Data Sheet 1_Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance.pdf

Athletic performance is a multifactorial trait influenced by both genetic and environmental factors. Evolutionary pressure can lead to seemingly contradictory effects of genetic mutations, and carriers of deleterious mutations may exhibit advantages. The objective of our exploratory study was to identify rare deleterious variants influencing athletic success. A total of 101 top-elite Polish athletes were recruited for the whole-genome sequencing analysis. We identified a variant in the FANCI gene (rs121918164, R1285*) in three unrelated top-elite athletes. This variant was absent in a large group of subjects from the same population: the national-elite athletes group (n = 890) who presented a lower level of sporting success and non-athletes (n = 1,009). Although, the R1285* FANCI variant is predicted to be damaging, we hypothesize that under certain conditions its carriers may have gained an advantage that facilitates success in sports. However, due to the limitations of the study, our observations require further investigation and validation in a larger and more diverse study groups.