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CC BY-NC-ND 4.0 · Rev Bras Ortop (Sao Paulo) 2023; 58(03): 478-486
DOI: 10.1055/s-0042-1757959
Artigo Original
Ombro e Cotovelo

Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study

Article in several languages: português | English
Lucas Rafael Lopes 
1   Laboratório de Pesquisa de Ciências Farmacêuticas, Universidade do Estado do Rio de Janeiro, RJ, Brasil
2   Programa de Pós-graduação em Saúde Pública e Meio Ambiente, Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brasil
,
João Antônio Matheus Guimarães 
3   Divisão de Pesquisa, Instituto Nacional de Traumatologia e Ortopedia Jamil Haddad, Rio de Janeiro, RJ, Brasil
,
Marcus Vinicius Galvão Amaral 
3   Divisão de Pesquisa, Instituto Nacional de Traumatologia e Ortopedia Jamil Haddad, Rio de Janeiro, RJ, Brasil
,
Camili Gomes Pereira 
1   Laboratório de Pesquisa de Ciências Farmacêuticas, Universidade do Estado do Rio de Janeiro, RJ, Brasil
,
Victor Soares Wainchtock 
1   Laboratório de Pesquisa de Ciências Farmacêuticas, Universidade do Estado do Rio de Janeiro, RJ, Brasil
,
Rodrigo Araujo Goes 
3   Divisão de Pesquisa, Instituto Nacional de Traumatologia e Ortopedia Jamil Haddad, Rio de Janeiro, RJ, Brasil
,
Vitor Almeida Ribeiro de Miranda 
3   Divisão de Pesquisa, Instituto Nacional de Traumatologia e Ortopedia Jamil Haddad, Rio de Janeiro, RJ, Brasil
,
Jamila Alessandra Perini 
1   Laboratório de Pesquisa de Ciências Farmacêuticas, Universidade do Estado do Rio de Janeiro, RJ, Brasil
2   Programa de Pós-graduação em Saúde Pública e Meio Ambiente, Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brasil
3   Divisão de Pesquisa, Instituto Nacional de Traumatologia e Ortopedia Jamil Haddad, Rio de Janeiro, RJ, Brasil
› Author Affiliations Financial Support Carlos Chagas Filho Foundation for Research Support of the State of Rio de Janeiro (FAPERJ) and the National Council for Scientific and Technological Development (CNPq).
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Abstract

Objective To evaluate the influence of polymorphisms on genes encoding type I collagen and the genetic susceptibility of tendinopathy.

Methodology Case-control study involving 242 Brazilian athletes from different sports modalities (55 cases of tendinopathy and 187 controls). The polymorphisms COL1A1 (rs1107946) and COL1A2 (rs412777, rs42524, and rs2621215) were analyzed by the TaqMan system. Odds ratio (OR) with their 95% confidence intervals (CIs) were calculated using a nonconditional logistic regression model.

Results The mean age was 24.0 ± 5.6 years old and 65.3% were men. Of the 55 cases of tendinopathy, 25.4% had > 1 affected tendon, the most frequent being patellar (56.3%), rotator cuff (30.9%) and elbow or hand flexors (30.9%). Age and amount of time of sports practice were associated with a higher chance of presenting tendinopathy (5 and 8 times, respectively). The frequency of variant alleles in control and case patients, respectively, was: COL1A1 rs1107946 24.0 and 29.6%; COL1A2 rs412777 36.1 and 27.8%; rs42524 17.5 and 25.9%; and rs2621215 21.3 and 27.8%. After adjusting for confounding factors (age and years of sports practice), COL1A2 rs42524 and rs2621215 polymorphisms were associated with increased risk of tendinopathy (OR = 5.5; 95%CI = 1.2–24.6 and OR = 3.9; IC95% = 1.1–13.5, respectively). The haplotype COL1A2 CGT was associated with low risk for disease development (OR = 0.5; 95%CI = 0.3–0.9).

Conclusion Age (≥ 25 years old), time of sports practice (≥ 6 years) and polymorphisms in the COL1A2 gene increased the risk of developing tendinopathy.

Keywords

athletes - tendinopathy - collagen type 1 - polymorphism, genetic

Contribution of the Authors

The authors contributed individually and significantly to the development of this article: Perini J. A., Lopes R. L., and Goes R. A. participated in the conception and design of the study. Perini J. A., Lopes R. L., and Goes R. A. gathered the data and developed the database. Perini J. A., Lopes R. L., Pereira C. G., and Wainchtock V. S. carried out the experiments and statistical analyses. Perini J. A., Lopes R. L., Amaral M. V. G., and Miranda V. A. R. performed data analysis and interpretation. Perini J. A., Lopes R. L., Pereira C. G., and Wainchtock V. S. wrote the manuscript. Guimarães J. A. M. and Amaral M. V. G. performed the critical revision of the manuscript for important intellectual content. All authors read and approved the final manuscript.


The multicenter work was developed at the Universidade do Estado do Rio de Janeiro (UERJ-ZO), Fundação Oswaldo Cruz (Fiocruz), and Instituto Nacional de Traumatologia e Ortopedia Jamil Haddad (INTO), Rio de Janeiro, RJ, Brazil.




Publication History

Received: 19 January 2022

Accepted: 12 September 2022

Article published online:
29 June 2023

© 2023. Sociedade Brasileira de Ortopedia e Traumatologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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