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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Article info
Publication history
Published online: November 21, 2022
Accepted:
November 15,
2022
Received:
July 12,
2022
Identification
Copyright
© 2022 Elsevier Ltd. All rights reserved.
