Talent Identification and Genetics

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)

• ON THE OTHER HAND, A GENE VARIANT IN DIO1 AFFECTS POSITIVELY

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.


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)


• 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).


• 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.


• 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 PPARAGENE

• 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 PPARAGENE

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/SERGENOTYPE (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/AACE InDel

NOS 3 GG Rs 1799983

HIF-1 CC Rs 11549465

ACTN3 RR Rs 1815739

EXAMPLE OF THE GENETIC PROFILE OF AN INDIVIDUALFAVOURING 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/AACE 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/AACE InDel

ACTN3 RX Rs 1815739

DIO1 T/C Rs 11206244

MCT-1 AA Rs1049434

Example of the Genetic Profile of an IndividualCarrying 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

TRAINING AND NUTRITIONAL PROGRAMS FOR MAXIMUM PERFORMANCE AND OPTIMAL

Talent Identification and Genetics

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