BRIEF RESEARCH REPORT article
Front. Genet.
Sec. Applied Genetic Epidemiology
Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports
Provisionally accepted
Mariusz Berdyński1*
Małgorzata Borczyk2
Kinga Humińska-Lisowska3
Michal Korostynski2
Paweł Cięszczyk3
Cezary Zekanowski1- 1Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland
- 2Instytut Farmakologii im Jerzego Maja Polskiej Akademii Nauk, Kraków, Poland
- 3Akademia Wychowania Fizycznego i Sportu im Jedrzeja Sniadeckiego w Gdansku, Gdańsk, Poland
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Athletic performance is a multifactorial trait influenced by both genetic and environmental factors. Evolutionary pressures can lead to seemingly contradictory effects of genetic mutations, and carriers of deleterious may exhibit advantages. The objective of our exploratory study was to identify rare deleterious variants influencing athletic success. One hundred and one 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) presented a lower level of sporting success and non-athletes (n=1009). 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.
Keywords: elite athletes, Fanconi Anemia, genetic predisposition, Genomic variant, Mutation
Received: 13 Nov 2025; Accepted: 05 Jan 2026.
Copyright: © 2026 Berdyński, Borczyk, Humińska-Lisowska, Korostynski, Cięszczyk and Zekanowski. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Mariusz Berdyński
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