Evaluating the role of anthropometric and genetic risk factors in ACL injury susceptibility across an Australian and South African cohort

Firzana Firfirey; MJ Nancy Laguette; Malcolm Collins; Detlef Groth; Michael Hermannusen; Christiane Scheffler; Alison September

doi:10.52905/hbph2025.2.103

Authors

Firzana Firfirey Division of Physiological Sciences, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa https://orcid.org/0000-0002-8750-1654
MJ Nancy Laguette Division of Physiological Sciences, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa
Malcom Collins Division of Physiological Sciences, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa
Detlef Groth IBB, Bioinformatics, University of Potsdam, Potsdam, Germany https://orcid.org/0000-0002-9441-3978
Michael Hermanussen Pediatrician, Eckernförde-Altenhof, Germany https://orcid.org/0000-0003-4037-1597
Christiane Scheffler IBB, Human Biology, University of Potsdam, Potsdam, Germany https://orcid.org/0000-0003-1954-7578
Alison V. September Division of Physiological Sciences, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa

DOI:

https://doi.org/10.52905/hbph2025.2.103

Keywords:

Genetics research, Principal Component Analysis, COL12A1

Abstract

Background Anterior cruciate ligament rupture (ACL-R) is a common sports injury influenced by biomechanical, anthropometric, environmental, and genetic factors. Collagen gene polymorphisms have been implicated in ACL-R, with a whole-genome sequencing twin study highlighting COL12A1 rs970547 C>T as a variant of interest. However, the additive impact of the anthropometric traits and COL12A1 on ACL-R susceptibility remains unexplored.

Objectives To investigate the additive effect of anthropometric traits and COL12A1 rs970547 C>T on ACL-R susceptibility in an Australian and South African cohort with the a priori hypothesis that female T/T carriers were at an increased risk.

Sample and Methods The study included ACL-R cases (Australia n = 354; South Africa n = 252) and controls (Australia n = 84; South Africa n = 232). COL12A1 rs970547 C>T SNP was genotyped using TaqMan® assays. Anthropometric traits were sex-stratified/standardised. Logistic regression and principal component analyses were assessed.

Results No significant genetic associations were found for COL12A1 rs970547 C>T in the i) individual/combined and ii) male/female cohorts. PCA revealed clustering of anthropometrics in PC1–PC2, with PC3 being driven exclusively by rs970547 in each cohort.

Conclusion No associations were noted between the COL12A1 rs970547 T/T genotype and ACL-R risk. PCA, however, indicated that rs970547 may hold biological significance in ACL-R susceptibility, highlighting the complex interplay of genetic and anthropometric traits.

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