Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting 1-2% of the general population. Some common variants located in or next to PITX2 and NEURL1 genes are proved to play role in the occurrence of AF. The aim of our study was to investigate whether rs2595104 in the 4q25 chromosome region and rs6584555 SNP in the NEURL1 gene on chromosome 10 is associated with AF in a Caucasian population. We genotyped DNA samples of 76 AF patients and 77 healthy controls using quantitative real-time PCR followed by melting curve analysis. The minor A allele frequency of rs2595104 in PITX2 was 0.38 and 0.44 in the control group and in AF patients, respectively. There was no significant difference in allele and genotype distribution between the two groups (p = 0.52). The allele frequency based log additive odds ratio is 1.22 (C.I. = 0.76-1.94; p = 0.42). The frequency of minor rs6584555 C allele in NEURL1 was 0.22 in the control group and 0.23 in AF patients. Again there were no significant differences in allele and genotype frequencies between AF patients and controls (p = 0.92). The log additive odds ratio is 1,15 (C.I. = 0.66-2.01; p = 0,63). The heterozygous genotype of rs2595104 had the highest frequency compared to the other genotypes in both groups. In case of the rs6584555 SNP the homozygous genotype of the major allele (TT) had the highest frequency in both groups (0.59). The frequency of homozygous genotype for risk allele had the lowest frequency for both SNPs [rs2595104 (AA): 0.19 in patients, 0.12 in controls; rs6584555 (CC): 0.05 in patients, 0.03 in controls]. We did not find significant association between SNP rs2595104 and rs6584555 andAF. We performed a protein-protein network analysis to assess functional connection among the protein products. The proteins coded by PITX2 and NEURL1 are connected indirectly via CTNNB1 and either JAG1 or DLL4 proteins. These interactive proteins are components of two major channels of cell communication pathways, the Wnt and Notch signaling pathways.
Keywords: Atrial fibrillation; NEURL1; PITX2; Single nucleotide polymorphism; rs2595104; rs6584555.
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