The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies
BackgroundSpondyloarthritis (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 contribut...
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Frontiers Media S.A.
2021-08-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.688984/full |
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| author | Isabel Pimenta Isabel Pimenta Hugo Mateus Hugo Mateus Santiago Rodrigues-Manica Santiago Rodrigues-Manica Rita Pinheiro-Torres Rita Pinheiro-Torres Agna Neto Agna Neto Lúcia Domingues Lúcia Domingues Carolina Lage Crespo Atlas Sardoo Atlas Sardoo Pedro Machado Jaime C. Branco Jaime C. Branco Susana N. Silva Fernando M. Pimentel-Santos Fernando M. Pimentel-Santos |
| author_facet | Isabel Pimenta Isabel Pimenta Hugo Mateus Hugo Mateus Santiago Rodrigues-Manica Santiago Rodrigues-Manica Rita Pinheiro-Torres Rita Pinheiro-Torres Agna Neto Agna Neto Lúcia Domingues Lúcia Domingues Carolina Lage Crespo Atlas Sardoo Atlas Sardoo Pedro Machado Jaime C. Branco Jaime C. Branco Susana N. Silva Fernando M. Pimentel-Santos Fernando M. Pimentel-Santos |
| author_sort | Isabel Pimenta |
| collection | DOAJ |
| description | BackgroundSpondyloarthritis (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.MethodsWe 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.ResultsIn 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.ConclusionOur results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA. |
| first_indexed | 2024-12-17T21:54:19Z |
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| last_indexed | 2024-12-17T21:54:19Z |
| publishDate | 2021-08-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-9b9461132b13435885dbd1842ea525842022-12-21T21:31:10ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-08-011210.3389/fgene.2021.688984688984The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial SpondyloarthropathiesIsabel Pimenta0Isabel Pimenta1Hugo Mateus2Hugo Mateus3Santiago Rodrigues-Manica4Santiago Rodrigues-Manica5Rita Pinheiro-Torres6Rita Pinheiro-Torres7Agna Neto8Agna Neto9Lúcia Domingues10Lúcia Domingues11Carolina Lage Crespo12Atlas Sardoo13Atlas Sardoo14Pedro Machado15Jaime C. Branco16Jaime C. Branco17Susana N. Silva18Fernando M. Pimentel-Santos19Fernando M. Pimentel-Santos20Chronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalFaculdade de Ciências, Universidade de Lisboa, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalFaculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalCentro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Serviço de Reumatologia, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalCentro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Serviço de Reumatologia, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalCentro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Serviço de Reumatologia, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalInstituto Politécnico de Setúbal, Escola Superior de Saúde, Setúbal, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalInstituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Lisboa, PortugalCentre for Rheumatology and Department of Neuromuscular Diseases, University College London, London, United KingdomChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalCentro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Serviço de Reumatologia, Lisboa, PortugalCenter for Toxicogenomics and Human Health (ToxOmics), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalChronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, PortugalCentro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Serviço de Reumatologia, Lisboa, PortugalBackgroundSpondyloarthritis (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.MethodsWe 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.ResultsIn 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.ConclusionOur results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA.https://www.frontiersin.org/articles/10.3389/fgene.2021.688984/fullspondyloarthropathiesmusclemuscle performanceACTN3VDR |
| spellingShingle | Isabel Pimenta Isabel Pimenta Hugo Mateus Hugo Mateus Santiago Rodrigues-Manica Santiago Rodrigues-Manica Rita Pinheiro-Torres Rita Pinheiro-Torres Agna Neto Agna Neto Lúcia Domingues Lúcia Domingues Carolina Lage Crespo Atlas Sardoo Atlas Sardoo Pedro Machado Jaime C. Branco Jaime C. Branco Susana N. Silva Fernando M. Pimentel-Santos Fernando M. Pimentel-Santos The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies Frontiers in Genetics spondyloarthropathies muscle muscle performance ACTN3 VDR |
| title | 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_short | The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies |
| title_sort | effect of actn3 and vdr polymorphisms on skeletal muscle performance in axial spondyloarthropathies |
| topic | spondyloarthropathies muscle muscle performance ACTN3 VDR |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.688984/full |
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