[C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk].
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.
Sartori
Michelangelo
M
Clinica Medica 4, Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Padova.
Parotto
Emanuela
E
Ceolotto
Giulio
G
Papparella
Italia
I
Lenzini
Livia
L
Calò
Lorenzo A
LA
Semplicini
Andrea
A
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
D044387:GTP-Binding Protein beta Subunits; D005819:Genetic Markers; D003596:Cytosine; D013941:Thymine