2008, Number 2
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Arch Cardiol Mex 2008; 78 (2)
Genetic study of the vasovagal syncope associated to the Arg389Gly polymorphism of the β1adrenergic receptor
Hernández-Pacheco G, Serrano H, Márquez MF, Hermosillo AG, Pérez-Vielma N, Sotomayor A, Ferreira-Vidal AD, Salas-Silva E, Cárdenas M
Language: Spanish
References: 16
Page: 134-138
PDF size: 118.77 Kb.
ABSTRACT
The purpose of this study was to evaluate the correlation between the vasovagal syncope (VVS) and the β1 adrenergic receptor polymorphism at the 389 position. Seventy individuals with VVS were selected. DNA was extracted from peripheral blood by salting out and subjected to the amplification-restriction test. Genotype identification was made by polyacrylamide gel electrophoresis. A higher frequency in genotype and allele frequencies were found in individuals with positive tilted table test respect individuals with negative test, as well as a marked preference of the GlyGly phenotype in women. Genotype Arg389Gly was the most frequent between individuals with positive response in passive phase with respect to those in the induced phase. When the genotype was analyzed based on the hemodynamic response (VASIS) a gradient is observed in the frequency of Arg389Gly with the highest major frequency in the cardio-inhibitory response followed by the mixed response, and finally the vasodepressor response. These results suggest that the SVV has a genetic component associated with the Arg389Gly polymorphism of the adrenergic receptor. The Gly allele has a high risk association and it is maintained in the population through heterozygosis.
REFERENCES
Soteriades E, Evans J, Larson M, Chen M, Chen L, Benjamin E, et al: Incidence and prognosis of syncope. N Engl J Med 2002; 347: 878-885.
Benditt DG: Syncope. En: Podrid PJ, Kowey PR. Cardiac arrhythmia. Mechanism, diagnosis and management. 2nd Ed. Philadelphia, Lippincott Williams and Wilkins, Co. 2001, pp. 931.
Márquez MF, Urías KI, Hermosillo AG, Jardón JL, Iturralde P, Colín L, et al. Familial vasovagal syncope. Europace 2005; 7: 472-474.
Newton JL, Kerr S, Pairman J, McLaren A, Norton M, Kenny RA, et al: Familial neurocardiogenic (vasovagal) syncope. Am J Med Genet 2005; 133A: 176-179.
Camfield PR. Camfield CS: Syncope in childhood: a case control clinical study of the family tendency to faint. Can J Neurol Sci 1990; 17: 306-308.
Frielle T, Collins S, Daniel KW, Caron MG, Lefkowitz RJ, Kobilka BK: Cloning of the cDNA for the human b1-adrenergic receptor. Proc Natl Acad Sci USA 1987; 84: 7920-7924.
Sandilands AJ, O’Shaughnessy KM, Brown MJ: Greater inotropic and cyclic AMP responses evoked by noradrenaline through Arg389 beta 1-adrenoceptors versus Gly389 beta 1-adrenoceptors in isolated human atrial myocardium. Br J Pharmacol 2003; 138: 386-392.
Bengtsson K, Melander O, Orho-Melander M, Lindblad U, Ranstam J, Rastam L, et al: Polymorphism in the beta(1)-adrenergic receptor gene and hypertension. Circulation 2001; 104: 187-190.
Lahiri DK, Nurnberger JI: A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res. 1991; 19: 5444.
Maqbool A, Hall AS, Ball SG, Balmforth AJ: Common polymorphisms of b1-adrenoceptor: Identification and rapid screening assay. Lancet 1999; 353: 897.
Woolf B: On estimating the relation between blood groups and disease. Ann Hum Genet 1955; 19: 251-253.
Iwai C, Akita H, Shiga N, Takai E, Miyamoto Y, Shimizu M, et al: Suppressive effect of the Gly389 allele of the beta1-adrenergic receptor gene on the occurrence of ventricular tachycardia in dilated cardiomyopathy. Circ J 2002; 66: 723-8.
Forleo C, Resta N, Sorrentino S, Guida P, Manghisi A, De Luca V, et al: Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy. Am J Med 2004; 117: 451-458.
Magnusson Y, Levin MC, Eggertsen R, Nystrom E, Mobini R, Schaufelberger M, et al: Ser49Gly of beta1-adrenergic receptor is associated with effective beta-blocker dose in dilated cardiomyopathy. Clin Pharmacol Ther 2005; 78: 221-31.
Mason DA, Moore JD, Green SA, Liggett: A gain of function polymorphism in a G-protein coupling domain of the human b1-adrenergic receptor. J Biol Chem 1999; 274: 12670-12674.
Bruck H, Leineweber K, Temme T, Weber M, Heusch G, Philipp T, et al: The Arg389Gly beta1-adrenoceptor polymorphism and catecholamine effects on plasma-renin activity. J Am Coll Cardiol 2005; 46: 2111-2115.