bmm-2022-0103 Supplementary materials

<strong>Abstract</strong>
<strong>Aim:</strong> we aimed to examine the relationship of the <em>RETN</em> and <em>RARRES2</em> genes with hand osteoarthritis (HOA) susceptibility risk, clinical severity and pain. <strong>Methods:</strong> A total of 3,740 subjects comprising 1,180 participants with HOA and 2,560 controls were enrolled. Genetic association was evaluated at both single marker and haplotype levels using Plink. <strong>Results:</strong> Two significant hits, SNP rs4721 from <em>RARRES2</em> and rs3745368 from <em>RETN</em>, were identified with an increased risk of HOA. Significant associations were obtained for SNP rs3745368 on KL grade in HOA patients and SNP rs4721 on pain analog scales of HOA patients. <strong>Conclusion:</strong> Our results indicate that <em>RARRES2</em> and<em> RETN</em> affect the HOA risk and are associated with clinical features and severity in patients with HOA.

<strong>摘要</strong>
<strong>目的：</strong>本研究旨在探讨<em>RETN</em>和<em>RARRES2</em>基因与手骨关节炎（HOA）易感性风险、临床严重程度及疼痛之间的关系。<strong>方法：</strong>共纳入3740名受试者，其中包括1180名HOA患者和2560名对照者。采用Plink软件在单标记和单倍型水平上评估遗传关联。<strong>结果：</strong>发现两个显著关联位点，即来自<em>RARRES2</em>基因的单核苷酸多态性（SNP）rs4721和来自<em>RETN</em>基因的SNP rs3745368，均与HOA风险增加相关。在HOA患者中，SNP rs3745368与KL分级显著相关，SNP rs4721与疼痛模拟量表评分显著相关。<strong>结论：</strong>本研究结果表明，<em>RARRES2</em>和<em>RETN</em>基因影响HOA风险，并与HOA患者的临床特征及严重程度相关。