title: Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland.
abstract: Glucocorticoid-remediable aldosteronism (GRA), also known as familial hyperaldosteronism type I (FH-I, OMIM 103900), is a monogenic form of inherited hypertension caused by the presence of a chimaeric gene originating from an unequal cross-over between the CYP11B1 (11beta-hydroxylase) and CYP11B2 (aldosterone synthase) genes. The hybrid gene has the CYP11B1 sequence at the 5' end, including the promoter, and the CYP11B2 sequence at the 3' end. The aim of our study was to evaluate the prevalence of GRA in a Polish population of 129 patients with primary hyperaldosteronism (PHA) and 132 patients with essential hypertension (EH), through the use of a PCR-based test revealing the chimaeric gene. None of our PHA or EH patients was positive for the CYP11B1/CYP11B2 chimaeric gene. These data suggest that GRA is unlikely to be a common cause of hypertension in Polish subjects. However, the real prevalence of GRA in Poland, both in the high-risk group of individuals with primary hyperaldosteronism and in the general population, remains to be established.
authors.affiliation: Department of Pathobiochemistry and Molecular Biology, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland.
authors.forename: Grazyna
authors.initials: G
authors.lastname: Adler
authors.forename: Krystyna
authors.initials: K
authors.lastname: Widecka
authors.forename: Mariola
authors.initials: M
authors.lastname: Peczkowska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Dobrucki
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Placha
authors.forename: Radosław
authors.initials: R
authors.lastname: Drozd
authors.forename: Miłosz
authors.initials: M
authors.lastname: Parczewski
authors.forename: Andrzej
authors.initials: A
authors.lastname: Januszewicz
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Gaciong
authors.forename: Andrzej
authors.initials: A
authors.lastname: Ciechanowicz
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D002678:Chimera; D003434:Crossing Over, Genetic; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006929:Hyperaldosteronism / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006973:Hypertension / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D011401:Promoter Regions, Genetic / Q000235:genetics; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase