Relevance of KCNE1, SCN5A and eNOS gene polymorphisms in Tunisian atrial fibrillation patients

Atrial fibrillation (AF) is the most prevalent arrhythmia in clinical practice. In this complex multifactorial disorder, the association with several genetic factors has been proposed, such as the 112A>G polymorphism in KCNE1 (S38G variant), 1673A>G in SCN5A (H558R variant) and the -786T>C promoter variant in the eNOS gene. However, the association of these polymorphisms with AF remains controversial suggesting that the association may depend on the ethnic background. A total of 102 consecutive patients diagnosed with AF and 106 control subjects were recruited for a case-control study. 112A>G genotyping was carried out by direct sequencing, while 1673A>G and -786T>C were performed by PCR-RFLP and confirmed by sequencing as well. Pearson’s chi-squared test (χ2) was used to compare allele frequencies, genotype and polymorphism combination distributions. Association between AF and genetic variations was assessed by logistic regression analysis. The allele and genotype frequencies of each polymorphism did not differ between patients and controls. These results indicate that carrying the polymorphisms 112A>G, 1673A>G or -786T>C individually, did not predispose to AF. However, the combination of the KCNE1 and eNOS polymorphism was more frequent in patients compared to controls, but this trend was not statistically significant. Thus, the results indicate that carrying either the KCNE1, SNC5A or eNOS variant alleles does not increase AF predisposition in the Tunisian population.

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