Abstract
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.
Highlights
Spondyloarthritis (SpA) is one of the most common groups of chronic inflammatory rheumatic diseases, affecting about 1.5% of the Caucasian adult population (Apostolakos et al, 2014; Costantino et al, 2018)
Muscle strength and muscle mass were similar in both groups; axial spondyloarthritis (axSpA) patients showed a decrease in muscle performance
ACTN3 rs1815739 and Vitamin D receptor (VDR) rs2228570 were shown to be associated with muscle performance
Summary
Spondyloarthritis (SpA) is one of the most common groups of chronic inflammatory rheumatic diseases, affecting about 1.5% of the Caucasian adult population (Apostolakos et al, 2014; Costantino et al, 2018). The entheses have a unique immune microenvironment that can be stimulated through the combination of several factors (such as genetic predisposition, mechanical stress in the joints, and microbiota immune activation), leading to prostaglandin E2 release and IL-23-IL17 axis activation (Schett et al, 2017). This phenomenon leads to an influx of innate immune cells, promoting chronic inflammation in the entheses, followed by mesenchymal tissues responses and osteogenesis (Benjamin and Mcgonagle, 2001; Schett et al, 2017). Our aim was to analyze four SNPs of these genes and to evaluate their influence in axial SpA (axSpA) susceptibility, phenotype and muscle properties
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
