P339
Ser49Gly of beta1-adrenergic receptor is associated with hereditary sick sinus syndrome

The human beta(1)-adrenergic receptor (ADRB1), an important therapeutic target in cardiovascular diseases, has functional polymorphism on Ser49Gly. Our study aimed to confirm that beta(1)-adrenergic receptor polymorphisms affect hereditary sick sinus syndrome. 

Polymerase chain reaction-restriction fragment length polymorphism was used to screen for Ser49Gly. We genotyped polymorphism Ser49Gly of the beta1-AR in 108 patients with hereditary sick sinus syndrome, 59 their healthy relatives and 198 control subjects. Structure of primers was as follows: common 5’-TTGCT-GCCTC-CCGCC-AGCGA-TG-3’, wild 5’-TTGCT-GCCTC-CCGCC-AGCGA-CA-3’, mutant 5’-TCACG-CACAG-CACGT-CCACT-GA-3’. 

Patients with the Ser49Gly genotype shaved associat with hereditary sick sinus syndrome more frequently than in controls and those with Ser49Ser and Gly49Gly (P < 0.01).The patients carrying 49 Gly in the ADRB1 gene was significantly higher odds in SSS than in patients without this allele (p < 0.05). Presence of a Gly49 allele was associated with an increased odds of having hereditary sick sinus syndrome. 

Our data suggest that patients with the Ser49Gly genotype and Gly49 allele of the beta(1)-adrenergic receptor gene are at increased risk to develop hereditary sick sinus syndrome.