Related Experiment Video
Updated: Jun 25, 2026
09:08
Biotribological Testing and Analysis of Articular Cartilage Sliding against Metal for Implants
Published on: May 14, 2020
The COL1A1 gene and acute soft tissue ruptures
Malcolm Collins1, Michael Posthumus, Martin P Schwellnus
1South African Medical Research Council, Cape Town, South Africa. malcolm.collins@uct.ac.za
British Journal of Sports Medicine
|February 6, 2009
Summary
The rare TT genotype of COL1A1 may protect against acute soft tissue ruptures like cruciate ligament tears and tendon ruptures. This finding could improve risk assessment models for these injuries.
Area of Science:
- Genetics
- Orthopedics
- Sports Medicine
Background:
- The COL1A1 gene plays a crucial role in collagen production, essential for soft tissue integrity.
- A specific polymorphism (TT genotype) in the Sp1 binding site of COL1A1 intron 1 has been investigated for its association with soft tissue injuries.
- Previous studies showed conflicting or non-significant results regarding the TT genotype and injury risk.
Purpose of the Study:
- To combine and re-analyze data from multiple studies investigating the association between the COL1A1 TT genotype and acute soft tissue ruptures.
- To determine if the TT genotype confers a protective effect against cruciate ligament ruptures, shoulder dislocations, and Achilles tendon ruptures.
Main Methods:
- Meta-analysis of data from three independent studies.
- Comparison of TT genotype frequencies between patient groups with specific soft tissue injuries and a control group.
- Statistical analysis including odds ratios (OR) and p-values to assess significance.
Main Results:
- The TT genotype was significantly under-represented in individuals with cruciate ligament ruptures (0.3%), combined cruciate ligament ruptures and shoulder dislocations (0.4%), and combined cruciate ligament ruptures, shoulder dislocations, and Achilles tendon ruptures (0.4%).
- Compared to the control group (4.1%), the TT genotype showed a protective effect against these injuries (ORs ranging from 10.2 to 15.0, P < 0.0001).
Conclusions:
- The TT genotype of the COL1A1 Sp1 binding site polymorphism appears to be protective against acute soft tissue ruptures.
- This genetic factor should be considered in multifactorial models for assessing the risk of acute soft tissue injuries.
Related Concept Videos
01:38Inflammation
Overview
01:25Acute Inflammation III: Local and Systemic Effects
Acute inflammation produces a coordinated set of local and systemic changes that limit injury, eliminate pathogens, and initiate repair. These responses arise within minutes of infection, trauma, or chemical insult and are driven by vascular alterations and leukocyte-derived mediators. When the stimulus resolves, the reaction typically abates within days.Local EffectsAt the site of injury, arteriolar vasodilation increases blood flow, resulting in redness and warmth. Simultaneously, increased...
01:28Tissue Injury: Inflammation and Repair
Following injury, the integrity of the injured tissues must be reestablished. For example, in skin tissue, wound repair involves coordination among resident skin cells, blood mononuclear cells, extracellular matrix, growth factors, and cytokines to complete the healing cascade.
Formation of Blood Clot
In case of deep injuries, trauma to blood vessels results in blood loss. In the meantime, phospholipids released from the ruptured endothelial cellular membrane are converted into arachidonic...
Formation of Blood Clot
In case of deep injuries, trauma to blood vessels results in blood loss. In the meantime, phospholipids released from the ruptured endothelial cellular membrane are converted into arachidonic...
01:28Inflammatory Response
An inflammatory response is a localized, nonspecific immune reaction that occurs when a tissue is injured. It is characterized by redness, swelling, heat, and pain, which are commonly called the cardinal signs and symptoms of inflammation. Inflammation can sometimes result in a loss of function.
Inflammation can be triggered by various stimuli, such as impact, abrasion, chemical irritation, infections, and extreme hot or cold temperatures. These can damage cells and connective tissue fibers,...
Inflammation can be triggered by various stimuli, such as impact, abrasion, chemical irritation, infections, and extreme hot or cold temperatures. These can damage cells and connective tissue fibers,...
01:30Aneurysm I: Introduction
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
01:21Acute Pancreatitis II: Pathophysiology
The pathophysiology of acute pancreatitis centers on injury to pancreatic acinar cells, which initiates a cascade of harmful intracellular events.This injury leads to premature activation of trypsinogen to trypsin in the pancreas. Trypsin then activates other digestive enzymes, such as chymotrypsin, elastase, and phospholipase A2, which begin breaking down pancreatic tissue. The resulting autodigestion causes local inflammation, tissue swelling, hemorrhage, and fat necrosis.Injured acinar cells...