Osteoarthritis as a genetic condition | Revista Española de Cirugía Ortopédica y Traumatología (English Edition)

Article information

Abstract

Osteoarthritis is an example of a complex disease, which arises from the interaction of genetic and environmental factors. In this paper we review the different types of studies that can be conducted in order to analyze the contribution of genetic factors to the pathogenesis of complex diseases as well as the genes whose polymorphisms have been associated to the risk of developing osteoarthritis.

The significant benefits that surgery can offer patients with advanced-stage osteoarthritis beg the question of whether there genetic studies are really of any use. The answer is clearly in the affirmative. On the one hand, an awareness of the genetic factors involved in the onset and development of osteoarthritis may help identify and control subgroups of individuals who are at a higher risk at an early stage. Furthermore, identification of the genes involves could help discover new therapeutic targets that may lead to effectively halting the process, which is something we cannot do with our patients at present.

Keywords:

Osteoarthritis

Genetics

Association studies

Polymorphisms

Resumen

La artrosis es un ejemplo de enfermedad compleja, que se origina por la interacción de factores genéticos y ambientales. En este trabajo revisamos los diferentes tipos de estudios que permiten analizar la contribución de los factores genéticos a la patogenia de las enfermedades complejas y los genes cuyos polimorfismos se han relacionado con el riesgo de desarrollar artrosis.

Dado el importante beneficio que aporta la cirugía a los pacientes con artrosis avanzada, cabría plantearse si estos estudios genéticos tienen realmente alguna utilidad. La respuesta es claramente afirmativa. Por un lado, el conocimiento de los factores genéticos implicados en la aparición y el desarrollo de la artrosis puede permitir identificar y controlar subgrupos de individuos de mayor riesgo en fases precoces. Por otro lado, la identificación de los genes involucrados puede llevar a determinar nuevas dianas terapéuticas que permitan frenar de manera eficaz el desarrollo del proceso, algo que no podemos ofrecer a nuestros pacientes en la actualidad.

Palabras clave:

Artrosis

Genética

Estudios de asociación

Polimorfismos

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