinicians to delve deeper into the latest advancements in this field. The journal is abstracted and indexed in several renowned databases, including Pharmacoeconomics and Outcomes News (Online), Reactions Weekly (Online), CABI, EBSCOhost, Elsevier BV, International Atomic Energy Agency, and the National Library of Medicine, among others. These affiliations ensure that the journal's content receives broad visibility and facilitates its discoverability by professionals and researchers in related disciplines.