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

Lucas Rafael Lopes; João Antônio Matheus Guimarães; Marcus Vinicius Galvão Amaral; Camili Gomes Pereira; Victor Soares Wainchtock; Rodrigo Araujo Goes; Vitor Almeida Ribeiro de Miranda; Jamila Alessandra Perini

doi:10.1055/s-0042-1757959

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

Rev Bras Ortop (Sao Paulo). 2023 Jun 29;58(3):478-486. doi: 10.1055/s-0042-1757959. eCollection 2023 Jun.

Authors

Lucas Rafael Lopes^{1

2}, João Antônio Matheus Guimarães³, Marcus Vinicius Galvão Amaral³, Camili Gomes Pereira¹, Victor Soares Wainchtock¹, Rodrigo Araujo Goes³, Vitor Almeida Ribeiro de Miranda³, Jamila Alessandra Perini^{1

2

3}

Affiliations

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.

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; collagen type 1; polymorphism, genetic; tendinopathy.

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Grants and funding

Suporte Financeiro Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ) e Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).