Actn3 genotype screen for athletic performance

Abstract

The present invention concerns novel methods of selecting or matching a sport or sporting event to an individual (e.g. a sprint/power sport or an endurance sport) and predicting athletic performance, the methods involving assessing ACTN3 genotype. In alternative embodiments, training regimens may be optimally designed for athletes by assessing the ACTN3 genotypes. Certain embodiments concern combining the assessment of the ACTN3 genotype with other known fitness-related genes to better assess the athletic potential of an individual. In addition, the genotypic analysis of the ACTN3 gene may be combined with physiological tests, physical measurements and/or psychological assessments to more optimally design a training regimen for an individual athlete.

1 - 32 . (canceled) 
     
     
         33 . A method to predict athletic performance in an individual comprising:
 a) screening the individual for the presence of one or more genetic variations in the alpha-actinin-3 (ACTN3) gene; and   b) predicting athletic performance based on the presence of the one or more genetic variations.   
     
     
         34 . The method of claim  1 , wherein the individual is a human, horse, dog or camel. 
     
     
         35 . The method of claim  1 , comprising screening the individual for a 1747 C>T single nucleotide polymorphism (SNP) in the ACTN3 gene. 
     
     
         36 . The method of claim  1 , comprising genotyping the individual at the ACTN3 locus. 
     
     
         37 . The method of claim  1 , wherein the presence of at least one copy of the 577R allele of the ACTN3 gene is positively associated with sprinting or power performance. 
     
     
         38 . The method of claim  1 , wherein
 i) genotyping the individual as a 577RR genotype is positively associated with sprinting or power performance,   ii) genotyping the individual as a 577XX genotype is negatively associated with sprinting or power performance,   iii) genotyping the individual as a 577XX genotype is positively associated with endurance performance,   iv) genotyping the individual as a 577RX genotype is positively associated with sprinting or power performance in female individuals, and   v) genotyping the individual as a 577RX genotype is negatively associated with endurance performance in female individuals.   
     
     
         39 . The method of claim  1 , comprising measuring the amount of ACTN3 protein present in the individual's skeletal muscle. 
     
     
         40 . The method of claim  7 , wherein the amount of ACTN3 protein is measured using an antibody specific for the ACTN3 protein. 
     
     
         41 . The method of claim  1 , comprising measuring the amount of ACTN3 messenger RNA (mRNA) expressed in the individual's skeletal muscle. 
     
     
         42 . The method of claim  1 , comprising identifying the 1747 C>T SNP alleles in the individual's genomic DNA by DNA sequencing, allele-specific hybridization, allele-specific amplification or restriction fragment length polymorphism analysis. 
     
     
         43 . The method of claim  1 , further comprising screening the individual for the presence of one or more genetic variations in at least one other gene. 
     
     
         44 . The method of claim  11 , wherein the at least one other gene is ACE (angiotensin-converting enzyme) I allele, the ACE D allele, and/or ADRA2A (Alpha-2A-adrenergic receptor) allele. 
     
     
         45 . The method of claim  12 , wherein
 i) the ACE I allele is positively associated with endurance performance, and   ii) the ACE D allele is positively associated with sprinting or power performance.   
     
     
         46 . The method of claim  1 , further comprising screening the individual using a test selected from the group consisting of VO2 maximum, anaerobic threshold test, Wingate test, critical power, resting metabolic rate, body composition, speed testing, power testing, strength testing, flexibility testing, muscle biopsy, fast twitch fiber test and slow twitch fiber test. 
     
     
         47 . A method of optimizing a training program comprising:
 a) screening the individual for the presence of one or more genetic variations in the α-actinin-3 (ACTN3) gene; and   b) selecting the individual's training program to optimize strength performance, power performance or endurance performance.   
     
     
         48 . A method of selecting a sport or sporting event for an individual comprising:
 a) screening the individual for the presence of one or more genetic variations in the α-actinin-3 (ACTN3) gene; and   b) selecting a sprint/power type sport or event or, otherwise, and endurance sport or event on the basis of the result of the said screening.