Investigation of snps during development of atrial fibrilation in elderly patients

Atrial Fibrillation (AF) is the most commonly observed type of arrhythmia among all cardiological pathologies. Several factors are involved in the pathogenesis of AF. Current knowledge existing in the literature cannot elucidate the exact etiopathology of the disease. The aim of this thesis is to investigate the single nucleotide gene polymorphisms of the candidate proteins who are over the age of 65 and who developed atrial fibrillation and thereby to have a better understanding of AF from a molecular perspective. For this thesis project, blood samples taken from 150 healthy volunteers and from 151 patients, who applied to the department of Cardiology, Ege University Medical Faculty and diagnosed with AF, were used. From the blood samples, total DNA was isolated, genotyping of the determined mutations using real time PCR (RT-PCR) was performed and the results were statistically analysed and evaluated. Single Nucleotide Polymorphism (SNP) variants of the candidate genes thought to be associated with AF were determined. These are SMAD3 rs138550573, IGF-1 rs202145836, MMP2 rs243865 and GJA1 rs13216675 and IL6R rs4845625 polymorphisms. In the MMP2 (rs 243865) polymorphism studied in this study, a statistical significance was found in C and T allele frequencies between patients and controls (p=0.0053). There are no statistically significant differences determined for genotype and allele frequencies in other polymorphisms studied. The results we obtained support the association of MMP2 rs243865 with AF. This result suggests that matrix metalloproteinases could be a factor that needs to be studied in more detail to explain the relationship between age and atrial fibrillation. Keywords: Atrial fibrillation; SNP; Gene polymorphism, SMAD-3; IGF1; MMP2; GJA1; IL6R