The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies
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| Publication Date: | 2021 |
| Other Authors: | , , , , , , , , , , |
| Format: | Article |
| Language: | eng |
| Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Download full: | http://hdl.handle.net/10362/125095 |
Summary: | Funding Information: This study was supported by the funding through project MyoSpA, from iNOVA4 health. PM was supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). Publisher Copyright: © Copyright © 2021 Pimenta, Mateus, Rodrigues-Manica, Pinheiro-Torres, Neto, Domingues, Lage Crespo, Sardoo, Machado, Branco, Silva and Pimentel-Santos.P |
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The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial SpondyloarthropathiesACTN3musclemuscle performancespondyloarthropathiesVDRMolecular MedicineGeneticsGenetics(clinical)Funding Information: This study was supported by the funding through project MyoSpA, from iNOVA4 health. PM was supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). Publisher Copyright: © Copyright © 2021 Pimenta, Mateus, Rodrigues-Manica, Pinheiro-Torres, Neto, Domingues, Lage Crespo, Sardoo, Machado, Branco, Silva and Pimentel-Santos.PBackground: Spondyloarthritis (SpA) are the most common group of chronic inflammatory rheumatic diseases affecting about 1.5% of the adult Caucasian population. Low back pain is the most common symptom. The aetiopathogenesis of SpA is multifactorial, with well-known genetic and environmental contributions. Furthermore, muscle properties might also be involved in the pathophysiological process and these could be modulated by the genetic background. Alpha-actinin-3 (ACTN3) and Vitamin D receptor (VDR) genes are well-known genes related with muscle performance. Our aim was to analyze four SNPs of these genes and to evaluate their influence in axial SpA (axSpA) susceptibility, phenotype and muscle properties. Methods: We performed a pilot study based on case-control approach involving 56 participants: 28 axSpA patients and 28 healthy controls matched by age, gender and levels of physical activity. Clinical, epidemiological and muscle characterization data—muscle physical properties (stiffness, tone, and elasticity), strength, mass, and performance, were collected. Two different muscles were considered for analysis, the Multifidus and Gastrocnemius. Four SNPs of ACTN3 (rs1815739) and VDR (rs2228570, rs731236, and rs7975232), were selected, analyzed and correlated with clinical, epidemiological and muscle characterization data. Results: In total, 51 individuals (27 axSpA patients and 24 matched controls) were eligible for further genetic analysis, 66.7% being male and with a mean age of 36 years. Muscle physical properties, muscle strength and muscle mass were similar in both groups; however, axSpA patients showed a decrease in muscle performance. None of the studied SNPs were associated with disease susceptibility/phenotype, muscle physical properties, muscle strength or muscle mass. However, ACTN3 rs1815739 and VDR rs2228570 were shown to be associated with muscle performance. Conclusion: Our results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA.Centro de Estudos de Doenças Crónicas (CEDOC)Faculdade de Ciências e Tecnologia (FCT)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Instituto de Higiene e Medicina Tropical (IHMT)RUNPimenta, IsabelMateus, HugoRodrigues-Manica, SantiagoPinheiro-Torres, RitaNeto, AgnaDomingues, LúciaLage Crespo, CarolinaSardoo, AtlasMachado, PedroBranco, JaimeSilva, Susana N.Pimentel-Santos, Fernando M.2021-09-24T02:25:03Z2021-08-112021-08-11T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/125095eng1664-8021PURE: 33719770https://doi.org/10.3389/fgene.2021.688984info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:06:18Zoai:run.unl.pt:10362/125095Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:45:39.749354Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| title |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| spellingShingle |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies Pimenta, Isabel ACTN3 muscle muscle performance spondyloarthropathies VDR Molecular Medicine Genetics Genetics(clinical) |
| title_short |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| title_full |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| title_fullStr |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| title_full_unstemmed |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| title_sort |
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| author |
Pimenta, Isabel |
| author_facet |
Pimenta, Isabel Mateus, Hugo Rodrigues-Manica, Santiago Pinheiro-Torres, Rita Neto, Agna Domingues, Lúcia Lage Crespo, Carolina Sardoo, Atlas Machado, Pedro Branco, Jaime Silva, Susana N. Pimentel-Santos, Fernando M. |
| author_role |
author |
| author2 |
Mateus, Hugo Rodrigues-Manica, Santiago Pinheiro-Torres, Rita Neto, Agna Domingues, Lúcia Lage Crespo, Carolina Sardoo, Atlas Machado, Pedro Branco, Jaime Silva, Susana N. Pimentel-Santos, Fernando M. |
| author2_role |
author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Centro de Estudos de Doenças Crónicas (CEDOC) Faculdade de Ciências e Tecnologia (FCT) NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) Instituto de Higiene e Medicina Tropical (IHMT) RUN |
| dc.contributor.author.fl_str_mv |
Pimenta, Isabel Mateus, Hugo Rodrigues-Manica, Santiago Pinheiro-Torres, Rita Neto, Agna Domingues, Lúcia Lage Crespo, Carolina Sardoo, Atlas Machado, Pedro Branco, Jaime Silva, Susana N. Pimentel-Santos, Fernando M. |
| dc.subject.por.fl_str_mv |
ACTN3 muscle muscle performance spondyloarthropathies VDR Molecular Medicine Genetics Genetics(clinical) |
| topic |
ACTN3 muscle muscle performance spondyloarthropathies VDR Molecular Medicine Genetics Genetics(clinical) |
| description |
Funding Information: This study was supported by the funding through project MyoSpA, from iNOVA4 health. PM was supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). Publisher Copyright: © Copyright © 2021 Pimenta, Mateus, Rodrigues-Manica, Pinheiro-Torres, Neto, Domingues, Lage Crespo, Sardoo, Machado, Branco, Silva and Pimentel-Santos.P |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2021-09-24T02:25:03Z 2021-08-11 2021-08-11T00:00:00Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/125095 |
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http://hdl.handle.net/10362/125095 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
1664-8021 PURE: 33719770 https://doi.org/10.3389/fgene.2021.688984 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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