Pimenta Isabel, Mateus Hugo, Rodrigues-Manica Santiago, Pinheiro-Torres Rita, Neto Agna, Domingues Lúcia, Lage Crespo Carolina, Sardoo Atlas, Machado Pedro, Branco Jaime C, Silva Susana N, Pimentel-Santos Fernando M
Chronic Diseases Research Center (CEDOC), NOVA Medical School, Universidade Nova de Lisboa, Lisboa, Portugal.
Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.
Front Genet. 2021 Aug 11;12:688984. doi: 10.3389/fgene.2021.688984. eCollection 2021.
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. () and () 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.
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 (rs1815739) and (rs2228570, rs731236, and rs7975232), were selected, analyzed and correlated with clinical, epidemiological and muscle characterization data.
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, rs1815739 and rs2228570 were shown to be associated with muscle performance.
Our results suggest an association between and polymorphisms and muscle performance in axSpA.
脊柱关节炎（SpA）是最常见的慢性炎症性风湿性疾病组，影响约1.5%的成年白种人人口。下背痛是最常见的症状。SpA的病因发病机制是多因素的，有众所周知的遗传和环境因素。此外，肌肉特性可能也参与了病理生理过程，并且这些特性可能受遗传背景的调节。（）和（）基因是与肌肉性能相关的知名基因。我们的目的是分析这些基因的四个单核苷酸多态性（SNP），并评估它们对轴性脊柱关节炎（axSpA）易感性、表型和肌肉特性的影响。
我们基于病例对照方法进行了一项试点研究，涉及56名参与者：28名axSpA患者和28名年龄、性别及身体活动水平相匹配的健康对照。收集了临床、流行病学和肌肉特征数据——肌肉物理特性（刚度、张力和弹性）、力量、质量和性能。分析时考虑了两块不同的肌肉，多裂肌和腓肠肌。选择、分析了（rs1815739）和（rs2228570、rs731236和rs7975232）的四个SNP，并将其与临床、流行病学和肌肉特征数据进行关联分析。
总共51名个体（27名axSpA患者和24名匹配对照）符合进一步基因分析的条件，66.7%为男性，平均年龄36岁。两组的肌肉物理特性、肌肉力量和肌肉质量相似；然而，axSpA患者的肌肉性能有所下降。所研究的SNP均与疾病易感性/表型、肌肉物理特性、肌肉力量或肌肉质量无关。然而，（基因的）rs1815739和（基因的）rs2228570显示与肌肉性能相关。
我们的结果表明，axSpA中（相关基因）的多态性与肌肉性能之间存在关联。
