# Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance

## TL;DR

A potentially harmful gene variant linked to DNA repair may help some athletes perform better, suggesting genetic mutations can have unexpected benefits.

## Contribution

The study identifies a rare FANCI gene variant in top athletes, suggesting a possible link between a pathogenic mutation and enhanced sports performance.

## Key findings

- A rare FANCI variant (rs121918164, R1285*) was found in three top-elite athletes but not in non-athletes or national-elite athletes.
- The variant is predicted to be damaging but may confer a performance advantage under certain conditions.
- Further research is needed to validate the potential beneficial effects of this variant in sports performance.

## Abstract

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.