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Mitonuclear epistasis involving TP63 and haplogroup Uk: risk of rapid progression of knee OA in patients from the OAI
dc.contributor.author | Durán-Sotuela, Alejandro | |
dc.contributor.author | Oreiro, Natividad | |
dc.contributor.author | Fernández-Moreno, Mercedes | |
dc.contributor.author | Vázquez-García, Jorge | |
dc.contributor.author | Relaño-Fernández, Sara | |
dc.contributor.author | Balboa-Barreiro, Vanesa | |
dc.contributor.author | Blanco García, Francisco J | |
dc.contributor.author | Rego-Pérez, Ignacio | |
dc.date.accessioned | 2024-08-14T07:15:09Z | |
dc.date.issued | 2024-01-06 | |
dc.identifier.citation | Durán-Sotuela A, Oreiro N, Fernández-Moreno M, Vázquez-García J, Relaño-Fernández S, Balboa-Barreiro V, Blanco FJ, Rego-Pérez I. Mitonuclear epistasis involving TP63 and haplogroup Uk: risk of rapid progression of knee OA in patients from the OAI. Osteoarthritis Cartilage. 2024 May;32(5):526-534. | es_ES |
dc.identifier.issn | 1063-4584 | |
dc.identifier.issn | 10.1016/j.joca.2023.12.008 | |
dc.identifier.uri | http://hdl.handle.net/2183/38581 | |
dc.description.abstract | [Abstract] Objective: To investigate genetic interactions between mitochondrial deoxyribonucleic acid (mtDNA) haplogroups and nuclear single nucleotide polymorphisms (nSNPs) to analyze their impact on the development of the rapid progression of knee osteoarthritis (OA). Design: A total of 1095 subjects from the Osteoarthritis Initiative, with a follow-up time of at least 48-months, were included. Appropriate statistical approaches were performed, including generalized estimating equations adjusting for age, gender, body mass index, contralateral knee OA, Western Ontario and McMaster Universities Osteoarthritis Index pain, previous injury in target knee and the presence of the mtDNA variant m.16519C. Additional genomic data consisted in the genotyping of Caucasian mtDNA haplogroups and eight nSNPs previously associated with the risk of knee OA in robust genome-wide association studies. Results: The simultaneous presence of the G allele of rs12107036 at TP63 and the haplogroup Uk significantly increases the risk of a rapid progression of knee OA (odds ratio = 1.670; 95% confidence interval [CI]: 1.031-2.706; adjusted p-value = 0.027). The assessment of the population attributable fraction showed that the highest proportion of rapid progressors was under the simultaneous presence of the G allele of rs12107036 and the haplogroup Uk (23.4%) (95%CI: 7.89-38.9; p-value < 0.05). The area under the curve of the cross-validation model (0.730) was very similar to the obtained for the predictive model (0.735). A nomogram was constructed to help clinicians to perform clinical trials or epidemiologic studies. Conclusions: This study demonstrates the existence of a mitonuclear epistasis in OA, providing new mechanisms by which nuclear and mitochondrial variation influence the susceptibility to develop different OA phenotypes. | es_ES |
dc.description.sponsorship | ISCIII (“PI17/00210,” “PI19/01206,” “PI20/00614,” “RICORS RD21/0002/0009”), co-funded by ERDF/ESF, “A way to make Europe”/“Investing in your future”). Xunta de Galicia (“IN607A 2021/07” and IN607D 2021/13). IRP is supported by Contrato Miguel Servet-II Fondo de Investigación Sanitaria (CPII17/00026) estabilizado SERGAS. JVG is supported by grant IN606A 2022/048 from Xunta de Galicia, Spain. The Biomedical Research Networking Center (CIBER) is an initiative from ISCIII. | es_ES |
dc.description.sponsorship | info:eu-repo/grantAgreement/ISCIII/Programa Estatal de Fomento de la Investigación Científica y Técnica de Excelencia/PI17%2F00210/ES/IDENTIFICACION DE MARCADORES GENETICOS MITOCONDRIALES DE PROGRESION RAPIDA DE ARTROSIS DE RODILLA MEDIANTE TECNICAS DE SECUENCIACION MASIVA. | es_ES |
dc.description.sponsorship | info:eu-repo/grantAgreement/ISCIII/Programa Estatal de Generación de Conocimiento y Fortalecimiento del Sistema Español de I+D+I/PI19%2F01206/ES/VALIDACION CLINICA DE NUEVOS BIOMARCADORES PREDICTIVOS DE DIAGNOSTICO Y PRONOSTICO EN ARTROSIS: EL PROYECTO HPP | es_ES |
dc.description.sponsorship | info:eu-repo/grantAgreement/ISCIII/Programa Estatal de Generación de Conocimiento y Fortalecimiento del Sistema Español de I+D+I/PI20%2F00614/ES/IDENTIFICACION DE MUTACIONES DE ADNMT ESPECIFICAS DE ARTROSIS MEDIANTE SECUENCIACION MASIVA PARA VALORAR SU IMPACTO COMO FUTURAS DIANAS TERAPEUTICAS Y EN EL DIGANOSTICO DE FENOTIPOS | es_ES |
dc.description.sponsorship | Instituto de Salud Carlos III; RD21/0002/0009 | es_ES |
dc.description.sponsorship | Xunta de Galicia; IN607A 2021/07 | es_ES |
dc.description.sponsorship | Xunta de Galicia; IN607D 2021/13 | es_ES |
dc.description.sponsorship | Xunta de Galicia; IN606A 2022/048 | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.relation.uri | https://doi.org/10.1016/j.joca.2023.12.008 | es_ES |
dc.rights | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC-BY-NC-ND 4.0) | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Knee osteoarthritis | es_ES |
dc.subject | Mitonuclear epistasis | es_ES |
dc.subject | Rapid progression | es_ES |
dc.subject | mtDNA variation | es_ES |
dc.title | Mitonuclear epistasis involving TP63 and haplogroup Uk: risk of rapid progression of knee OA in patients from the OAI | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.access | info:eu-repo/semantics/openAccess | es_ES |
dc.date.embargoEndDate | 2025-06-01 | es_ES |
dc.date.embargoLift | 2025-06-01 | |
UDC.journalTitle | Ostearthritis and Cartilage | es_ES |
UDC.volume | 32 | es_ES |
UDC.issue | 5 | es_ES |
UDC.startPage | 526 | es_ES |
UDC.endPage | 534 | es_ES |
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