P337Homozygous polymorphism of gene transcription factor SP4 is associated with hereditary sick sinus syndrome

Abstract

Abstract PURPOSE The human transcription factor SP4 has functional polymorphism on А80807Т. Our study aimed to confirm that gene transcription factor SP4 polymorphism affect hereditary sick sinus syndrome. METHODS Polymerase chain reaction-restriction fragment length polymorphism was used to screen for А80807Т. We genotyped polymorphism А80807Т of the transcription factor SP4 in 109 patients with hereditary sick sinus syndrome, 59 their healthy relatives and 196 control subjects. Structure of primers was as follows: 1) 5’-aaatgaggacaatgaaaagcaca-3’- direct (A) 2) 5’-gcctaagctgctactatttcagtg3’- reverse(A - com) 3) 5’-catttctcaattgcctgctataga-3’ – reverse (T) 4) 5’-actgttgccctttgttgcca-3’ – direct (T - common), RESULTS Patients with the T80807Т genotype shaved associate with hereditary sick sinus syndrome more frequently than in controls and those with А80807Т and А80807A (P < 0.05). Presence of a T80807Т genotype was associated with an increased odds of having hereditary sick sinus syndrome. CONCLUSIONS Our data suggest that patients with the T80807Т genotype of the gene transcription factor SP4 are at increased risk to develop hereditary sick sinus syndrome.