ACE2 gene polymorphisms are associated with elevated pulmonary artery pressure in congenital heart diseases

作者：Zi-yang, Yang; Nanshan, Xie; Dongling, Luo; Tao, Huang; Yigao, Huang; Danqing, Yu^*; Caojin, Zhang^*

来源：Gene, 2023, 882: 147642.

DOI：10.1016/j.gene.2023.147642

• Pulmonary artery hypertension
• Angiotensin converting enzyme 2
• Single nucleotide polymorphism
• Congenital heart diseases
• Pulmonary circulation

Backgrounds: Angiotensin converting enzyme 2 (ACE2) polymorphisms are related to the occurrence and prog-nosis of cardiovascular disease. However, whether ACE2 polymorphisms also affect pulmonary circulation in congenital heart disease (CHD) remains unclear. Thus, we investigated the relationship between ACE2 single nucleotide polymorphism (SNPs) and pulmonary circulation in CHD patients of Chinese Han ethnicity. Methods: Enrolled CHD patients (n = 367) underwent gene sequencing of ACE2 SNPs rs2074192, rs2285666, and rs2106809. Patients with pulmonary hypertension were further examined for detailed hemodynamics. Results: Female heterozygous patients had worse pulmonary circulation hemodynamic parameters compared to those of homozygotes. Female CHD patients with the CCA (OR = 0.53, 95% CI: 0.32-0.88) or CCG (OR = 0.59, 95% CI: 0.35-0.99) haplotype had a lower risk of elevated pulmonary artery pressure. Conclusion: In female CHD patients, ACE2 SNPs are related to pulmonary circulation hemodynamics. Female CHD patients with the CCA and CCG haplotype had a lower risk of pulmonary hypertension.

• 单位
  y; Guangdong General Hospital; Guangdong Provincial Cardiovascular Institute; Southern Medical University