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Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study
Lucas Rafael Lopes1,2, João Antônio Matheus Guimarães3, Marcus Vinicius Galvão Amaral3
1Laboratório de Pesquisa de Ciências Farmacêuticas, Universidade do Estado do Rio de Janeiro, RJ, Brasil.
Revista Brasileira De Ortopedia
|July 3, 2023
Summary
Genetic factors, specifically certain polymorphisms in the COL1A2 gene, increase the risk of developing tendinopathy in athletes. Age and years of sports practice also contribute to this risk.
Area of Science:
- Genetics and Sports Medicine
- Molecular Biology
- Orthopedics
Background:
- Tendinopathy is a common condition in athletes, often leading to pain and impaired function.
- Type I collagen, encoded by COL1A1 and COL1A2 genes, is crucial for tendon structure and integrity.
- Genetic predisposition may play a role in the development of tendinopathy.
Purpose of the Study:
- To investigate the association between polymorphisms in type I collagen genes (COL1A1 and COL1A2) and the genetic susceptibility to tendinopathy in Brazilian athletes.
- To identify specific genetic variants and haplotypes that may increase or decrease the risk of developing tendinopathy.
Main Methods:
- A case-control study was conducted with 242 Brazilian athletes (55 with tendinopathy, 187 controls).
- Polymorphisms in COL1A1 (rs1107946) and COL1A2 (rs412777, rs42524, rs2621215) were analyzed using the TaqMan system.
- Logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (CIs), adjusting for age and years of sports practice.
Main Results:
- Age (≥ 25 years) and longer duration of sports practice (≥ 6 years) were significantly associated with an increased risk of tendinopathy.
- COL1A2 polymorphisms rs42524 (OR=5.5) and rs2621215 (OR=3.9) were associated with an increased risk of tendinopathy.
- The COL1A2 CGT haplotype showed a protective effect, associated with a reduced risk of tendinopathy (OR=0.5).
Conclusions:
- Age, duration of sports practice, and specific COL1A2 gene polymorphisms are significant risk factors for tendinopathy development in athletes.
- The findings highlight the role of genetic factors in tendinopathy susceptibility.
- Targeted genetic screening could potentially aid in identifying athletes at higher risk.
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