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Purpose: The rs9982601 (C/T) is a single nucleotide polymorphism located in the intergenic region between SLC5A3/MRPS6/KCNE2 genes. It was shown to be associated with early-onset myocardial infarction in a genome-wide association study with thymine (T) as a risk allele (1). The mechanism, however, remains unknown. The aim of our study was to investigate the association of the polymorphism with 5-year overall mortality in patients with ST-Elevation Myocardial Infarction (STEMI) treated invasively. Methods: We included in our registry consecutive patients with STEMI treated with primary PCI who survived 48 hours from hospital admission. Genotyping was performed with a TaqMan SNP Genotyping Assay using the ABI 7500 Real Time PCR System (Applied Biosystems). The analyzed end-point was total 5-year mortality. Results: The study group comprised 624 patients (mean age 62.4±12 years; 25.1% of females, n=157; TIMI 3 obtained in 92.1%, n=575). The percentages of CC, CT and TT genotypes were: 71.8% (n=448), 25.8% (n=161) and 2.4% (n=15), consecutively. The 5-year total mortality was 16.3% (n=102). When all the study group was analyzed, no significant differences were found between the genotypes, neither in clinical characteristics nor in mortality. There died 15.6% (n=70) of CC homozygotes and 18.2% (n=32) of T allele carriers (p>0.05, log-rank test). However, in a subgroup of high-risk patients (Grace risk score ≥155 points, n=254), CC low-risk homozygotes (n=186) had significantly better survival compared to other genotypes (n=68): 22.6% (n=42) vs. 38.2% (n=26), (p=0.012, log-rank test). Conclusions: The T allele of the rs9982601 polymorphism of the intergenic region between SLC5A3/MRPS6/KCNE2 genes is associated with increased 5-year mortality in high-risk patients with STEMI. Reference: 1. Nat Genet. 2009; 41: 334–341.