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Evaluation of Genetic Markers In Athletes And Patients With Cartilage Injury and Osteoarthritis Non-Responsive For Conservative Treatment – Methods Description

Evaluation of Genetic Markers In Athletes And Patients With Cartilage Injury and Osteoarthritis Non-Responsive For Conservative Treatment – Methods Description

Joao Vitor De Castro Fernandes, MD, MSc, BRAZIL Sergio Ferreira Barbosa Junior, MD, BRAZIL Ricardo di Lazzaro Filho, MD, MsC, BRAZIL Riccardo Gomes Gobbi, MD, PhD, BRAZIL Arnaldo J. Hernandez, MD, PhD, BRAZIL Marcia Uchoa De Rezende, MD, BRAZIL Tiago Lazzaretti Fernandes, MD, PhD, MSc, Post-Doctorate, BRAZIL

Hospital das Clinicas, University of Sao Paulo, São Paulo, São Paulo, BRAZIL


2023 Congress   ePoster Presentation   2023 Congress   rating (2)

 

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Summary: Genetic studies can help to identify the biological processes that are involved in cartilage injury anda osteoarthritis lesions and potential therapeutic targets. Recent studies have shown a correlation between SNPs with OA. Spittle samples were collected and DNA extracted to identify the genetic markers most related to worse prognosis and clinical outcomes for cartilage injury and osteoarthritis


Cartilage injuries and Osteoarthritis (OA) are a public health problem due to population senescence, causing pain, functional limitations and high treatment costs. Genetic studies can help to identify the biological processes that are involved in the induction of these lesions and, consequently, potential therapeutic targets. Single nucleotide polymorphisms (SNPs) are common forms of genetic variation in the population and genome-wide association studies (GWAS) are known to accelerate the localization of genes associated with diseases of multifactorial and complex inheritance as OA. Recent studies have shown a correlation between SNPs with OA. The present study aims to identify the genetic markers most related to worse prognosis and clinical outcomes for cartilage injury and osteoarthritis. This is a pilot study for cross-sectional evaluation with symptomatic chondral lesions and osteoarthritis patients undergoing conservative treatments without clinical improvement. Spittle samples were collected, quantified and DNA extracted according to the manufacturer's protocol. Athletes and patients non-responsive for conservative treatment were clinically evaluated by PROMS regarding pain and function. The assessments were complemented with radiography and magnetic resonance imaging. Patients were classified and included as non-responsive and, therefore, requiring surgical treatment. Proper identification of SNPs in athletes and patients non-responsive for conservative treatment may help to recommend personalized and the best surgical or non-surgical treatment options available. The present protocol was feasible to execute, and a large clinical trial will be performed. Genetic markers will allow personalized medicine and they have become a major topic of interest.


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