title: -344C/T polymorphism of CYP11B2 gene in Italian patients with idiopathic low renin hypertension.
abstract: Most patients with low renin essential hypertension are not qualitatively different from patients with idiopathic hyperaldosteronism, as in both conditions aldosterone secretion is not appropriately reduced. The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism, located in the promoter region of the aldosterone synthase gene, in 83 patients with idiopathic low renin hypertension characterized by an increased aldosterone to renin ratio, including both patients with low renin essential hypertension (n=53) and subjects with idiopathic hyperaldosteronism (n=30), compared with 78 patients with normal to high renin essential hypertension and 126 normotensive control subjects. The relationship of -344C/T genotypes to basal and postcaptopril plasma aldosterone/plasma renin activity ratio was also examined in the entire hypertensive population. An increased frequency of the T allele and a relative excess of TT homozygosity over CC homozygosity were found in patients with idiopathic low renin hypertension in comparison with both normal to high renin hypertensives and normotensive controls. A higher post-captopril aldosterone to renin ratio was found in the hypertensives with TT genotype than in those with CC genotype, and TT+TC genotypes were associated with a smaller decrease in the aldosterone-to-renin ratio elicited by captopril administration. The present study suggests that the -344C/T polymorphism, or a functional variant in linkage disequilibrium with it, may play a role in the abnormal regulation of aldosterone secretion in idiopathic low renin hypertension.
authors.affiliation: 2nd Unit of Internal Medicine, Santa Maria Nuova Hospital, Reggio Emilia, Italy. rossi.ermanno@asmn.re.it
authors.forename: E
authors.initials: E
authors.lastname: Rossi
authors.forename: G
authors.initials: G
authors.lastname: Regolisti
authors.forename: F
authors.initials: F
authors.lastname: Perazzoli
authors.forename: A
authors.initials: A
authors.lastname: Negro
authors.forename: S
authors.initials: S
authors.lastname: Davoli
authors.forename: D
authors.initials: D
authors.lastname: Nicoli
authors.forename: C
authors.initials: C
authors.lastname: Sani
authors.forename: B
authors.initials: B
authors.lastname: Casali
mesh_terms: D000450:Aldosterone / Q000097:blood / Q000235:genetics; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D002216:Captopril / Q000627:therapeutic use; D019405:Cytochrome P-450 CYP11B2 / Q000187:drug effects / Q000235:genetics*; D005787:Gene Frequency / Q000187:drug effects / Q000235:genetics; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000188:drug therapy* / Q000209:etiology*; D007558:Italy; D011110:Polymorphism, Genetic / Q000187:drug effects / Q000235:genetics*; D011188:Potassium / Q000097:blood; D012083:Renin / Q000097:blood* / Q000187:drug effects / Q000235:genetics*
chemical_list: D000806:Angiotensin-Converting Enzyme Inhibitors; D000450:Aldosterone; D002216:Captopril; D019405:Cytochrome P-450 CYP11B2; D012083:Renin; D011188:Potassium