Gorący-Rosik Anna, Fic Mateusz, Rosik Jakub, Lewandowska Klaudyna, Safranow Krzysztof, Ciechanowicz Andrzej, Gorący Iwona
Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, 70-111 Szczecin, Poland.
Department of Physiology, Pomeranian Medical University, 70-111 Szczecin, Poland.
Int J Mol Sci. 2025 May 10;26(10):4567. doi: 10.3390/ijms26104567.
Heart failure (HF) is a complex disease and a major cause of morbidity and mortality worldwide. Natriuretic peptides (NPs) are involved in the pathogenesis of HF, but their activity may be modified by polymorphisms in the genes encoding them. Aim: To examine the associations of :rs5065 and :rs198389 polymorphisms with the risk of HF and cardiovascular phenotypes in Polish patients with HF. The study group comprised 330 HF patients, and the control group comprised 206 healthy newborns. Genomic DNA was extracted from blood, and genotyping of both polymorphisms was performed using polymerase chain reaction-restriction fragment length polymorphism. There were no significant differences in the distributions of and genotypes between HF patients and controls. Within the HF group, there were no significant associations between the frequencies of type 2 diabetes, hypertension, left ventricular hypertrophy, or categories of left ventricular ejection fraction (LVEF) and the or variants. However, LVEF was significantly higher in CC homozygotes than in carriers of at least one T allele. The results of our study did not confirm an association between the :rs5065 or :rs198389 polymorphisms and predisposition to HF or HF intermediate phenotypes, except for LVEF.
心力衰竭（HF）是一种复杂的疾病，也是全球发病和死亡的主要原因。利钠肽（NP）参与HF的发病机制，但其活性可能会被编码它们的基因中的多态性所改变。目的：研究波兰HF患者中rs5065和rs198389多态性与HF风险及心血管表型的关联。研究组包括330例HF患者，对照组包括206例健康新生儿。从血液中提取基因组DNA，并使用聚合酶链反应-限制性片段长度多态性对两种多态性进行基因分型。HF患者和对照组之间的和基因型分布没有显著差异。在HF组中，2型糖尿病、高血压、左心室肥厚的频率或左心室射血分数（LVEF）类别与或变体之间没有显著关联。然而，CC纯合子的LVEF显著高于至少携带一个T等位基因的携带者。我们的研究结果未证实rs5065或rs198389多态性与HF易感性或HF中间表型之间存在关联，但LVEF除外。
