No correlation between HSPG2 genetic variants and anthropometric characteristics within an ACL rupture risk modelling study

Background Anterior cruciate ligament (ACL) ruptures are common musculoskeletal injuries, influenced by extrinsic and intrinsic factors such as genetic variations and anthropometric traits. While these factors contribute to ACL rupture susceptibility, their interactions are underexplored. Objectives To investigate the relationship between HSPG2 variants and anthropometric traits in participants from an ACL study from Poland and Sweden. Hypothesis Genetic variability within HSPG2 loci along with height variability may collectively contribute to ACL rupture susceptibility. Sample and methods A genetic case-control association study was conducted with two cohorts from Poland and Sweden and a combined cohort. Participants were self-reported Caucasian and physically active. The combined cohort consisted of 265 asymptomatic controls (POL-CON=150; SWD-CON=116); 237 ACL rupture cases (POL-ACLR=141; SWD-ACLR=95) and a subgroup of 135 non-contact ACL ruptures (POL-NON=54; SWD-NON=79). Participants were genotyped for rs2291826 A>G and rs2291827 G>A and data were analysed using R, with p<0.05. Results Strong correlations were found between mass and BMI across all cohorts (r=0.78–0.81), suggesting these traits may influence injury risk. Sex-mass and sex-height correlations were consistent, with a strong negative correlation between sex and height in the Swedish cohort (r=-0.75). No positive correlations were found between the HSPG2 variants and anthropometric traits, except a moderate negative correlation between rs2291826A>G and height in the Swedish cohort (r=-0.019, p<0.009), suggesting possible genotype effect on height. Conclusion Mass and BMI were highlighted as potential risk factors for ACL rupture. Height-mass relationships varied by sex and population, suggesting both genetics and environment impact injury patterns. Further testing of the variants may clarify their role in ACL injury variability.