ECSS Paris 2023: OP-MH07
INTRODUCTION: Anterior cruciate ligament (ACL) ruptures is a common lower limb injury. The potential risk factors include a genetic component. Variants within the proteoglycan gene heparan sulphate proteoglycan 2 (HSPG2) was previously implicated in a South African population. This study aimed to investigate the genetic association of HSPG2, with ACL rupture risk in a large cohort recruited from participants from Poland (POL), Sweden (SWD), Australia (AUS) and South Africa (SA). METHODS: The combined (COMB) cohort comprised of 579 asymptomatic controls (COMB-CON: POL-CON= 150; SWD-CON= 116; AUS-CON= 80 and SA-CON= 234), and 822 ACL ruptures by non-contact and other mechanisms (COMB-ACLR: POL-ACLR= 141; SWD-ACL= 95; AUS-ACLR= 332; and SA-ACL= 253); subgroup (COMB-NON), n=434 ACL rupture by non-contact mechanism of injury (NON), (POL-NON= 54; SWD-NON= 79; AUS-NON= 154, and SA-NON= 149). Participants were genotyped for HSPG2 (rs2291826 A/G, rs2291827 G/A). Genotypes and inferred haplotypes were compared. Statistical significance was assumed if P< 0.05 and false discovery rate (FDR) was used for multiple comparisons. RESULTS: The HSPG2 rs2291826 AG genotype was associated with a reduced risk of ACL rupture (COMB-CON vs. COMB-ACLR: P= 0.002; FDR= 0.009; OR: 0.69; 95% CI: 0.55 – 0.87 and COMB-CON vs. COMB-NON: P= 0.003, FDR= 0.009, OR: 0.66; 95% CI: 0.50 – 0.87). The HSPG2 (rs2291826 A/G, rs2291827 G/A) G-A haplotype was also associated with reduced ACL rupture risk (COMB-CON vs. COMB-ACLR: P= 0.019; OR: 0.64; 95% CI: 0.79 - 0.99 and COMB-CON vs. COMB-NON: P= 0.040; OR: 0.60; 95% CI: 0.78 - 1.01). The recessive model was most significant when the COMB-CON vs. COMB-ACLR groups were compared (P= 0.007; FDR= 0.009; OR: 2.29; 95% CI: 1.22 – 4.31). No independent significant differences in the genotype or allele frequencies distribution for the HSPG2 rs2291827 G/A variant were detected in the combined cohort. CONCLUSION: Novel findings of this study include (i) an independent association of variants within the HSPG2 (rs2291826 A/G; with a protective effect) and confirming this was the (ii) association of the HSPG2-GA haplotype were a reduced risk. This study has identified the association of HSPG2 with a reduced risk and has specifically implicated a genomic interval within this gene with a protective effect. These findings provide the basis for further research to understand the exact biological mechanisms underpinning ACL rupture risk.
Read CV Alison SeptemberECSS Paris 2023: OP-MH07
INTRODUCTION: Systematic reviews suggest that up to 80% of Achilles tendon injuries occur in men. However, sex-differences in Achilles tendon mechanical and morphological properties have been inconsistent. Therefore, this study aimed to compare selected Achilles tendon properties between healthy young males and females. METHODS: Healthy young adults (4 males, 5 females; age: 31.3 ± 9.19 years, mass: 67.8 ± 17.48 kg height: 174.7 ± 9.59 cm) participated in this study. Study volunteers were sports science university students and pursued various sports disciplines without a recent or past Achilles tendon injury. Maximal plantarflexor isometric torque was measured by dynamometer in a prone position with the knee extended and ankle at 90˚. Achilles tendon moment arm and stiffness were measured using the tendon excursion method. Morphological parameters of the Achilles tendon at rest, such as cross-sectional area and thickness were assessed by ultrasound at the level of the medial malleoli. A series of independent t-tests were performed to analyze sex-differences using the JASP (version 0.19.3) statistical program. RESULTS: We observed no sex-differences in the measured morphological and mechanical variables of the Achilles tendon. Specifically: moment arm; male = 3.0±0.8 (cm) female= 2.92±0.36 (cm) stiffness; male = 293.97±347.80 (N/mm), female = 229.16±102.93 (N/mm) , and tendon thickness; male = 6.65±1.0 (mm) female = 6.36±0.57 (mm). Maximal plantarflexor isometric torque; male =72.5±23.05 (Nm), female =70.73±20.20 (Nm). Sex-differences in tendon cross-sectional area revealed a large effect size (d = 1.25) without statistical significance (male = 85.5±21.20 mm², female = 65±11.57 mm²) CONCLUSION: The current preliminary data are limited by the small sample size. The lack of sex-differences in Achilles tendon properties might be related to differences between the two sexes in training history, sports disciplines, and training status at the time of testing. Additional data we are currently collecting might help resolve the inconsistencies in sex-differences in Achilles tendon properties reported by previous studies.
Read CV Mehmet AKMANECSS Paris 2023: OP-MH07
INTRODUCTION: Bone stress injuries (BSIs) have a high injury burden in elite triathletes, with the rate of BSIs in females reported to be three times greater compared with males [1]. Being female, competitive sport participation, problematic low energy availability (LEA), vitamin D or iron deficiency, irregular menstrual cycles and large variations in training load are the most commonly reported risk factors for sustaining a BSI. Despite the high incidence and burden of BSIs in triathletes, and concomitant impact on performance, there is limited literature outlining the aetiology and risk factors for injury and illness in this population. This study aimed to establish the prevalence of low bone mineral density (BMD), iron deficiency and problematic LEA in elite short-course triathletes, and to compare the prevalence of these health determinants between males and females. METHODS: Forty-seven triathletes (21 males, age: 24.0 ± 3.4 y, height: 182.8 ± 5.8 cm, weight: 71.0 ± 5.4 kg; and 26 females, age: 26.0 ± 5.4 y, height: 168.2 ± 6.2 cm, weight: 57.7 ± 9.3 kg) were prospectively recruited and monitored over five consecutive seasons, with data collection occurring annually. Dual-energy X-ray absorptiometry (DEXA) was conducted on a GE Lunar iDXA (GE Medical Systems, using GE enCORE analysis software version 16 and 18 Madison, WI, USA) to assess BMD of the anteroposterior lumbar spine and femoral neck. A cut-off Z-score of <-1 was used as the threshold for low BMD. Fasted blood samples were collected via venepuncture. A cut-off of ≤30µg/L was used as the threshold for low ferritin. The Low Energy Availability in Females Questionnaire (LEAF-Q) was administered electronically to assess energy intake in the female athletes. A cut-off score of ≥8 was used to identify individuals at risk of LEA. RESULTS: A higher proportion of female athletes were found to have low BMD (28.57%; 95%CI=12.83-44.32) as compared to males (11.11%; 95%CI=-1.56-23.78). Females had an average lumbar spine and femoral neck Z-Score of -0.0 (SD=0.8) and -0.7 (SD=1.0) respectively, compared to -0.6 (SD=0.5) and 0.2 (SD=0.6) in males. The prevalence of low ferritin in females (12.00%; 95%CI=2.67-21.33) was higher than males (4.25%; 95%CI=-1.73-10.24). Of the 46 LEAF-Q responses from the female athletes across five years, 63.04% (95%CI=48.55-77.53) were above the low-risk threshold for LEA. CONCLUSION: This study outlines the differences in bone health related markers in male and female triathletes, with females demonstrating a higher prevalence of low BMD and low ferritin. This highlights the need to further investigate these health domains and explore relationships to bone health and BSIs, specifically in female triathletes given the high burden of these injuries in this population. 1. Crunkhorn ML, Toohey LA, Charlton P, Drew M, Watson K, Etxebarria N. Injury incidence and prevalence in elite short-course triathletes: a 4-year prospective study. Br J Sports Med. 2024;58:470-6.
Read CV Melissa CrunkhornECSS Paris 2023: OP-MH07