Genetic Variants within NOGGIN, COL1A1, COL5A1, and IGF2 are Associated with Musculoskeletal Injuries in Elite Male Australian Football League Players: A Preliminary Study.

INTRODUCTION: Australian Football is a dynamic team sport that requires many athletic traits to succeed. Due to this combination of traits, as well as technical skill and physicality, there are many types of injuries that could occur. Injuries are not only a hindrance to the individual player, but to the team as a whole. Many strength and conditioning personnel strive to minimise injuries to players to accomplish team success. PURPOSE: To investigate whether selected polymorphisms have an association with injury occurrence in elite male Australian Football players. METHODS: Using DNA obtained from 46 elite male players, we investigated the associations of injury-related polymorphisms across multiple genes (ACTN3, CCL2, COL1A1, COL5A1, COL12A1, EMILIN1, IGF2, NOGGIN, SMAD6) with injury incidence, severity, type (contact and non-contact), and tissue (muscle, bone, tendon, ligament) over 7 years in one Australian Football League team. RESULTS: A significant association was observed between the rs1372857 variant in NOGGIN (p = 0.023) and the number of total muscle injuries, with carriers of the GG genotype having a higher estimated number of injuries, and moderate, or combined moderate and high severity rated total muscle injuries. The COL5A1 rs12722TT genotype also had a significant association (p = 0.028) with the number of total muscle injuries. The COL5A1 variant also had a significant association with contact bone injuries (p = 0.030), with a significant association being found with moderate rated injuries. The IGF2 rs3213221-CC variant was significantly associated with a higher estimated number of contact tendon injuries per game (p = 0.028), while a higher estimated number of total ligament (p = 0.019) and non-contact ligament (p = 0.002) injuries per game were significantly associated with carriage of the COL1A1 rs1800012-TT genotype. CONCLUSIONS: Our preliminary study is the first to examine associations between genetic variants and injury in Australian Football. NOGGIN rs1372857-GG, COL5A1 rs12722-TT, IGF2 rs3213221-CC, and COL1A1 rs1800012-TT genotypes held various associations with muscle-, bone-, tendon- and ligament-related injuries of differing severities. To further increase our understanding of these, and other, genetic variant associations with injury, competition-wide AFL studies that use more players and a larger array of gene candidates is essential.

ACTN3 (R577X) Genotype Is Associated With Australian Football League Players.

ABSTRACT: Jacob, Y, Hart, NH, Cochrane, JL, Spiteri, T, Laws, SM, Jones, A, Rogalski, B, Kenna, J, and Anderton, RS. ACTN3 (R577X) genotype is associated with Australian Football League players. J Strength Cond Res 36(2): 573-576, 2022-Genetic variants in the angiotensin-converting enzyme (ACE) and alpha actinin-3 (ACTN3) genes have been associated with elite sport athletic performance. This study aimed to investigate the frequency of each polymorphism in a cohort of elite Australian football (AF) players. To achieve this, 47 players from an Australian Football League (AFL) club and 59 healthy age matched controls with no history of elite sporting competition were recruited for this study. Each subject provided saliva samples through buccal swab for DNA extraction and genotyping, with group comparisons made using χ2 and odds ratio analysis. There was no significant difference in ACE I/D genotype between healthy control and elite AF players. The ACTN3 XX genotype was significantly underrepresented in AFL players (4.3%) compared with healthy controls (28.8%, p = 0.003). In addition, there was a greater representation of the R allele in elite AF players (70.2%) when compared with healthy controls (50%; χ2 = 8.834, p = 0.002). This is the first study to investigate genetic variants in elite AF players, with results suggesting that the ACTN3 gene may play a significant role explaining aspects of athletic performance in AF.

Association of Genetic Variances in ADRB1 and PPARGC1a with Two-Kilometre Running Time-Trial Performance in Australian Football League Players: A Preliminary Study.

Genetic variants in the angiotensin-converting enzyme (ACE) (rs4343), alpha-actinin-3 (ACTN3) (rs1815739), adrenoceptor-beta-1 (ADRB1) (rs1801253), and peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PPARGC1A) (rs8192678) genes have previously been associated with elite athletic performance. This study assessed the influence of polymorphisms in these candidate genes towards endurance test performance in 46 players from a single Australian Football League (AFL) team. Each player provided saliva buccal swab samples for DNA analysis and genotyping and were required to perform two independent two-kilometre running time-trials, six weeks apart. Linear mixed models were created to account for repeated measures over time and to determine whether player genotypes are associated with overall performance in the two-kilometre time-trial. The results showed that the ADRB1 Arg389Gly CC (p = 0.034) and PPARGC1A Gly482Ser GG (p = 0.031) genotypes were significantly associated with a faster two-kilometre time-trial. This is the first study to link genetic polymorphism to an assessment of endurance performance in Australian Football and provides justification for further exploratory or confirmatory studies.

Genetic predictors of match performance in sub-elite Australian football players: A pilot study.

The current study aimed to determine whether previously identified candidate polymorphisms were associated with match performance in sub-elite Australian Rules Football (ARF) players. The genotypes of thirty players were analysed along with 3x1-kilometre time trial results, ARF-specific skill assessments (handball and kicking), and match performance (direct game involvements) per minute (DGIs/min) to investigate if there was a relationship between any of the variables. Results support previous findings that aerobic time trials are a significant predictor of DGIs/min in sub-elite ARF players. Significant associations were found for genotypes ADRB2 CC (p = .001), PPARGC1A AA (p = .001), PPARGC1A AG (p < .001), ACE ID (p < .001), COMT AA (p = .003), BDNF AG (p = .008), ADRB1 CC (p = .018) and ADRB3 CC (p = .010) and the 3x1-kilometre time trials (p < .001). In the current study, a variant in the DRD2 gene was a strong predictor of handball possessions during a match. Significance was seen for variants in the BDNF and COMT genes when the kicking and handball skill test results were combined and used in a linear mixed model to predict DGIs/min, suggesting a potential relationship with motor learning. The confirmation of genetic predictors of player performance in a team sport, such as ARF, suggests a portion of the physiological mechanisms of skill and ARF-specific talent may be explained by the expression of a specific number of genes.

The Potential Role of Genetic Markers in Talent Identification and Athlete Assessment in Elite Sport.

In elite sporting codes, the identification and promotion of future athletes into specialised talent pathways is heavily reliant upon objective physical, technical, and tactical characteristics, in addition to subjective coach assessments. Despite the availability of a plethora of assessments, the dependence on subjective forms of identification remain commonplace in most sporting codes. More recently, genetic markers, including several single nucleotide polymorphisms (SNPs), have been correlated with enhanced aerobic capacity, strength, and an overall increase in athletic ability. In this review, we discuss the effects of a number of candidate genes on athletic performance, across single-skilled and multifaceted sporting codes, and propose additional markers for the identification of motor skill acquisition and learning. While displaying some inconsistencies, both the ACE and ACTN3 polymorphisms appear to be more prevalent in strength and endurance sporting teams, and have been found to correlate to physical assessments. More recently, a number of polymorphisms reportedly correlating to athlete performance have gained attention, however inconsistent research design and varying sports make it difficult to ascertain the relevance to the wider sporting population. In elucidating the role of genetic markers in athleticism, existing talent identification protocols may significantly improve-and ultimately enable-targeted resourcing in junior talent pathways.

Identification of genetic markers for skill and athleticism in sub-elite Australian football players: a pilot study.

BACKGROUND: Natural genetic variation contributes towards athletic performance in various strength/power and endurance based sports. To date, no studies have explored the genetic predisposition towards skill and athletic performance in Australian Football (AF) players. METHODS: The present pilot study recruited 30 sub-elite AF players who completed tests of endurance, power and technical skill. Specific polymorphisms in nine genes were screened, and assessed for a possible association with athletic and skill traits. RESULTS: Statistical analysis using generalized linear models identified a number of polymorphisms predictive of endurance and technical skill. The angiotensin-converting enzyme (ACE), normally responsible for regulation of body fluid volume, was a significant factor in predicting 'all round' athletic performance and skill. Specifically, the deletion allele (DD) of ACE was identified as a predictor for AF power (P≤0.008), endurance (P=0.001) and skill assessments (P≤0.003). In addition, polymorphisms in the brain-derived neurotrophic factor, D2 dopamine receptor, and catechol-O-methyltransferase genes were also shown to contribute to kicking skill outcomes (P≤0.044). CONCLUSIONS: This is the first study to implicate the ACE deletion allele for a multidimensional sport in such a way. Further, the results from this study have identified several new candidate genes in predicting athletic and technical skill outcomes.