RevisiónGenética de la artrosisGenetics of osteoarthritis
Section snippets
Estudios genéticos en la artrosis
Los primeros estudios que han permitido mostrar el componente genético de la artrosis (OA, osteoarthritis) han sido los estudios de gemelos, de riesgo relativo entre hermanos y de agregación familiar. Todos estos trabajos permiten obtener una estimación de la heredabilidad, que cuantifica la importancia de los factores genéticos en la enfermedad. Las estimaciones de heredabilidad en la OA varían en función de los diferentes estudios consultados. Sin embargo, se puede decir que la heredabilidad
Problemas específicos del estudio de la genética de la artrosis
Uno de los problemas que se plantea en el estudio genético de la OA es la heterogeneidad de fenotipos de la OA y cómo han sido considerados en los diferentes estudios que después se combinan en metaanálisis u otros estudios colaborativos. Esta variabilidad reduce el poder estadístico de los estudios de asociación. Por ello, recientemente se ha recomendado una estandarización de los fenotipos de los pacientes para futuros GWAS. Se recomienda estratificar los análisis por edad, sexo, BMI y
Factores genéticos de susceptibilidad a la artrosis
En este apartado se tratan los loci asociados con OA más relevantes.
Futuro de los estudios genéticos de artrosis
El estudio de los factores genéticos implicados en la susceptibilidad a la OA es un campo que ha progresado notablemente en los últimos años. En la actualidad se puede hablar de 11 loci asociados con OA en población europea al nivel requerido en los GWAS y 4 cerca de este nivel. Aun así, el número de genes de susceptibilidad encontrados es relativamente bajo si lo comparamos con otras enfermedades complejas. Los investigadores del campo proponen una serie de estrategias adicionales para aplicar
Derecho a la privacidad y consentimiento informado
Los autores declaran que en este artículo no aparecen datos de pacientes.
Confidencialidad de los datos
Los autores declaran que en este artículo no aparecen datos de pacientes.
Protección de personas y animales
Los autores declaran que para esta investigación no se han realizado experimentos en seres humanos ni en animales.
Conflicto de intereses
Los autores declaran no tener ningún conflicto de intereses.
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Osteoarthritis, entheses, and long bone cross-sectional geometry in the Andes: Usage, history, and future directions
2020, International Journal of PaleopathologyCitation Excerpt :Affecting both cartilage and bone structure and function in a diathrodial joint, OA is a multifactorial process in which mechanical factors play a central role (Hunter and Felson, 2006, 639). Medical studies show that a combination of genetic, systemic, and biomechanical factors may influence OA risk, with genetic predisposition currently under critical scrutiny (Rodriguez-Fontenla and Gonzalez, 2015; Warner and Valdes, 2016; Yucesoy et al., 2015). Typical systemic risk factors include advancing age (e.g., postmenopausal women) and those with lower bone density (e.g., osteoporotic persons).
The transcriptional coactivator YAP1 is overexpressed in osteoarthritis and promotes its progression by interacting with Beclin-1
2019, GeneCitation Excerpt :Chondrocytes represent the only cells in mature cartilage that maintain matrix integrity and tissue homeostasis (Qin et al., 2012). Consistent with this, altered gene expression in chondrocytes is associated with the synthesis and degradation of cartilage (Aigner et al., 2002; Kraus et al., 2007; Oussedik et al., 2015; Panoutsopoulou and Zeggini, 2013; Peffers et al., 2018; Qin et al., 2012; Rodriguez-Fontenla and Gonzalez, 2015). Accordingly, it is considered that the in-depth analyses of articular chondrocytes will likely be of considerable significance for interpreting the pathogenesis of OA and combating the clinical disease (Mobasheri et al., 2014).
Genome-wide DNA methylation profile implicates potential cartilage regeneration at the late stage of knee osteoarthritis
2016, Osteoarthritis and CartilageCitation Excerpt :GWAS studies of OA identified several susceptible loci, but they only explained a small proportion of the heritability. This missing heritability could be partly due to epigenetics2, which can cause altered gene expression without changes in DNA sequence through DNA methylation, histone modifications, and non-coding RNAs3. The most extensively studied epigenetic modulation is DNA methylation.
The use of acupuncture and indirect moxibustion with ginger in an adult patient diagnosed with severe clavicular osteoarthritis
2019, Revista Internacional de AcupunturaAssociation study of the functional variants of the GLIS3 gene with risk of knee osteoarthritis
2021, Clinical RheumatologyDNA methylation of noncoding RNAs: New insights into osteogenesis and common bone diseases
2020, Stem Cell Research and Therapy