The C(-344)T promoter polymorphism of the human aldosterone synthase (CYP11B2) gene has been associated with hypertension and cardiac hypertrophy, but there were contrasting data. We analysed the genotype/phenotype associations between this polymorphism and cardiovascular variables in a young adult population, where interactions among genes, gene-environment, and acquired ageing-related organ damage are reduced. Anthropometric measurements, blood pressure, heart rate, left ventricular variables (by echocardiography), and carotid artery wall intimal-media thickness (by high-resolution sonography and digitalized morphometry) were taken in 420 white Caucasian students (mean age 23.5 years, s.d. 2.5 years). CYP11B2 alleles were detected by genomic polymerase chain reaction followed by digestion. Taking into account the three possible models of inheritance, we found no differences in the considered variables, except for an independent effect of the C(-344) allele on SBP in males (TT 125.6 (1.6), TC 128.4 (1.2) and CC 130.5 (2.2), mmHg, media (ES), P=0.03), and on interventricular septum thickness in diastole in females (CC 6.98 (0.12) vs TT 6.87 (0.09) and TC 6.87 (0.07), mmHg, P<0.01), in the codominant model. In conclusion, the CYP11B2 C(-344)T polymorphism appears to have a slight role in the cardiovascular phenotype of young healthy adults, even if these genotype/phenotype relationships might change with ageing.
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http://dx.doi.org/10.1038/sj.jhh.1001619 | DOI Listing |
Cell Mol Life Sci
December 2024
Department of Urology, Zhongnan Hospital of Wuhan University, Wuhan, China.
Aldosterone-producing adenoma (APA) is a leading cause of primary aldosteronism (PA), a condition marked by excessive aldosterone secretion. CYP11B2, the aldosterone synthase, plays a critical role in aldosterone biosynthesis and the development of APA. Despite its significance, encoding regulatory mechanisms governing CYP11B2, particularly its degradation, remain poorly understood.
View Article and Find Full Text PDFLab Med
December 2024
Department of Pediatrics, AIIMS Patna, Patna, Bihar, India.
Objective: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding AS are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
December 2024
Université Paris Cité, INSERM CIC1418, 75015 Paris, France; Hypertension Department, AP-HP, Hôpital, Georges-Pompidou, 75015 Paris, France.
Inappropriate aldosterone excess plays a key role in the pathophysiology of various cardiovascular, endocrine and renal diseases. Mineralocorticoid receptor (MR) antagonists (MRAs) such as spironolactone block of the harmful effects of aldosterone and are recommended treatment in these various conditions. However, the sexual adverse effects of spironolactone due to its lack of specificity for the MR and the risk of hyperkalemia in patients with decreased renal function, limit its use.
View Article and Find Full Text PDFHypertension
December 2024
Center for Adrenal Disorders, Division of Endocrinology, Diabetes, and Hypertension (J.M.B., B.H., L.C.T., J.M., Y.N., A.J.N., A.V.).
Background: Renin-independent aldosterone production in normotensive people increases risk for developing hypertension. In parallel, normotensive adrenal glands frequently harbor aldosterone-producing micronodules with pathogenic somatic mutations known to induce primary aldosteronism (PA). A deeper understanding of these phenomena would inform the origins of PA and its role in hypertension pathogenesis.
View Article and Find Full Text PDFHypertens Res
November 2024
Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita, Japan.
Primary aldosteronism (PA) is a prevalent and curable secondary hypertensive disorder that accounts for 5-13% of all hypertension cases. The prevalence of resistant hypertension, cerebral and cardiovascular diseases, and renal complications is higher in PA patients than in those with essential hypertension. Appropriate diagnosis and treatment at an early stage may suppress cerebral and cardiovascular events.
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