Hayashi Shinya, Matsubara Tsukasa, Fukuda Koji, Maeda Toshihisa, Funahashi Keiko, Hashimoto Marowa, Kamenaga Tomoyuki, Takashima Yoshinori, Kuroda Ryosuke
Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, Kobe, Hyogo 650-0017, Japan.
Department of Orthopaedic Surgery, Matsubara Mayflower Hospital, Kato, Hyogo 673-1462, Japan.
Biomed Rep. 2021 Mar;14(3):31. doi: 10.3892/br.2021.1407. Epub 2021 Jan 29.
Rheumatoid arthritis (RA) is a common chronic autoimmune disease leading to joint destruction. The aim of the present study was to identify the genomic factors predictive of susceptibility to joint destruction in patients with RA by performing a genome-wide association study of genetic variants, including single nucleotide polymorphisms (SNPs). The study sample included 228 patients with a diagnosis of RA in the past 5 years. Patients were classified into rapid (total Sharp score/years of RA, ≥50) and slow (total Sharp score/years of RA, <50) joint destruction groups for analysis. The association between the genome-wide SNP analysis and joint destruction was evaluated. The following SNPs were strongly associated with rapid radiographic joint destruction: rs2295926 (P<1x10), belonging to the () gene and rs11958855 (P<1x10), belonging to the gene (associated with the potassium calcium-activated channel subfamily). The identification of genetic predictors of rapid joint destruction in RA ( and ) may provide information regarding potential therapeutic targets, and this information may be used to assist in the management RA disease progression, thereby improving the functional outcomes for patients.
类风湿性关节炎（RA）是一种常见的导致关节破坏的慢性自身免疫性疾病。本研究的目的是通过对包括单核苷酸多态性（SNP）在内的基因变异进行全基因组关联研究，确定类风湿性关节炎患者关节破坏易感性的基因组预测因素。研究样本包括228例在过去5年中被诊断为类风湿性关节炎的患者。患者被分为快速（总Sharp评分/类风湿性关节炎病程，≥50）和缓慢（总Sharp评分/类风湿性关节炎病程，<50）关节破坏组进行分析。评估全基因组SNP分析与关节破坏之间的关联。以下SNP与快速影像学关节破坏密切相关：rs2295926（P<1x10），属于（）基因；rs11958855（P<1x10），属于与钾钙激活通道亚家族相关的基因。类风湿性关节炎中快速关节破坏的遗传预测因素（和）的鉴定可能为潜在治疗靶点提供信息，这些信息可用于协助管理类风湿性关节炎疾病进展，从而改善患者的功能结局。
