On Sports And Genes
Gili Zilberman-Schapira, Jieming Chen and Mark Gerstein
Affiliation: Program in Computational Biology and Bioinformatics, Yale University 06520.
Keywords: Athletic performance, genomics, genomic polymorphisms, elite athletes, angiotensin I-converting enzyme, Alphaactinin 3, Peroxismose proliferator-activator receptor alpha, Nitric Oxide Synthase 3.
Our genes influence our athletic ability. However, the causal genetic factors and mechanisms, and the extent of
their effects, remain largely elusive. Many studies investigate this association between specific genes and athletic performance.
Such studies have increased in number over the past few years, as recent developments and patents in DNA sequencing
have made large amounts of sequencing data available for such analysis. In this paper, we consider four of the
most intensively studied genes in relation to athletic ability: angiotensin I-converting enzyme, alpha-actinin 3, peroxismose
proliferator-activator receptor alpha and nitric oxide synthase 3. We investigate the connection between genotype
and athletic phenotype in the context of these four genes in various sport fields and across different ethnicities and genders.
We do an extensive literature survey on these genes and the polymorphisms (single nucleotide polymorphisms or indels)
found to be associated with athletic performance. We also present, for each of these polymorphisms, the allele frequencies
in the different ethnicities reported in the pilot phase of the 1000 Genomes Project – arguably the largest human
genome-sequencing endeavor to date. We discuss the considerable success, and significant drawbacks, of past research
along these lines, and propose interesting directions for future research.
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