Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Department of Human Biology, University of Cape Town, Cape Town, South Africa.
Division of Biomedical Engineering and Division of Orthopaedic Surgery, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Clin Biomech (Bristol). 2022 Dec;100:105822. doi: 10.1016/j.clinbiomech.2022.105822. Epub 2022 Nov 22.
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.
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.
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.
These findings suggest that the COL1A1 variants are associated with knee rotational laxity and changes in ligament length.
关节松弛是一种具有遗传成分的多因素表型。I 型胶原基因（COL1A1）突变导致以关节过度活动为临床特征的结缔组织疾病，而 COL1A1 和 III 型胶原基因（COL3A1）内的变体与肌肉骨骼损伤有关。本研究旨在探讨 COL1A1 和 COL3A1 变体是否与非优势膝关节松弛度的测量值和计算的韧带长度变化有关。
评估了 106 名适度活跃未受伤的参与者，以评估其膝关节的腘窝后凸、胫骨前后平移、内外旋转以及膝关节旋转过程中的计算韧带长度变化。参与者的 COL1A1 rs1107946、rs1800012 和 COL3A1 rs1800255 进行了基因分型。
COL1A1 rs1107946 GG 基因型的外旋明显更大[GG：5.7°（4.9°；6.4°）比 GT：4.6°（4.2°；5.5°），调整后的 P=0.014]，内旋也更大[GG：5.9°（5.3°；6.6°）比 GT：5.4°（4.7°；6.2°），调整后的 P=0.014]，且松弛度更大[GG：18.2°±3.2°比 GT：16.1°±3.1°，调整后的 P=0.014]。COL1A1 两个变体的 GG 基因型的主动位移明显更大[GG+GG：6.0mm（3.8mm；8.0mm）比其他基因型组合：4.0mm（2.5mm；6.0mm），P<0.001]和最大位移也更大[GG+GG：8.0mm（6.9mm；10.6mm）比其他基因型组合：6.0mm（5.0mm；9.0mm），P=0.003]。COL1A1 rs1107946 显著增加了多线性回归模型中外旋和内旋，而 COL1A1 两个变体都显著增加了主动位移和松弛度。在 COL1A1 两个变体均为 GG 基因型的参与者中，报告了更大的内侧和外侧十字韧带长度变化。
这些发现表明，COL1A1 变体与膝关节旋转松弛度和韧带长度变化有关。
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