The T2238C Human Atrial Natriuretic Peptide Molecular Variant and the Risk of Cardiovascular Diseases.

摘要: Atrial natriuretic peptide (ANP) is a cardiac hormone which plays important functions to maintain cardio-renal homeostasis. The structure highly conserved among species. However, few gene variants are known fall within the human ANP gene. variant rs5065 (T2238C) exerts most substantial effects. T C transition at 2238 position of (13–23% allele frequency in general population) leads production 30-, instead 28-, amino-acid-long α-carboxy-terminal peptide. In vitro, CC2238/αANP increases levels reactive oxygen species and causes endothelial damage, vascular smooth muscle cells contraction, increased platelet aggregation. These effects achieved through deregulated activation type receptor, consequent inhibition adenylate cyclase activity, Giα proteins. vivo, dysfunction aggregation present subjects carrying C2238/αANP variant. Several studies documented an risk stroke myocardial infarction carriers. Recently, incomplete response antiplatelet therapy ischemic heart disease patients undergoing percutaneous coronary revascularization has been reported. summary, overall evidence supports concept that T2238C/ANP cardiovascular genetic factor needs be taken into account daily clinical practice.