The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements

Samantha Beckley; Roopam Dey; Shaun Stinton; Willem van der Merwe; Thomas Branch; Alison V September; Mike Posthumus; Malcolm Collins

doi:10.3390/genes13122359

The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements

Genes (Basel). 2022 Dec 14;13(12):2359. doi: 10.3390/genes13122359.

Authors

Samantha Beckley¹, Roopam Dey², Shaun Stinton³, Willem van der Merwe^{1

4}, Thomas Branch³, Alison V September¹, Mike Posthumus^{1

5}, Malcolm Collins¹

Affiliations

¹ Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS) and the International Federation of Sports Medicine (FIMS) International Collaborating Centre of Sports Medicine, Division of Physiological Sciences, Department of Human Biology, University of Cape Town, Cape Town 7700, South Africa.
² Division of Biomedical Engineering and Division of Orthopaedic Surgery, Faculty of Health Sciences, University of Cape Town, Cape Town 7700, South Africa.
³ End Range of Motion Improvement, Atlanta, GA 30324, USA.
⁴ Sports Science Orthopaedic Clinic, Sports Science Institute of South Africa, Cape Town 7700, South Africa.
⁵ Sports Science Institute of South Africa, Cape Town 7700, South Africa.

Abstract

Joint laxity is a multifactorial phenotype with a heritable component. Mutations or common polymorphisms within the α1(V) (COL5A1), α1(XI) (COL11A1) and α2(XI) (COL11A2) collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum. The aim of this study was to investigate whether polymorphisms within these collagen-encoding genes are associated with measurements of knee joint laxity and computed ligament length changes within the non-dominant leg. One hundred and six healthy participants were assessed for genu recurvatum (knee hyperextension), anterior-posterior tibial translation, external-internal tibial rotation and ligament length changes during knee rotation of their non-dominant leg. Participants were genotyped for COL5A1 rs12722 (T/C), COL11A1 rs3753841 (C/T), COL11A1 rs1676486 (T/C) and COL11A2 rs1799907 (A/T). The genotype-genotype combination of any two or more of the four COL5A1 rs12722 CC, COL11A1 rs3753841 CC, COL11A1 rs1676486 TT and COL11A2 rs1799907 AA genotypes was associated with decreased active and passive knee hyperextension. These genotype-genotype combinations, including sex (male), increased age and decreased body mass collectively, also contributed to decreased passive knee hyperextension. These findings suggest that COL5A1, COL11A1 and COL11A2 gene-gene interactions are associated with knee hyperextension measurements of the non-dominant leg of healthy individuals.

Keywords: anterior-posterior tibial translation; external-internal tibial rotation; genu recurvatum; knee laxity; ligament; tendon.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Collagen* / genetics
Genotype
Humans
Joint Instability* / genetics
Knee Joint* / physiopathology
Male
Polymorphism, Genetic

Substances

Collagen
COL5A1 protein, human
COL11A1 protein, human
COL11A2 protein, human

Grants and funding

This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors. Samantha Beckley was funded by the National Research Foundation (NRF) and the University of Cape Town (Duncan Baxter Scholarship and Postgraduate Publication Incentive Award from the Faculty of Health Sciences Research Committee).