The rs9982601 polymorphism of the region between the SLC5A3/MRPS6 and KCNE2 genes associated with a prevalence of myocardial infarction and subsequent long-term mortality

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.