Shane M Heffernan

Swansea University | SWAN · Research Centre in Applied Sports, Technology, Exercise and Medicine "A-STEM"

Background FTO gene variants have been associated with obesity phenotypes in sedentary and obese populations, but rarely with skeletal muscle and elite athlete phenotypes. Methods In 1089 participants, comprising 530 elite rugby athletes and 559 non-athletes, DNA was collected and genotyped for the FTO rs9939609 variant using real-time PCR. In a s...

We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league), compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forward...

Objectives The titin gene (TTN) encodes the largest described protein to date and, due to its size, provides a molecular blueprint for the organisation and assembly of the muscle sarcomere. Differences in sarcomere length, due to the expression of different titin isoforms, have been observed previously and may influence muscle fascicle length, whic...

Objectives A common nonsense polymorphism (R577X) in the ACTN3 (α-actinin-3 protein) has been associated with elite athlete status previously. Specifically, the X allele has been positively associated with elite endurance status, however, this remains inconclusive due to contradictory reports within the literature. Thus, the current study aimed to...

This article introduces some aspects of sports genomics in a rugby union context, considers the rugby-specific genetic data in the published literature and outlines the next research steps required if the potential applications of genetic technology in rugby union, also identified here, are to become possible. A substantial proportion of the inter-...

Skeletal muscle echo intensity (EI) is affected by ageing and physical activity; however, the effects of nutrition are less understood. The aim of this study was to explore whether habitual nutrient intake may be associated with ultrasound-derived EI. Partial least squares regression (PLSR) models were trained on an initial sample (n = 100, M = 45;...

Purpose Post-exercise passive heating has been reported to augment adaptations associated with endurance training. The current study evaluated the effect of a 4-week remotely administered, post-exercise passive leg heating protocol, using an electrically heated layering ensemble, on determinants of endurance performance. Methods Thirty recreationa...

Genetic variation has been proposed as a factor in human athletic performance. The angiotensin converting enzyme (ACE) gene has been studied extensively albeit with heterogeneous results. The insertion (I) and deletion (D) alleles have been associated with altered serum and tissue ACE, as well as endurance- and power-based performance respectively....

Purpose To determine the effect of taurine supplementation on sweating and core temperature responses, including the transition from compensable to uncompensable heat stress, during prolonged low-intensity exercise of a fixed-heat production (~ 200W/m²) in hot conditions (37.5 °C), at both fixed and incremental vapour-pressure. Methods Fifteen fem...

Purpose Caffeine is a commonly used ergogenic aid for endurance events; however, its efficacy and safety have been questioned in hot environmental conditions. The aim of this study was to investigate the effects of acute caffeine supplementation on cycling time to exhaustion and thermoregulation in the heat. Methods In a double-blind, randomised,...

The International Olympic Committee (IOC) recently published a framework on fairness, inclusion, and nondiscrimination on the basis of gender identity and sex variations. Although we appreciate the IOC's recognition of the role of sports science and medicine in policy development, we disagree with the assertion that the IOC framework is consistent...

Fucoidan has attracted considerable attention from scientists and pharmaceutical companies due to its antioxidant, anticoagulant, anti-inflammatory, anti-tumor, and health-enhancing properties. However, the extraction of fucoidan from seaweeds often involves the use of harsh chemicals, which necessitates the search for alternative solvents. Additio...

Background Professional rugby union is a high-intensity contact sport with position-specific high training and match volumes across a season that may lead to periods of fatigue if above a typically experienced threshold. This study assesses the influence of match play and/or training on fatigue levels in rugby union players. Objective We aimed to...

We determined the effects of topically applied i) isolated menthol cream, ii) menthol and capsaicin co-application or iii) placebo cream on exercise tolerance, thermal perception, pain, attentional focus and thermoregulation during exercise in the heat. Ten participants cycled at 70% maximal power output until exhaustion in 35°C and 20% relative hu...

Success in long-distance running relies on multiple factors including oxygen utilisation and lactate metabolism, and genetic associations with athlete status suggest elite competitors are heritably predisposed to superior performance. The Gly allele of the PPARGC1A Gly482Ser rs8192678 polymorphism has been associated with endurance athlete status a...

The factors explaining variance in thermoneutral maximal oxygen uptake (V˙O2max) adaptation to heat acclimation (HA) were evaluated, with consideration of HA programme parameters, biophysical variables and thermo-physiological responses. Seventy-one participants consented to perform iso-intensity training (range: 45%-55% V˙O2max) in the heat (range...

Part 1 of this genetic association series highlighted several genetic variants independently associated with elite status in rugby. However, it is highly likely that the genetic influence on elite status is polygenic due to the interaction of multiple genes. Therefore, the aim of the present study was to investigate whether polygenic profiles of el...

Objective Inter-day reliability of sweat measurements, including the absorbent patch and modified iodine-paper techniques, at rest and exercise were evaluated. We further evaluated the effect of iodine paper size and the method of establishing sweat gland activation (sweat gland counting or surface area covered) on reliability. Furthermore, the rel...

Grainger, A, Heffernan, S, Waldrom, M, and Sawczuk, T. Autonomic nervous system indices of player readiness during elite-level rugby union game-week microcycles. J Strength Cond Res XX(X): 000-000, 2022-Elite-level rugby union (RU) is a high-intensity contact sport that involves large training and match volumes across a season, which can lead to po...

Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sustaining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite...

There is growing evidence of genetic contributions to tendon and ligament pathologies. Given the high incidence and severity of tendon and ligament injuries in elite rugby, we studied whether 13 gene polymorphisms previously associated with tendon/ligament injury were associated with elite athlete status. Participants from the RugbyGene project wer...

Single nucleotide polymorphisms (SNPs) of collagen genes have been associated with soft- tissue injury and running performance. However, their combined contribution to running performance is unknown. We investigated the association of two collagen gene SNPs with athlete status and performance in 1429 Caucasian participants, including 597 competitiv...

Objective: Concussions are common match injuries in elite rugby, and reports exist of reduced cognitive function and long-term health consequences that can interrupt or end a playing career and produce continued ill health. The aim of this study was to investigate the association between elite rugby status and 8 concussion-associated risk polymorp...

INTRODUCTION: Repeated ischemic preconditioning (IPC) can improve muscle and pulmonary oxygen on-kinetics, blood flow, and exercise efficiency, but these effects have not been investigated in severe hypoxia. The aim of the current study was to evaluate the effects of 7 d of IPC on resting and exercising muscle and cardio-pulmonary responses to seve...

Regular physical activity reduces the risk of several site-specific cancers in humans and suppresses tumour growth in animal models. The mechanisms through which exercise reduces tumour growth remain incompletely understood, but an intriguing and accumulating body of evidence suggests that the incubation of cancer cells with post-exercise serum can...

Rugby union (RU) is an intermittent team sport, with diverse playing positions, played internationally by both men and women. Considerable scientific attention has been devoted to men’s RU, however despite the growth in the women’s professional game, there is a significant lack of available physiological and normative data. The purpose of the prese...

Background The ergogenic effects of dietary supplements on endurance exercise performance are well-established; however, their efficacy in hot environmental conditions has not been systematically evaluated. Objectives (1) To meta-analyse studies investigating the effects of selected dietary supplements on endurance performance and core temperature...

Purpose: Genetic polymorphisms have been associated with the adaptation to training in maximal oxygen uptake (VO2max). However, the genotype distribution of selected polymorphisms in athletic cohorts is unknown, with their influence on performance characteristics also undetermined. This study investigated whether the genotype distributions of 3 po...

Full text: https://www.bases.org.uk/imgs/8931_bas_bases_tses_summer_2021_online_pg_12_130.pdf

Full text: https://www.bases.org.uk/imgs/8931_bas_bases_tses_summer_2021_online_pg_14_15742.pdf

Background Heat acclimation and acclimatisation (HA) is typically used to enhance tolerance to the heat, thereby improving performance. HA might also confer a positive adaptation to maximal oxygen consumption ( $$V{\text{O}}_{2\max }$$ V O 2 max ), although this has been historically debated and requires clarification via meta-analysis. Objectives...

Chronic pain is a considerable health concern worldwide, effecting almost 30% of all European adults. Osteoarthritis (OA), a progressive pro-inflammatory condition, is one of the leading causes of chronic pain (effecting 13% of all those over 50 years, globally) and is the most common cause of joint pain. The prevalence of non-steroidal anti-infla...

Elite rugby league and union have some of the highest reported rates of concussion (mild traumatic brain injury) in professional sport due in part to their full-contact high-velocity collision-based nature. Currently, concussions are the most commonly reported match injury during the tackle for both the ball carrier and the tackler (8–28 concussion...

The OMNIPLaNT Study 1 is a qualitative, questionnaire-based research project designed to compare dietary habits/eating behaviours between a range of dietary patterns, including omnivore, lacto-ovo-vegetarian, pesto-vegetarian and vegan. Please complete our questionnaire by clicking on the link below: https://survey.swan.ac.uk/index.php/788865?lan...

The outcomes of place kicks can have a large impact on Rugby Union match results. This study investigated the ball orientations used in place kicking and their potential implications for success. All 416 place kicks from the 2019 Rugby World Cup were grouped into one of three ball orientation categories, and predicted odds of success were calculate...

Reference list for Sêr Cymru COVID-19 research proposal (Heffernan et al., 2020).

The aim of this study was to determine the effect of five days dietary nitrate (NO3⁻) consumption on exercise tolerance and thermoregulation during cycling in hot, dry conditions. In a double-blind, randomised crossover design, 11 healthy males participated in an exercise tolerance test (Tlim) in the heat (35°C, 28% relative humidity), cycling abov...

Introduction Osteoarthritis (OA) is characterised by synovial joint pain, functional disability and affects ∼13% of people worldwide, of which ∼16-27% report Knee-OA (KOA). Glucosamine (Glu) is the most widely used nutraceutical treatment for OA despite a lack of scientific consensus, therefore alternative nutraceutical treatments are required. The...

Objectives: To profile the distances covered during international women's rugby union match-play and assess the duration-specific worst-case scenario locomotor demands over 60-s to 600-s epochs, whilst comparing the values determined by fixed epoch (FIXED) versus rolling average (ROLL) methods of worst-case scenario estimation and assessing positi...

This article reviews tendon and ligament injury incidence and severity within elite rugby union and rugby league. Furthermore, it discusses the biological makeup of tendons and ligaments and how genetic variation may influence this and predisposition to injury. Elite rugby has one of the highest reported injury incidences of any professional sport....

Purpose Partial body cryotherapy (PBC) has been shown to be beneficial for post-exercise recovery, however, no study has demonstrated the effectiveness of PBC as a recovery modality following elite rugby union (RU) training. RU is a unique sport that involves high velocity collisions with minimal protective wear and may represent a situation that c...

Minerals and trace elements (MTEs) are micronutrients involved in hundreds of biological processes. Deficiency in MTEs can negatively affect athletic performance. Approximately 50% of athletes have reported consuming some form of micronutrient supplement; however, there is limited data confirming their efficacy for improving performance. The aim of...

Introduction Incidence and outcomes of concussions have been hypothesised to be genetically influenced. The APOE Promoter G219T (rs405509) polymorphism has been associated with differential promoter activity and unfavourable outcomes after traumatic brain injury. The TT genotype is associated with a 3-fold greater risk of multiple concussions. The...

Introduction: Achilles tendon pathology and anterior cruciate ligament rupture are multifactorial conditions for which genetic risk factors have been identified. Single nucleotide polymorphisms (SNPs) within the MMP3 (rs591058, rs679620, rs650108) and TIMP2 (rs4789932) genes have previously been associated with tendon and ligament pathologies. Alth...

Background Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large...

Background Two common single nucleotide polymorphisms within the COL5A1 gene (SNPs; rs12722 C/T and rs3196378 C/A) have previously been associated with tendon and ligament pathologies. Given the high incidence of tendon and ligament injuries in elite rugby athletes, we hypothesised that both SNPs would be associated with career success. Results In...

Titin provides a molecular blueprint for muscle sarcomere assembly and sarcomere length can vary according to titin isoform expression. If variations in sarcomere length influence muscle fascicle length, this may provide an advantage for running performance. Thus the aim of this study was to investigate if the titin (TTN) rs10497520 polymorphism wa...

The purpose of this research study is to investigate whether the combination of Aquamin (a calcium-rich marine multi-mineral) and a polyphenol-rich pine bark extract (Enzogenol) has comparable or superior benefits to the market leading glucosamine sulphate supplement in the treatment of painful knee osteoarthritis. Participants will be diagnosed wi...

http://wp1191596.server-he.de/DATA/EDSS/C20/20-2008.pdf A complex phenotype is required for endurance performance. Therefore, it is likely that ‘elite status’ is polygenic. We investigated individually, and in combination, eight gene polymorphisms (ACE rs1799752, ACTN3 rs1815739, AGT rs699, HIF1A rs11549465, PPARGC1A rs8192678, UCP2 rs659336, UCP2...

Gene differences predisposing to atherosclerosis disease are important to identify and allow us to understand cellular processes involved in the progression and development of atherosclerotic disease. This protocol describes the experimental procedure for multiplex amplicon sequencing using barcoded primers. The procedures included in this chapter...

The genetic component of athletic performance approximates 50%, depending on which specific element of performance is considered. Limited genetic testing is already available commercially and genetic tests are likely to become powerful tools to improve sport performance in the future. Currently, however, selection of athletes for training squads or...

Th e general consensus amongst sport and exercise genetics researchers is that genetic tests based on current knowledge have little or no role to play in talent identifi cation or the individualised prescription of training to maximise performance or minimise injury risk. Despite this, genetic tests related to sport and exercise are widely availabl...

Background: Rugby union is a team sport consisting of diverse playing positions with differences in movement pattern and thus physiological demands (Cahill et al., 2012). Accordingly, players in specific positions exhibit distinct physiological traits (Quarrie et al., 2012), which should be reflected in distinct genetic profiles. The two most often...