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TALENT IDENTIFICATION
AND GENETICS
THE FUTURE OF ATHLETIC PERFORMANCE
AUTHOR
• TONY O BRIEN
• QUALIFIED WITH A BA (HONS) IN SPORTS MANAGEMENT AND GAINED AN MSC IN SPORT AND
EXERCISE SCIENCE (LEEDS METROPOLITAN UNIVERSITY) AND A FURTHER MSC IN STRENGTH
AND CONDITIONING FROM ST MARY’S UNIVERSITY COLLEGE. DURING HIS TIME AT ST MARY’S,
TONY RESEARCHED EXTENSIVELY THE APPLICATION OF DIFFERING PERIODIZATION MODELS ON
THE ACQUISITION OF STRENGTH, SPEED AND AGILITY IN FIELD BASED SPORTS. IN ADDITION
HE QUALIFIED AS A TEACHER, GRADUATING WITH A CERT ED FROM MANCHESTER UNIVERSITY.
• TONY HAS EXTENSIVE EXPERIENCE IN PROFESSIONAL RUGBY BOTH AS A SKILLS AND S & C
COACH SINCE 1995 WORKING WITH SUPER LEAGUE TEAMS, SHEFFIELD EAGLES, WARRINGTON
WOLVES, HULL KR AND CASTLEFORD TIGERS AS WELL AS CONNAUGHT IN THE RABO DIRECT.
AIMS AND INTRODUCTION
• THIS POD CAST PRESENTS THE MAJOR GENETIC VARIANTS –AS SELECTED BY THE
AUTHORS- ASSOCIATED WITH SPECIFIC ASPECTS OF SPORTS PERFORMANCE, AND
DETAILS HOW INFORMATION FROM DNA PROFILING CAN BE USED TO;
• INDIVIDUALIZE AND PERSONALIZE TRAINING PROGRAMS, NUTRITION AND
NUTRITIONAL SUPPLEMENTATION, TO ACHIEVE OPTIMAL ATHLETIC PERFORMANCE
AND HEALTH OF AN ATHLETE.
VARIATION
• HUMAN VARIATION IS THE CENTRAL OBJECT OF
INTEREST IN HUMAN GENETICS
• VARIABILITY REPRESENTS THE SUBSTRATE OF HUMAN
GENETICS, WHICH AIMS TO DEFINE RELATIONSHIPS WITH:
• DNA SEQUENCE VARIATION
• GENE INTERACTION AND COACTIONS
• LIFESTYLE FACTORS
• ENVIRONMENTAL VARIABLES
TALENT SELECTION
• TALENT SELECTION, THE IDENTIFICATION OF PROMISING ATHLETES AT A YOUNG AGE ALLOWS
FOR AN EARLIER ADOPTION OF SPECIALIZED/DEDICATED TRAINING. HISTORICALLY, TALENT
IDENTIFICATION HAS BEEN BASED ON PHYSICAL AND PSYCHOLOGICAL CHARACTERISTICS
AND SPORT-SPECIFIC PERFORMANCE. GENETIC TESTING MAY PROVIDE AN ADDITIONAL WAY
TO PREDICT ADULT PERFORMANCE TRAITS PRIOR TO THEIR FULL DEVELOPMENT IN
UNTRAINED CHILDREN BY PROFILING COMBINATIONS OF GENE VARIANTS ASSOCIATED WITH
A PARTICULAR TRAIT. AS DNA SEQUENCE IS CONSTANT THROUGHOUT LIFE, GENETIC TESTING
CAN BE PERFORMED AS SOON AS A DNA SAMPLE IS AVAILABLE (IN INFANCY OR EVEN PRIOR
TO BIRTH
TALENT VS GENETIC MAKE UP
• GENOMIC DNA PROFILING FOR ATHLETIC PERFORMANCE REVEALS GENETIC VARIATIONS THAT
MAY BE ASSOCIATED WITH BETTER SUITABILITY FOR ENDURANCE, STRENGTH AND SPEED
SPORTS, VULNERABILITY TO SPORTS-RELATED INJURIES AND INDIVIDUALIZED NUTRITIONAL
REQUIREMENTS.
• KNOWLEDGE OF GENETIC ‘SUITABILITY’ IN RESPECT TO ENDURANCE CAPACITY OR STRENGTH
AND SPEED WOULD LEAD TO APPROPRIATE SPORT AND ATHLETIC ACTIVITY SELECTION.
• KNOWLEDGE OF GENETIC ADVANTAGES AND BARRIERS WOULD ‘DIRECT’ AN INDIVIDUALIZED
TRAINING PROGRAM, NUTRITIONAL PLAN AND NUTRITIONAL SUPPLEMENTATION TO
ACHIEVING OPTIMAL PERFORMANCE, OVERCOMING ‘BARRIERS’ THAT RESULTS FROM INTENSE
EXERCISE AND PRESSURE UNDER COMPETITION WITH MINIMUM WASTE OF TIME AND ENERGY
AND AVOIDANCE OF HEALTH RISKS OR INJURY RELATED TO EXERCISE, TRAINING AND
COMPETITION.
ENDURANCE ABILITY
• PERFORMANCE OF INDIVIDUALS IN ENDURANCE AND MIXED AEROBIC-ANAEROBIC SPORTS
DEPENDS ON AEROBIC POWER.
• AEROBIC POWER IS DEFINED AS THE MAXIMUM AMOUNT OF OXYGEN WHICH THE BODY CAN
UTILIZE USUALLY DURING INTENSE EXERCISE.
• AEROBIC POWER HAS A STRONG GENETIC BASIS, AND CONTRIBUTES SIGNIFICANTLY TO THE
PERFORMANCE OF AN INDIVIDUAL IN ENDURANCE SPORTS.
• ELITE ENDURANCE ATHLETES OFTEN SHARE GENOMIC VARIANTS THAT AFFECT MAXIMAL
OXYGEN CONSUMPTION AND ENERGY SUPPLY OF AEROBIC METABOLISM.
• CERTAIN VARIANTS IN GENES SUCH AS ACE, NOS3, HIF1 ENHANCE OXYGEN SUPPLIES TO
MUSCLE TISSUES, AND FAVOUR INCREASED ENDURANCE.
MUSCLE PERFORMANCE
• MUSCLE STRENGTH AND GENERAL MUSCLE PERFORMANCE ARE MAJOR
FACTORS FOR ATHLETES INVOLVED IN POWER, SPRINT AND MIXED AEROBIC-
ANAEROBIC SPORTS.
• VARIANTS IN GENES AFFECTING OXYGEN SUPPLY TO MUSCLES AND ENERGY
CONSUMPTION AFFECT MUSCLE STRENGTH PHENOTYPES, AS WELL AS
ENDURANCE CAPACITY, EITHER WITH SIMILAR GENOTYPE EFFECTS (NOS3 AND
HIF-1, ENHANCING OXYGEN TRANSFER TO MUSCLES) OR DIFFERENT
GENOTYPE (ACE, ACTN3) EFFECTS.
• A MAJOR FACTOR FOR MUSCLE FATIGUE AFTER INTENSE POWER EXERCISE IS
THE RATES OF LACTIC ACID REMOVAL. A VARIANT IN THE MCT-1 GENE
AFFECTS LACTATE TRANSPORT CAPABILITY, AND THUS INTENSITY OF
PERFORMANCE (CUPEIRO R, 2010)
SPORTS DNA PROFILING IN PRACTICE
• DNA PROFILING CANNOT DETECT OR DETERMINE SUPERIOR ATHLETES
• CAN PREDICT ABILITIES AND WEAKNESSES ASSOCIATED WITH SPORTS PERFORMANCE.
• THE CONTINUING RESEARCH WITHIN THE FIELD OF GENETICS WILL HOWEVER IN FUTURE WILL
BE ABLE TO DETECT THE GENETIC EXPLOSIONS WHICH IS A TERM USED BY DAVID EPSTEIN IN
THE “SPORTS GENE”
• THE COMBINATION OF A SUITABLE DNA PROFILE WITHIN A SUPERIOR PERFORMANCE
STRUCTURE CAN AND WILL PRODUCE ELITE AND WORLD CLASS ATHLETES
• HERITABILITY OF ATHLETIC STATUS HAS BEEN ESTIMATED AT APPROXIMATELY 66% (DE
MOOR, ET AL, 2007)
• RESEARCHERS NOW FOCUSED TOWARDS GENETIC PROFILES WHICH WILL CONTRIBUTE TO
SPORT PERFORMANCE AND IDENTIFYING THE UNDERLYING MECHANISMS THAT WILL ALSO
IDENTIFY ELITE PERFORMERS ACROSS ALL SPORTS
ACTN3 POWER AND SPRINT PERFORMANCE
• THE RATE OF FORCE DEVELOPMENT (RFD) IS A CRUCIAL CONSIDERATION FOR SUCCESS IN
POWER AND SPRINT PERFORMANCE. THIS THEREFORE REQUIRES HIGH SPEED AND FORCEFUL
MUSCLE CONTRACTIONS WHICH IS DEPENDENT ON THE ANAEROBIC PATHWAYS AND THE
UTILIZATION OF INTRAMUSCULAR STORES OF CP, ATP AND GLUCOSE (MOLE ET AL, 1971)
• ALTERNATIVELY ELITE ENDURANCE ATHLETES REQUIRE SUSTAINED MUSCULAR CONTRACTION
OVER A LONG PERIOD OF TIME. IN ORDER TO ACHIEVE THIS, ATHLETES MUST HAVE A HIGH
VO2MAX LACTATE THRESHOLD ALONGSIDE A HOST OF TRADITIONAL ENDURANCE PHENOTYPES
WHICH FACILITATE INCREASES IN SEVERAL COMPONENTS OF THE MITOCHONDRIAL CHAIN (MOLE
ET AL, 1971)
ACTN3 POWER AND SPRINT PERFORMANCE
• IN 2003 YANG ET AL, DEMONSTRATED A SIGNIFICANT ASSOCIATION BETWEEN ACTN3
GENOTYPE AND ATHLETIC PERFORMANCE. THEY FOUND THAT BOTH MALE AND FEMALE ELITE
SPRINT ATHLETES HAVE SIGNIFICANTLY HIGHER FREQUENCIES OF THE 577R ALLELE COMPARE
TO CONTROLS.
• THE ACTN3 GENOTYPE IS ALSO ASSOCIATED WITH THE LEVEL OF ATHLETIC COMPETITION
ACHIEVED. AMONG OLYMPIC SPRINT ATHLETES, THERE WERE NO CASES OF ACTN3 577XX
GENOTYPE IN BOTH AUSTRALIAN AND ISRAELI ATHLETES (YANG ET AL 2003, EYNON ET AL ,
2009)
• TAIWANESE ELITE SWIMMERS (SHORT-DISTANCE) HAD SIGNIFICANTLY LOWER ACTN3 577XX
GENOTYPE FREQUENCY COMPARED WITH THEIR NON-ELITE COUNTERPARTS (CHIU ET AL, 2011)
ACTN3 AND ENDURANCE PERFORMANCE
• AS THE ACTN3 R ALLELE IS SUGGESTED TO BE ASSOCIATED WITH POWER
PERFORMANCE, ACTN3XX DOES APPEAR TO BE ASSOCIATED WITH ENDURANCE
(YANG ET AL 2007, MIN ET AT, 2009)
ANGIOTENSIN-CONVERTING ENZYME
INSERTION/DELETION (ACE I/D)
• THE ACE INSERTION /DELETION (ACE I/D) HAS BEEN RELATED WITH
IMPROVEMENTS IN PERFORMANCE AND EXERCISE DURATION IN A VARIETY OF
POPULATIONS, THE I ALLELE IS ASSOCIATED WITH ENDURANCE PHENOTYPES
AND THE D ALLELE WITH SPRINT AND POWER PHENOTYPES.
• RESEARCH BY SELINGEROVA ET AL, 2012 WAS FOCUSED ON DETERMINATION OF
GENETIC PREDISPOSITIONS FOR SPEED AND ENDURANCE. THE FIRST GROUP WAS
FORMED BY PUPILS OF ICE-HOCKEY CLASSES IN BRATISLAVA. THE AVERAGE AGE
OF 162 MEMBERS OF THIS GROUP WAS 13.0 YEARS. THE SECOND AND THIRD
GROUP INCLUDED ADULT ATHLETES (MARATHON RUNNERS N = 215 AND HALF-
MARATHON RUNNERS N = 222) AGED 18 TO 77 YEARS.
ANGIOTENSIN-CONVERTING ENZYME
INSERTION/DELETION (ACE I/D)
IN THE ICE HOCKEY PLAYERS IN COMPARISON TO THE CONTROL GROUP,
SIGNIFICANTLY HIGHER REPRESENTATION OF THE D/D GENOTYPE (35.5%) WAS
FOUND IN THE FASTER PLAYERS. IN CONTRAST THE PERCENTAGE OF THE D/D
GENOTYPE WAS LOWER (10%) IN THE BOYS WITH BELOW-AVERAGE RUNNING
SPEED. THE DIFFERENCE BETWEEN THE D AND I ALLELE IN THE FAST GROUP (IHI)
WAS INSIGNIFICANT; NEVERTHELESS THE WAS A SIGNIFICANT HIGH OCCURRENCE
OF THE I ALLELE IN THE SLOW GROUP (IH2)
ANGIOTENSIN-CONVERTING ENZYME
INSERTION/DELETION (ACE I/D)
• IN THE MARATHON RUNNERS SIGNIFICANT DIFFERENCES IN FREQUENCY OF THE
INDIVIDUAL ACE GENOTYPES WAS ALSO DISCOVERED ACCORDING TO THEIR RACE
PERFORMANCE (FIG 2, TABLE 2)
• IN TOP-PERFORMANCE MARATHON RUNNERS (PLACED NO WORSE THAN 50TH,
GROUP A) AND AVERAGE-PERFORMANCE MARATHON RUNNERS (PLACED 51ST TO
200TH, GROUPS M2-M4), DIFFERENCES BETWEEN INDIVIDUAL GENOTYPES WERE
FOUND ON THE LEVEL OF 5 % SIGNIFICANCE . IMPORTANT IS THAT D/D GENOTYPE
WAS NOT FOUND IN THE GROUP OF TOP MARATHON RUNNERS (GROUP M1). THE
LOWER THE PERFORMANCE, THE HIGHER WAS THE FREQUENCY OF D/D GENOTYPE.
THE HETEROZYGOUS FORM OF I/D GENOTYPE WAS HIGH IN RUNNERS PLACED NO
WORSE THAN 100TH (GROUPS M1 AND M2). STATISTICALLY SIGNIFICANT
DIFFERENCES (P ≤ 0.05) AGAINST THE CONTROL GROUP WERE FOUND ONLY IN THE
GROUPS OF THE FIRST THREE PERFORMANCE CATEGORIES (PLACED NO WORSE THAN
150TH).
ANGIOTENSIN-CONVERTING ENZYME
INSERTION/DELETION (ACE I/D)
• IN THE GROUP OF HALF-MARATHON RUNNERS, HIGHER REPRESENTATION OF I/I
GENOTYPE WAS FOUND ONLY IN PARTICIPANTS PLACED NO WORSE THAN
100TH. SIGNIFICANCE OF DIFFERENCES BETWEEN THE ATHLETES AND THE
CONTROL GROUP WAS NOT CONFIRMED.
ANGIOTENSIN-CONVERTING ENZYME
INSERTION/DELETION (ACE I/D)
• FURTHER RESEARCH HAS SUPPORTED SELINGEROVA ET AL, 2012, GAYAGAY ET
AL, 1989 DISCOVERED A SIGNIFICANT EXCESS OF THE I ALLELE AND THE II
GENOTYPE IN AUSTRALIAN NATIONAL ROWERS. CIESZCZYK ET AL, 2009
REPORTED THAT A SIGNIFICANTLY DIFFERENT I ALLELE FREQUENCY BETWEEN
ROWERS AND CONTROLS IN A POLISH POPULATION, THUS INDICATING A
POSITIVE ASSOCIATION WITH THE I ALLELE AND ENDURANCE.
• NEVERTHELESS, AS IN ALL RESEARCH SOME EXCEPTIONS DO EXIST, AMIR ET AL,
2007 REPORTED THAT THE FREQUENCY OF THE ACE D ALLELE AND THE ACE DD
GENOTYPE IN ISRAELI ELITE MARATHON RUNNERS SEEMS TO BE HIGHER THAN IN
SPRINTERS. THE POSSIBLE ANSWER TO THIS ANOMALY MAY BE DUE TO THE
MULTI ETHIC NATURE OF ISRAELI CAUCASIANS SUGGESTING THAT THE
ASSOCIATION BETWEEN THE D ALLELE AND POWER PERFORMANCE MAY BE
RESTRICTED TO ELITE CAUCASIANS.
NITRIC OXIDE SYNTHASE 3
• NITRIC OXIDE (NO) IS INVOLVED IN HUMAN SKELETAL MUSCLE UPTAKE DURING EXERCISE
(MCCONELL & KINGWELL, 2006) AND THE MODULATION OF OXYGEN CONSUMPTION IN SKELETAL
MUSCLES (WILKERSON ET AL, 2004).
• THEREFORE, ONE MIGHT ANTICIPATE THAT GENETIC VARIATION IN THE NOS3 GENE COULD BE
ASSOCIATED WITH POWER/SPRINT PERFORMANCE. INDEED, GÓMEZ-GALLEGO ET AL, 2009 FOUND
THAT THE FREQUENCY OF THE NOS3 T/C POLYMORPHISMS WAS SIGNIFICANTLY HIGHER IN 53
SPANISH ELITE POWER-ORIENTED ATHLETES (JUMPERS, THROWERS, SPRINTERS) COMPARED TO 100
NON-ATHLETIC CONTROLS (FREQUENCY OF THE T ALLELE: 71.0% VS. 56.0%; P = 0.015), WHILE
THE T ALLELE FREQUENCY WAS HIGHER IN ITALIAN POWER ATHLETES COMPARED WITH CONTROLS
(SESSA ET AL, 2011).
• THESE RESULTS WERE CONFIRMED IN A STUDY INVOLVING ITALIAN POWER-ORIENTED ATHLETES)
AND ALSO IN AN ANALYSIS OF 2010 ELITE UKRAINIAN ATHLETES (100 ENDURANCE-ORIENTATED
AND 110 POWER-ORIENTATED ATHLETES & 326 CONTROLS)
• GREATER AMOUNTS OF NO MAY INFLUENCE MUSCLE HYPERTROPHY (SMITH ET AL, 2005), WHICH
THEREFORE MAY BE THE CAUSAL LINK BETWEEN THESE NOS3 GENOTYPES AND POWER
PERFORMANCE.
POLYMORPHIC VARIANTS OF THE PPARA
GENE
• ONE OF THE GENES OF THE HEALTH-RELATED FITNESS PHENOTYPE IS THE PPARA
ENCODING PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR X (PPARX) THAT IS
RELATED TO METABOLISIM AND ENERGY HOMEOSTASIS, AND IS PRESENT AT
HIGH LEVELS IN TISSUES SUCH AS LIVER, SKELETAL MUSCLE AND MYOCARDIUM
WHERE CATABOLISM OF FATTY ACIDS OCCUR.
• AHMETOV ET AL, 2006 FOUND THAT THE GG HOMOZYGOTES WERE MORE
PREVALENT WITHIN A GROUP OF ENDURANCE-ORIENTATED ATHLETES, AND
FURTHER OBSERVED A GREATER FREQUENCY OF C ALLELE WITHIN THE GROUPS
CHARACTERIZED BY THE ANAEROBIC COMPONENT OF PHYSICAL PERFORMANCE.
• CIESZCZYK ET AL, 2011 DEMONSTRATED A SIGNIFICANTLY HIGHER FREQUENCY
OF THE GG GENOTYPE AND G ALLELE IN GROUPS OF ELITE POLISH ROWERS AND
COMBAT ATHLETES AS COMPARED WITH SEDENTARY CONTROLS.
POLYMORPHIC VARIANTS OF THE PPARA
GENE
THE INTIMATION OF THE RESULTS CAN BE PERTLY EXPLAINED BY THE ASSOCIATION
BETWEEN PPARA GENOTYPE AND MUSCLE FIBRE TYPE. POWER ORIENTATED
ATHLETES CHARACTERIZED BY A HIGH FREQUENCY OF THE C ALLELE ARE PRONE
TO SKELETAL MUSCLE HYPERTROPHY AND ENERGY SUBSTRATE SWITCH RESULTING
IN REDUCED FATTY ACID OXIDISATION (FAO) IN RESPONSE TO ANAEROBIC
EXERCISE. THE FREQUENCY OF GG GENOTYPES IN ENDURANCE ATHLETES MAY BE
CONNECTED WITH INCREASED FAO IN SKELETAL MUSCLE AND AN INCREASED
PROPORTION OF TYPE1 SLOW-TWITCH FIBRES IN GG INDIVIDUALS.
FACTOR HYPOXIA-INDUCIBLE FACTOR-1
(HIF-1)
 IN MAMMALIAN CELLS, OXYGEN HOMEOSTASIS IS REGULATED BY HIF-1.
 THE RESULTS REVEALED THAT THE FREQUENCY OF THE HIF1A PRO/SER
GENOTYPE (34.18% VS. 18.11%; P = 0.01) AND SER ALLELE (17.09% VS. 9.05%; P
= 0.01) WAS SIGNIFICANTLY HIGHER IN THE POWER-ORIENTATED ATHLETES
COMPARED TO SEDENTARY CONTROLS. THE RESULTS SUGGEST THAT THE HIF1A
GENE CAN BE TAKEN INTO CONSIDERATION AS A GENETIC MARKER IN POWER-
ORIENTATED ATHLETES
.
GENETIC VARIANTS FAVOURING SIGNIFICANTLY
ENDURANCE
• THE FOLLOWING ATHLETE MAY SHOW AN EXTRA POTENTIAL IN SPORTS REQUIRING
HIGH AEROBIC POWER;
Gene Genotype RS Number
ACE II N/A
ACE InDel
NOS 3 GG Rs 1799983
HIF-1 CC Rs 11549465
ACTN3 RR Rs 1815739
EXAMPLE OF THE GENETIC PROFILE OF AN INDIVIDUAL
FAVOURING SPEED AND STRENGTH PERFORMANCE
• ON THE OTHER HAND, IF AN INDIVIDUAL’S GENETIC PROFILE FAVOURS MUSCLE POWER AND
ANAEROBIC METABOLISM, THIS INDIVIDUAL WOULD EXHIBIT EXTRA ADVANTAGE IN SPORTS
REQUIRING INCREASED SPEED AND STRENGTH PERFORMANCE;
Gene Genotype Rs Number
HIF-1 T/T Rs 11549465
NOS3 GG Rs 1799983
ACE DD N/A
ACE InDel
ACTN3 RR Rs 1815739
DIO1 CT Rs 11206244
•
Gene Genotype Rs Number
HIF-1 T/C Rs 11549465
NOS3 GT Rs 1799983
ACE ID N/A
ACE InDel
ACTN3 RX Rs 1815739
DIO1 T/C Rs 11206244
MCT-1 AA Rs1049434
Example of the Genetic Profile of an Individual
Carrying Genetic Variants Favouring Both Aerobic
Performance and Muscle Strength
CURRENT AND FUTURE DEVELOPMENTS
• DNA PROFILING IS A NEW DYNAMIC ANALYTICAL TOOL. NEVERTHELESS SINCE ATHLETIC
PERFORMANCE IS AN EXTENSIVELY POLYGENIC TRAIT, FURTHER STUDIES ARE NEEDED FOR
IDENTIFICATION OF ADDITIONAL GENOMIC VARIANTS THAT MAY AFFECT THIS COMPLEX
PHENOTYPE. FUTURE RESEARCH SHOULD INVESTIGATE THE ASSOCIATION OF GENETIC
VARIANTS WITH OTHER SIGNIFICANT ASPECTS OF TRAINING, SUCH AS EXERCISE OVERLOAD
AND DETRAINING NEEDS THAT COULD BE FURTHER ADJUSTED TO THE SPECIFIC GENETIC
PROFILE OF AN INDIVIDUAL.
• OVERALL, DNA PROFILING FOR SPORT AND ATHLETIC PERFORMANCE IDENTIFIES GENETIC
ADVANTAGES TO BE EXPLOITED, GENETIC BARRIERS TO OVERCOME, OFFERS INSIGHTS INTO
SPORT AND ATHLETIC ACTIVITY SELECTION (ENDURANCE, STRENGTH, MIXED), DETERMINES
INCREASED RISK FOR SPORTS RELATED INJURIES AND UNCOVERS SPORTS PERFORMANCE
HINDRANCES (BODY MASS, PSYCHOLOGICAL ATTITUDE, SUBSTANCE ABUSE). KNOWLEDGE
AND UTILIZATION OF DNA PROFILING LEADS TO DEVISE AND IMPLEMENT PROTOCOLS
SUITED TO SPORT AND GENOTYPE VIA OPTIMIZED, PERSONALIZED AND INDIVIDUALIZED

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Talent Identification and Genetics

  • 1. TALENT IDENTIFICATION AND GENETICS THE FUTURE OF ATHLETIC PERFORMANCE
  • 2. AUTHOR • TONY O BRIEN • QUALIFIED WITH A BA (HONS) IN SPORTS MANAGEMENT AND GAINED AN MSC IN SPORT AND EXERCISE SCIENCE (LEEDS METROPOLITAN UNIVERSITY) AND A FURTHER MSC IN STRENGTH AND CONDITIONING FROM ST MARY’S UNIVERSITY COLLEGE. DURING HIS TIME AT ST MARY’S, TONY RESEARCHED EXTENSIVELY THE APPLICATION OF DIFFERING PERIODIZATION MODELS ON THE ACQUISITION OF STRENGTH, SPEED AND AGILITY IN FIELD BASED SPORTS. IN ADDITION HE QUALIFIED AS A TEACHER, GRADUATING WITH A CERT ED FROM MANCHESTER UNIVERSITY. • TONY HAS EXTENSIVE EXPERIENCE IN PROFESSIONAL RUGBY BOTH AS A SKILLS AND S & C COACH SINCE 1995 WORKING WITH SUPER LEAGUE TEAMS, SHEFFIELD EAGLES, WARRINGTON WOLVES, HULL KR AND CASTLEFORD TIGERS AS WELL AS CONNAUGHT IN THE RABO DIRECT.
  • 3. AIMS AND INTRODUCTION • THIS POD CAST PRESENTS THE MAJOR GENETIC VARIANTS –AS SELECTED BY THE AUTHORS- ASSOCIATED WITH SPECIFIC ASPECTS OF SPORTS PERFORMANCE, AND DETAILS HOW INFORMATION FROM DNA PROFILING CAN BE USED TO; • INDIVIDUALIZE AND PERSONALIZE TRAINING PROGRAMS, NUTRITION AND NUTRITIONAL SUPPLEMENTATION, TO ACHIEVE OPTIMAL ATHLETIC PERFORMANCE AND HEALTH OF AN ATHLETE.
  • 4. VARIATION • HUMAN VARIATION IS THE CENTRAL OBJECT OF INTEREST IN HUMAN GENETICS • VARIABILITY REPRESENTS THE SUBSTRATE OF HUMAN GENETICS, WHICH AIMS TO DEFINE RELATIONSHIPS WITH: • DNA SEQUENCE VARIATION • GENE INTERACTION AND COACTIONS • LIFESTYLE FACTORS • ENVIRONMENTAL VARIABLES
  • 5. TALENT SELECTION • TALENT SELECTION, THE IDENTIFICATION OF PROMISING ATHLETES AT A YOUNG AGE ALLOWS FOR AN EARLIER ADOPTION OF SPECIALIZED/DEDICATED TRAINING. HISTORICALLY, TALENT IDENTIFICATION HAS BEEN BASED ON PHYSICAL AND PSYCHOLOGICAL CHARACTERISTICS AND SPORT-SPECIFIC PERFORMANCE. GENETIC TESTING MAY PROVIDE AN ADDITIONAL WAY TO PREDICT ADULT PERFORMANCE TRAITS PRIOR TO THEIR FULL DEVELOPMENT IN UNTRAINED CHILDREN BY PROFILING COMBINATIONS OF GENE VARIANTS ASSOCIATED WITH A PARTICULAR TRAIT. AS DNA SEQUENCE IS CONSTANT THROUGHOUT LIFE, GENETIC TESTING CAN BE PERFORMED AS SOON AS A DNA SAMPLE IS AVAILABLE (IN INFANCY OR EVEN PRIOR TO BIRTH
  • 6. TALENT VS GENETIC MAKE UP • GENOMIC DNA PROFILING FOR ATHLETIC PERFORMANCE REVEALS GENETIC VARIATIONS THAT MAY BE ASSOCIATED WITH BETTER SUITABILITY FOR ENDURANCE, STRENGTH AND SPEED SPORTS, VULNERABILITY TO SPORTS-RELATED INJURIES AND INDIVIDUALIZED NUTRITIONAL REQUIREMENTS. • KNOWLEDGE OF GENETIC ‘SUITABILITY’ IN RESPECT TO ENDURANCE CAPACITY OR STRENGTH AND SPEED WOULD LEAD TO APPROPRIATE SPORT AND ATHLETIC ACTIVITY SELECTION. • KNOWLEDGE OF GENETIC ADVANTAGES AND BARRIERS WOULD ‘DIRECT’ AN INDIVIDUALIZED TRAINING PROGRAM, NUTRITIONAL PLAN AND NUTRITIONAL SUPPLEMENTATION TO ACHIEVING OPTIMAL PERFORMANCE, OVERCOMING ‘BARRIERS’ THAT RESULTS FROM INTENSE EXERCISE AND PRESSURE UNDER COMPETITION WITH MINIMUM WASTE OF TIME AND ENERGY AND AVOIDANCE OF HEALTH RISKS OR INJURY RELATED TO EXERCISE, TRAINING AND COMPETITION.
  • 7. ENDURANCE ABILITY • PERFORMANCE OF INDIVIDUALS IN ENDURANCE AND MIXED AEROBIC-ANAEROBIC SPORTS DEPENDS ON AEROBIC POWER. • AEROBIC POWER IS DEFINED AS THE MAXIMUM AMOUNT OF OXYGEN WHICH THE BODY CAN UTILIZE USUALLY DURING INTENSE EXERCISE. • AEROBIC POWER HAS A STRONG GENETIC BASIS, AND CONTRIBUTES SIGNIFICANTLY TO THE PERFORMANCE OF AN INDIVIDUAL IN ENDURANCE SPORTS. • ELITE ENDURANCE ATHLETES OFTEN SHARE GENOMIC VARIANTS THAT AFFECT MAXIMAL OXYGEN CONSUMPTION AND ENERGY SUPPLY OF AEROBIC METABOLISM. • CERTAIN VARIANTS IN GENES SUCH AS ACE, NOS3, HIF1 ENHANCE OXYGEN SUPPLIES TO MUSCLE TISSUES, AND FAVOUR INCREASED ENDURANCE.
  • 8. MUSCLE PERFORMANCE • MUSCLE STRENGTH AND GENERAL MUSCLE PERFORMANCE ARE MAJOR FACTORS FOR ATHLETES INVOLVED IN POWER, SPRINT AND MIXED AEROBIC- ANAEROBIC SPORTS. • VARIANTS IN GENES AFFECTING OXYGEN SUPPLY TO MUSCLES AND ENERGY CONSUMPTION AFFECT MUSCLE STRENGTH PHENOTYPES, AS WELL AS ENDURANCE CAPACITY, EITHER WITH SIMILAR GENOTYPE EFFECTS (NOS3 AND HIF-1, ENHANCING OXYGEN TRANSFER TO MUSCLES) OR DIFFERENT GENOTYPE (ACE, ACTN3) EFFECTS. • A MAJOR FACTOR FOR MUSCLE FATIGUE AFTER INTENSE POWER EXERCISE IS THE RATES OF LACTIC ACID REMOVAL. A VARIANT IN THE MCT-1 GENE AFFECTS LACTATE TRANSPORT CAPABILITY, AND THUS INTENSITY OF PERFORMANCE (CUPEIRO R, 2010)
  • 9. SPORTS DNA PROFILING IN PRACTICE • DNA PROFILING CANNOT DETECT OR DETERMINE SUPERIOR ATHLETES • CAN PREDICT ABILITIES AND WEAKNESSES ASSOCIATED WITH SPORTS PERFORMANCE. • THE CONTINUING RESEARCH WITHIN THE FIELD OF GENETICS WILL HOWEVER IN FUTURE WILL BE ABLE TO DETECT THE GENETIC EXPLOSIONS WHICH IS A TERM USED BY DAVID EPSTEIN IN THE “SPORTS GENE” • THE COMBINATION OF A SUITABLE DNA PROFILE WITHIN A SUPERIOR PERFORMANCE STRUCTURE CAN AND WILL PRODUCE ELITE AND WORLD CLASS ATHLETES • HERITABILITY OF ATHLETIC STATUS HAS BEEN ESTIMATED AT APPROXIMATELY 66% (DE MOOR, ET AL, 2007) • RESEARCHERS NOW FOCUSED TOWARDS GENETIC PROFILES WHICH WILL CONTRIBUTE TO SPORT PERFORMANCE AND IDENTIFYING THE UNDERLYING MECHANISMS THAT WILL ALSO IDENTIFY ELITE PERFORMERS ACROSS ALL SPORTS
  • 10. ACTN3 POWER AND SPRINT PERFORMANCE • THE RATE OF FORCE DEVELOPMENT (RFD) IS A CRUCIAL CONSIDERATION FOR SUCCESS IN POWER AND SPRINT PERFORMANCE. THIS THEREFORE REQUIRES HIGH SPEED AND FORCEFUL MUSCLE CONTRACTIONS WHICH IS DEPENDENT ON THE ANAEROBIC PATHWAYS AND THE UTILIZATION OF INTRAMUSCULAR STORES OF CP, ATP AND GLUCOSE (MOLE ET AL, 1971) • ALTERNATIVELY ELITE ENDURANCE ATHLETES REQUIRE SUSTAINED MUSCULAR CONTRACTION OVER A LONG PERIOD OF TIME. IN ORDER TO ACHIEVE THIS, ATHLETES MUST HAVE A HIGH VO2MAX LACTATE THRESHOLD ALONGSIDE A HOST OF TRADITIONAL ENDURANCE PHENOTYPES WHICH FACILITATE INCREASES IN SEVERAL COMPONENTS OF THE MITOCHONDRIAL CHAIN (MOLE ET AL, 1971)
  • 11. ACTN3 POWER AND SPRINT PERFORMANCE • IN 2003 YANG ET AL, DEMONSTRATED A SIGNIFICANT ASSOCIATION BETWEEN ACTN3 GENOTYPE AND ATHLETIC PERFORMANCE. THEY FOUND THAT BOTH MALE AND FEMALE ELITE SPRINT ATHLETES HAVE SIGNIFICANTLY HIGHER FREQUENCIES OF THE 577R ALLELE COMPARE TO CONTROLS. • THE ACTN3 GENOTYPE IS ALSO ASSOCIATED WITH THE LEVEL OF ATHLETIC COMPETITION ACHIEVED. AMONG OLYMPIC SPRINT ATHLETES, THERE WERE NO CASES OF ACTN3 577XX GENOTYPE IN BOTH AUSTRALIAN AND ISRAELI ATHLETES (YANG ET AL 2003, EYNON ET AL , 2009) • TAIWANESE ELITE SWIMMERS (SHORT-DISTANCE) HAD SIGNIFICANTLY LOWER ACTN3 577XX GENOTYPE FREQUENCY COMPARED WITH THEIR NON-ELITE COUNTERPARTS (CHIU ET AL, 2011)
  • 12.
  • 13. ACTN3 AND ENDURANCE PERFORMANCE • AS THE ACTN3 R ALLELE IS SUGGESTED TO BE ASSOCIATED WITH POWER PERFORMANCE, ACTN3XX DOES APPEAR TO BE ASSOCIATED WITH ENDURANCE (YANG ET AL 2007, MIN ET AT, 2009)
  • 14.
  • 15. ANGIOTENSIN-CONVERTING ENZYME INSERTION/DELETION (ACE I/D) • THE ACE INSERTION /DELETION (ACE I/D) HAS BEEN RELATED WITH IMPROVEMENTS IN PERFORMANCE AND EXERCISE DURATION IN A VARIETY OF POPULATIONS, THE I ALLELE IS ASSOCIATED WITH ENDURANCE PHENOTYPES AND THE D ALLELE WITH SPRINT AND POWER PHENOTYPES. • RESEARCH BY SELINGEROVA ET AL, 2012 WAS FOCUSED ON DETERMINATION OF GENETIC PREDISPOSITIONS FOR SPEED AND ENDURANCE. THE FIRST GROUP WAS FORMED BY PUPILS OF ICE-HOCKEY CLASSES IN BRATISLAVA. THE AVERAGE AGE OF 162 MEMBERS OF THIS GROUP WAS 13.0 YEARS. THE SECOND AND THIRD GROUP INCLUDED ADULT ATHLETES (MARATHON RUNNERS N = 215 AND HALF- MARATHON RUNNERS N = 222) AGED 18 TO 77 YEARS.
  • 16. ANGIOTENSIN-CONVERTING ENZYME INSERTION/DELETION (ACE I/D) IN THE ICE HOCKEY PLAYERS IN COMPARISON TO THE CONTROL GROUP, SIGNIFICANTLY HIGHER REPRESENTATION OF THE D/D GENOTYPE (35.5%) WAS FOUND IN THE FASTER PLAYERS. IN CONTRAST THE PERCENTAGE OF THE D/D GENOTYPE WAS LOWER (10%) IN THE BOYS WITH BELOW-AVERAGE RUNNING SPEED. THE DIFFERENCE BETWEEN THE D AND I ALLELE IN THE FAST GROUP (IHI) WAS INSIGNIFICANT; NEVERTHELESS THE WAS A SIGNIFICANT HIGH OCCURRENCE OF THE I ALLELE IN THE SLOW GROUP (IH2)
  • 17. ANGIOTENSIN-CONVERTING ENZYME INSERTION/DELETION (ACE I/D) • IN THE MARATHON RUNNERS SIGNIFICANT DIFFERENCES IN FREQUENCY OF THE INDIVIDUAL ACE GENOTYPES WAS ALSO DISCOVERED ACCORDING TO THEIR RACE PERFORMANCE (FIG 2, TABLE 2) • IN TOP-PERFORMANCE MARATHON RUNNERS (PLACED NO WORSE THAN 50TH, GROUP A) AND AVERAGE-PERFORMANCE MARATHON RUNNERS (PLACED 51ST TO 200TH, GROUPS M2-M4), DIFFERENCES BETWEEN INDIVIDUAL GENOTYPES WERE FOUND ON THE LEVEL OF 5 % SIGNIFICANCE . IMPORTANT IS THAT D/D GENOTYPE WAS NOT FOUND IN THE GROUP OF TOP MARATHON RUNNERS (GROUP M1). THE LOWER THE PERFORMANCE, THE HIGHER WAS THE FREQUENCY OF D/D GENOTYPE. THE HETEROZYGOUS FORM OF I/D GENOTYPE WAS HIGH IN RUNNERS PLACED NO WORSE THAN 100TH (GROUPS M1 AND M2). STATISTICALLY SIGNIFICANT DIFFERENCES (P ≤ 0.05) AGAINST THE CONTROL GROUP WERE FOUND ONLY IN THE GROUPS OF THE FIRST THREE PERFORMANCE CATEGORIES (PLACED NO WORSE THAN 150TH).
  • 18. ANGIOTENSIN-CONVERTING ENZYME INSERTION/DELETION (ACE I/D) • IN THE GROUP OF HALF-MARATHON RUNNERS, HIGHER REPRESENTATION OF I/I GENOTYPE WAS FOUND ONLY IN PARTICIPANTS PLACED NO WORSE THAN 100TH. SIGNIFICANCE OF DIFFERENCES BETWEEN THE ATHLETES AND THE CONTROL GROUP WAS NOT CONFIRMED.
  • 19.
  • 20. ANGIOTENSIN-CONVERTING ENZYME INSERTION/DELETION (ACE I/D) • FURTHER RESEARCH HAS SUPPORTED SELINGEROVA ET AL, 2012, GAYAGAY ET AL, 1989 DISCOVERED A SIGNIFICANT EXCESS OF THE I ALLELE AND THE II GENOTYPE IN AUSTRALIAN NATIONAL ROWERS. CIESZCZYK ET AL, 2009 REPORTED THAT A SIGNIFICANTLY DIFFERENT I ALLELE FREQUENCY BETWEEN ROWERS AND CONTROLS IN A POLISH POPULATION, THUS INDICATING A POSITIVE ASSOCIATION WITH THE I ALLELE AND ENDURANCE. • NEVERTHELESS, AS IN ALL RESEARCH SOME EXCEPTIONS DO EXIST, AMIR ET AL, 2007 REPORTED THAT THE FREQUENCY OF THE ACE D ALLELE AND THE ACE DD GENOTYPE IN ISRAELI ELITE MARATHON RUNNERS SEEMS TO BE HIGHER THAN IN SPRINTERS. THE POSSIBLE ANSWER TO THIS ANOMALY MAY BE DUE TO THE MULTI ETHIC NATURE OF ISRAELI CAUCASIANS SUGGESTING THAT THE ASSOCIATION BETWEEN THE D ALLELE AND POWER PERFORMANCE MAY BE RESTRICTED TO ELITE CAUCASIANS.
  • 21. NITRIC OXIDE SYNTHASE 3 • NITRIC OXIDE (NO) IS INVOLVED IN HUMAN SKELETAL MUSCLE UPTAKE DURING EXERCISE (MCCONELL & KINGWELL, 2006) AND THE MODULATION OF OXYGEN CONSUMPTION IN SKELETAL MUSCLES (WILKERSON ET AL, 2004). • THEREFORE, ONE MIGHT ANTICIPATE THAT GENETIC VARIATION IN THE NOS3 GENE COULD BE ASSOCIATED WITH POWER/SPRINT PERFORMANCE. INDEED, GÓMEZ-GALLEGO ET AL, 2009 FOUND THAT THE FREQUENCY OF THE NOS3 T/C POLYMORPHISMS WAS SIGNIFICANTLY HIGHER IN 53 SPANISH ELITE POWER-ORIENTED ATHLETES (JUMPERS, THROWERS, SPRINTERS) COMPARED TO 100 NON-ATHLETIC CONTROLS (FREQUENCY OF THE T ALLELE: 71.0% VS. 56.0%; P = 0.015), WHILE THE T ALLELE FREQUENCY WAS HIGHER IN ITALIAN POWER ATHLETES COMPARED WITH CONTROLS (SESSA ET AL, 2011). • THESE RESULTS WERE CONFIRMED IN A STUDY INVOLVING ITALIAN POWER-ORIENTED ATHLETES) AND ALSO IN AN ANALYSIS OF 2010 ELITE UKRAINIAN ATHLETES (100 ENDURANCE-ORIENTATED AND 110 POWER-ORIENTATED ATHLETES & 326 CONTROLS) • GREATER AMOUNTS OF NO MAY INFLUENCE MUSCLE HYPERTROPHY (SMITH ET AL, 2005), WHICH THEREFORE MAY BE THE CAUSAL LINK BETWEEN THESE NOS3 GENOTYPES AND POWER PERFORMANCE.
  • 22.
  • 23. POLYMORPHIC VARIANTS OF THE PPARA GENE • ONE OF THE GENES OF THE HEALTH-RELATED FITNESS PHENOTYPE IS THE PPARA ENCODING PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR X (PPARX) THAT IS RELATED TO METABOLISIM AND ENERGY HOMEOSTASIS, AND IS PRESENT AT HIGH LEVELS IN TISSUES SUCH AS LIVER, SKELETAL MUSCLE AND MYOCARDIUM WHERE CATABOLISM OF FATTY ACIDS OCCUR. • AHMETOV ET AL, 2006 FOUND THAT THE GG HOMOZYGOTES WERE MORE PREVALENT WITHIN A GROUP OF ENDURANCE-ORIENTATED ATHLETES, AND FURTHER OBSERVED A GREATER FREQUENCY OF C ALLELE WITHIN THE GROUPS CHARACTERIZED BY THE ANAEROBIC COMPONENT OF PHYSICAL PERFORMANCE. • CIESZCZYK ET AL, 2011 DEMONSTRATED A SIGNIFICANTLY HIGHER FREQUENCY OF THE GG GENOTYPE AND G ALLELE IN GROUPS OF ELITE POLISH ROWERS AND COMBAT ATHLETES AS COMPARED WITH SEDENTARY CONTROLS.
  • 24. POLYMORPHIC VARIANTS OF THE PPARA GENE THE INTIMATION OF THE RESULTS CAN BE PERTLY EXPLAINED BY THE ASSOCIATION BETWEEN PPARA GENOTYPE AND MUSCLE FIBRE TYPE. POWER ORIENTATED ATHLETES CHARACTERIZED BY A HIGH FREQUENCY OF THE C ALLELE ARE PRONE TO SKELETAL MUSCLE HYPERTROPHY AND ENERGY SUBSTRATE SWITCH RESULTING IN REDUCED FATTY ACID OXIDISATION (FAO) IN RESPONSE TO ANAEROBIC EXERCISE. THE FREQUENCY OF GG GENOTYPES IN ENDURANCE ATHLETES MAY BE CONNECTED WITH INCREASED FAO IN SKELETAL MUSCLE AND AN INCREASED PROPORTION OF TYPE1 SLOW-TWITCH FIBRES IN GG INDIVIDUALS.
  • 25. FACTOR HYPOXIA-INDUCIBLE FACTOR-1 (HIF-1)  IN MAMMALIAN CELLS, OXYGEN HOMEOSTASIS IS REGULATED BY HIF-1.  THE RESULTS REVEALED THAT THE FREQUENCY OF THE HIF1A PRO/SER GENOTYPE (34.18% VS. 18.11%; P = 0.01) AND SER ALLELE (17.09% VS. 9.05%; P = 0.01) WAS SIGNIFICANTLY HIGHER IN THE POWER-ORIENTATED ATHLETES COMPARED TO SEDENTARY CONTROLS. THE RESULTS SUGGEST THAT THE HIF1A GENE CAN BE TAKEN INTO CONSIDERATION AS A GENETIC MARKER IN POWER- ORIENTATED ATHLETES .
  • 26.
  • 27. GENETIC VARIANTS FAVOURING SIGNIFICANTLY ENDURANCE • THE FOLLOWING ATHLETE MAY SHOW AN EXTRA POTENTIAL IN SPORTS REQUIRING HIGH AEROBIC POWER; Gene Genotype RS Number ACE II N/A ACE InDel NOS 3 GG Rs 1799983 HIF-1 CC Rs 11549465 ACTN3 RR Rs 1815739
  • 28. EXAMPLE OF THE GENETIC PROFILE OF AN INDIVIDUAL FAVOURING SPEED AND STRENGTH PERFORMANCE • ON THE OTHER HAND, IF AN INDIVIDUAL’S GENETIC PROFILE FAVOURS MUSCLE POWER AND ANAEROBIC METABOLISM, THIS INDIVIDUAL WOULD EXHIBIT EXTRA ADVANTAGE IN SPORTS REQUIRING INCREASED SPEED AND STRENGTH PERFORMANCE; Gene Genotype Rs Number HIF-1 T/T Rs 11549465 NOS3 GG Rs 1799983 ACE DD N/A ACE InDel ACTN3 RR Rs 1815739 DIO1 CT Rs 11206244
  • 29. • Gene Genotype Rs Number HIF-1 T/C Rs 11549465 NOS3 GT Rs 1799983 ACE ID N/A ACE InDel ACTN3 RX Rs 1815739 DIO1 T/C Rs 11206244 MCT-1 AA Rs1049434 Example of the Genetic Profile of an Individual Carrying Genetic Variants Favouring Both Aerobic Performance and Muscle Strength
  • 30. CURRENT AND FUTURE DEVELOPMENTS • DNA PROFILING IS A NEW DYNAMIC ANALYTICAL TOOL. NEVERTHELESS SINCE ATHLETIC PERFORMANCE IS AN EXTENSIVELY POLYGENIC TRAIT, FURTHER STUDIES ARE NEEDED FOR IDENTIFICATION OF ADDITIONAL GENOMIC VARIANTS THAT MAY AFFECT THIS COMPLEX PHENOTYPE. FUTURE RESEARCH SHOULD INVESTIGATE THE ASSOCIATION OF GENETIC VARIANTS WITH OTHER SIGNIFICANT ASPECTS OF TRAINING, SUCH AS EXERCISE OVERLOAD AND DETRAINING NEEDS THAT COULD BE FURTHER ADJUSTED TO THE SPECIFIC GENETIC PROFILE OF AN INDIVIDUAL. • OVERALL, DNA PROFILING FOR SPORT AND ATHLETIC PERFORMANCE IDENTIFIES GENETIC ADVANTAGES TO BE EXPLOITED, GENETIC BARRIERS TO OVERCOME, OFFERS INSIGHTS INTO SPORT AND ATHLETIC ACTIVITY SELECTION (ENDURANCE, STRENGTH, MIXED), DETERMINES INCREASED RISK FOR SPORTS RELATED INJURIES AND UNCOVERS SPORTS PERFORMANCE HINDRANCES (BODY MASS, PSYCHOLOGICAL ATTITUDE, SUBSTANCE ABUSE). KNOWLEDGE AND UTILIZATION OF DNA PROFILING LEADS TO DEVISE AND IMPLEMENT PROTOCOLS SUITED TO SPORT AND GENOTYPE VIA OPTIMIZED, PERSONALIZED AND INDIVIDUALIZED

Notas del editor

  1. Here, we demonstrate highly significant associations between ACTN3 genotype and athletic performance. Both male and female elite sprint athletes have significantly higher frequencies of the 577R allele than do controls. This suggests that the presence of a-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, and provides an evolutionary advantage because of increased sprint performance. There is also a genotype effect in femalesprintandenduranceathletes,withhigherthanexpectednumbersof577RXheterozygotes among sprint athletes and lower than expected numbers among endurance athletes. The lack of a similar effect in males suggests that the ACTN3 genotype affects athletic performance differently in males and females