Abstract：
Rheumatic diseases (RDs) are characterized by autoimmunity and autoinflammation and are recognized as complex due to the interplay of multiple genetic, environmental, and lifestyle factors in their pathogenesis. The rapid advancement of genome-wide association studies (GWASs) has enabled the identification of numerous single nucleotide polymorphisms (SNPs) associated with RD susceptibility. Based on these SNPs, polygenic risk scores (PRSs) have emerged as promising tools for quantifying genetic risk in this disease group. This chapter reviews the current status of PRSs in assessing the risk of RDs and discusses their potential to improve the accuracy of the diagnosis of these complex diseases through their ability to discriminate among different RDs. PRSs demonstrate a high discriminatory capacity for various RDs and show potential clinical utility. As GWASs continue to evolve, PRSs are expected to enable more precise risk stratification by integrating genetic, environmental, and lifestyle factors, thereby refining individual risk predictions and advancing disease management strategies.
摘要：
风湿性疾病（RD）的特征是自身免疫和自身炎症，并且由于多种遗传的相互作用而被认为是复杂的，环境,和生活方式因素在其发病机理中的作用。全基因组关联研究（GWAS）的快速发展使得能够鉴定与RD易感性相关的许多单核苷酸多态性（SNP）。基于这些SNP，多基因风险评分(PRS)已成为量化该疾病组遗传风险的有前景的工具.本章回顾了PRS在评估RD风险方面的现状，并讨论了它们通过区分不同RD的能力来提高这些复杂疾病的诊断准确性的潜力。PRS对各种RD表现出很高的辨别能力，并显示出潜在的临床实用性。随着GWAS的不断发展,PRS有望通过整合遗传，实现更精确的风险分层。环境,和生活方式因素，从而完善个人风险预测并推进疾病管理策略。
