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Investigating the association between COL1A1 and COL3A1 gene variants and knee joint laxity and ligament measurements

  • Samantha Beckley
    Affiliations
    Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Department of Human Biology, University of Cape Town, Cape Town, South Africa
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  • Roopam Dey
    Affiliations
    Division of Biomedical Engineering and Division of Orthopaedic Surgery, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
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  • Shaun Stinton
    Affiliations
    End Range of Motion Improvement, Atlanta, GA, United States of America
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  • Willem van der Merwe
    Affiliations
    Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Department of Human Biology, University of Cape Town, Cape Town, South Africa

    International Federation of Sports Medicine (FIMS) Collaborative Centre of Sports Medicine, Cape Town, South Africa

    Sports Science Orthopaedic Clinic, Sports Science Institute of South Africa, Cape Town, South Africa
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  • Thomas Branch
    Affiliations
    End Range of Motion Improvement, Atlanta, GA, United States of America
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  • Alison V. September
    Affiliations
    Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Department of Human Biology, University of Cape Town, Cape Town, South Africa

    International Federation of Sports Medicine (FIMS) Collaborative Centre of Sports Medicine, Cape Town, South Africa
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  • Mike Posthumus
    Affiliations
    Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Department of Human Biology, University of Cape Town, Cape Town, South Africa

    International Federation of Sports Medicine (FIMS) Collaborative Centre of Sports Medicine, Cape Town, South Africa

    Sports Science Institute of South Africa, Cape Town, South Africa
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  • Malcolm Collins
    Correspondence
    Corresponding author at: Department of Human Biology, University of Cape Town, Private Bag X3, Rondebosch 7701, South Africa.
    Affiliations
    Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Department of Human Biology, University of Cape Town, Cape Town, South Africa

    International Federation of Sports Medicine (FIMS) Collaborative Centre of Sports Medicine, Cape Town, South Africa
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      Highlights

      • Type 1 Collagen gene (COL1A1) variants are associated with knee rotational laxity.
      • COL1A1 variants are associated with maximum and active tibial displacement.
      • They also associate with changes in medial and lateral cruciate ligament length.
      • These variants contribute to knee joint laxity in multilinear regression models.

      Abstract

      Background

      Joint laxity is a multifactorial phenotype with a heritable component. Type I collagen gene (COL1A1) mutations cause connective tissue disorders with joint hypermobility as a clinical feature, while variants within COL1A1 and type III collagen gene (COL3A1) are associated with musculoskeletal injuries. The aim of this study was to investigate whether COL1A1 and COL3A1 variants are associated with measurements of non-dominant knee joint laxity and computed ligament length changes.

      Methods

      106 moderately active uninjured participants were assessed for genu recurvatum, anterior-posterior tibial translation, external-internal tibial rotation and calculated ligament length changes during knee rotation. Participants were genotyped for COL1A1 rs1107946, rs1800012 and COL3A1 rs1800255.

      Findings

      The COL1A1 rs1107946 GG genotype had significantly larger external rotation [GG: 5.7° (4.9°;6.4°) vs GT: 4.6° (4.2°;5.5°), adjusted P = 0.014], internal rotation [GG: 5.9° (5.3°;6.6°) vs GT: 5.4° (4.7°;6.2°), adjusted P = 0.014], and slack [GG: 18.2° ± 3.2° vs GT: 16.1° ± 3.1°, adjusted P = 0.014]. The GG genotype at both COL1A1 variants had significantly larger active displacement [GG + GG: 6.0 mm (3.8 mm;8.0 mm) vs other genotype combinations: 4.0 mm (2.5 mm;6.0 mm), P < 0.001] and maximum displacement [GG + GG: 8.0 mm (6.9 mm;10.6 mm) vs other genotype combinations: 6.0 mm (5.0 mm;9.0 mm), P = 0.003]. COL1A1 rs1107946 significantly contributed to increased external and internal rotation in multilinear regression models, while both COL1A1 variants, significantly contributed to increased active displacement and slack. Larger medial and lateral cruciate ligament length changes were reported in participants with GG genotypes at both COL1A1 variants.

      Interpretation

      These findings suggest that the COL1A1 variants are associated with knee rotational laxity and changes in ligament length.

      Keywords

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