INTRODUCTION rs9982601 (C>T) is a polymorphism of the noncoding region between the SLC5A3/MRPS6 and KCNE2 genes. It has been shown to be associated with early‑onset myocardial infarction (MI) with T as a risk allele.

OBJECTIVES The aim of our study was to investigate the association of the rs9982601 polymorphism with long‑term overall mortality from MI and prevalence of MI in a Polish population.

PATIENTS AND METHODS The study involved patients with MI treated invasively. Individuals who underwent paternity testing served as a population group. Genotyping was performed by the TaqMan method. The analyzed endpoint was the overall long‑term mortality.

RESULTS The study group comprised 981 patients (mean age, 62.8 ±12.1 years; 259 women [26.4%]). The percentages of TT, CT, and CC genotypes were 3.1%, 25.6%, and 71.3%, respectively, in the whole group, and 2.4%, 16.8%, and 80.8% (P = 0.01) in the population group (n = 167). During follow‑up (median, 1826 days), 157 patients died (16%). No significant differences were observed between the genotypes either in clinical characteristics or in mortality. However, in a subgroup of high‑risk patients (GRACE risk score of 155 points or higher, n = 428), low‑risk CC homozygotes had a significantly better survival rate compared with the other genotypes (hazard ratio, 0.64; 95% confidence interval, 0.43–0.96; P = 0.03).

CONCLUSIONS We showed that the rs9982601 polymorphism of the region between SLC5A3/MRPS6 and KCNE2 genes is associated with long‑term mortality in high‑risk patients after MI. Additionally, our study supports the previous reports on the correlation of this polymorphism with the prevalence of MI.