title: [C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk].
abstract: Hypertension is a common disorder of multifactorial origin that constitutes a major risk factor for cardiovascular events such as stroke and myocardial infarction. The subunits of the heterotrimeric G proteins are attractive candidate gene products for both susceptibility to essential hypertension and interindividual variation in blood pressure. A polymorphism (825C/T) in exon 10 of the GNB3 gene, that encodes for the beta3 subunit, has recently been described. The 825T allele is associated with alternative splicing of the gene and formation of a truncated but functionally active beta3 subunit. Carriers of the 825T allele appear to have an increased risk for hypertension, obesity, insulin-resistance and left ventricular hypertrophy. Moreover, 825T allele carriers respond with a stronger decrease in blood pressure to therapy with a thiazide diuretic and with clonidine. GNB3 825T allele may be regarded as a potential genetic marker for a better definition of the risk profile of hypertensive subjects, but further studies are needed to precisely define the impact of T allele on the prognosis of such patients.
authors.affiliation: Clinica Medica 4, Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Padova.
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Sartori
authors.forename: Emanuela
authors.initials: E
authors.lastname: Parotto
authors.forename: Giulio
authors.initials: G
authors.lastname: Ceolotto
authors.forename: Italia
authors.initials: I
authors.lastname: Papparella
authors.forename: Livia
authors.initials: L
authors.lastname: Lenzini
authors.forename: Lorenzo A
authors.initials: LA
authors.lastname: Calò
authors.forename: Andrea
authors.initials: A
authors.lastname: Semplicini
mesh_terms: D002318:Cardiovascular Diseases / Q000235:genetics*; D003596:Cytosine; D003928:Diabetic Nephropathies / Q000235:genetics; D044387:GTP-Binding Protein beta Subunits / Q000235:genetics*; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D006973:Hypertension / Q000235:genetics; D017379:Hypertrophy, Left Ventricular / Q000235:genetics; D007333:Insulin Resistance; D009765:Obesity / Q000235:genetics; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013941:Thymine
chemical_list: D044387:GTP-Binding Protein beta Subunits; D005819:Genetic Markers; D003596:Cytosine; D013941:Thymine