The Effect of Genetic Variations in the FADS1 Gene on Fatty Acid Metabolism

FADS1 is a key regulator of fatty acid metabolism with important implications for athlete health and performance. Mutations in the FADS1 gene have been linked to a variety of adverse health conditions, in addition to alterations in biochemical levels of fatty acids. Polyunsaturated fatty acids, including omega-3 and omega-6 fatty acids, are associated with rates of inflammation, immune function, and brain health in athletes. The purpose of this study was to explore the relationship between genetic variability, specifically in the FADS1 gene, and fatty acid metabolism in an athletic population. Methods: 20 collegiate football players were recruited for this study. Saliva samples were collected for the purpose of obtaining genetic information. Serum samples for ALA, AA, EPA, and DHA were collected to measure omega-3 and omega-6 fatty acid levels. Genotypes and serum measurements were compared using 3x3 Fisher Exact tests, and the online software PROVEAN was used to identify potential novel variants in the FADS1 gene. Results of this exploratory study suggest the minor allele for 9 variants in the FADS1 gene decrease baseline serum levels of EPA. These results suggest that genetic data may be useful in assessing individual athlete risk for n-3 PUFA deficiency and associated health consequences. Subsequently, this may allow athletes and sports practitioners to make better informed decisions about individual intake and supplementation of n-3 PUFAs, specifically, EPA and DHA.