INTRODUCTION: Both the scientific and sporting communities agree that genetic factors contribute to athletic performance. The estimated percentage of the heredity of athletic status is 66%. Currently, around 155 genetic markers are linked to endurance and strength/power traits. Thus, we aimed to investigate whether selected MCT1 rs1049434, NRF-2 rs12594956, MYBPC3 rs1052373, HFE rs1799945 polymorphisms, which have been described as associated with elite sprint/power abilities, are associated with endurance capacity of the high-elite Polish athletes. METHODS: 53 power and 48 strength high-elite Polish athletes- Olympic Championships medallists were included in a study. Additionally, the control group consisted of 41 healthy Polish individuals. WGS was performed using the following parameters: 150PE, 30x coverage, at least 90GB of data/sample. The following filters were applied per each group: mean GQ > 50, mean DP > 5, HWE p-value > 0.05. RESULTS: 74 variants in the MCT1 gene, 47 variants in the MYBPC3, 158 variants in the NRF-2 (GABPB1), and 33 variants in the HFE passed all filters and underwent data analysis. We focused on MCT1, MYBPC3, NRF-2 and HFE polymorphisms . Out of all analyzed polymorphisms, only one did not meet HWE criteria - MCT1 rs1049434. This was due to an excess of T allele only in Polish elite athletes. No statistically significant between-group differences were found for any of analyzed polymorphisms. CONCLUSION: Our study provides evidence of the overrepresentation of the T allele of MCT1 rs1049434 polymorphism in the group of Polish elite sportsmen, leading to a violation of the Hardy-Weinberg assumption. Small group size could lead to such results and therefore future research should include a higher number of participants.
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