A review of the advances in understanding the genetic basis of spondylarthritis and emerging clinical benefit.

IF 4.5 2区医学 Q1 RHEUMATOLOGY Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI:10.1016/j.berh.2024.101982

Michael Stadler, Sizheng Steven Zhao, John Bowes

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Abstract

Spondyloarthropathies (SpA), including ankylosing spondylitis (AS) and psoriatic arthritis (PsA), have been shown to have a substantial genetic predisposition based on heritability estimates derived from family studies and genome-wide association studies (GWAS). GWAS have uncovered numerous genetic loci associated with susceptibility to SpA, with significant associations to human leukocyte antigen (HLA) genes, which are major genetic risk factors for both AS and PsA. Specific loci differentiating PsA from cutaneous-only psoriasis have been identified, though these remain limited. Further research with larger sample sizes is necessary to identify more PsA-specific genetic markers. Current research focuses on translating these genetic insights into clinical applications. For example, polygenic risk scores are showing promise for the classification of disease risk and diagnosis and future research should focus on refining these risk assessment tools to improve clinical outcomes for individuals with SpA. Addressing these challenges will help integrate genetic testing into patients care and impact clinical practice.

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回顾在了解脊柱关节炎遗传基础方面取得的进展以及新出现的临床益处。

脊柱关节病（Spondyloarthropathies，SpA），包括强直性脊柱炎（ankylosing spondylitis，AS）和银屑病关节炎（psoriatic arthritis，PsA），根据家族研究和全基因组关联研究（genome-wide association studies，GWAS）得出的遗传率估计值，已被证明有很大的遗传倾向。全基因组关联研究（GWAS）发现了许多与 SpA 易感性相关的基因位点，其中与人类白细胞抗原（HLA）基因有显著关联的位点是 AS 和 PsA 的主要遗传风险因素。目前已确定了区分 PsA 和单纯皮肤型银屑病的特定基因位点，但这些位点仍然有限。有必要进行样本量更大的进一步研究，以确定更多 PsA 特异性遗传标记。目前的研究重点是将这些遗传学见解转化为临床应用。例如，多基因风险评分显示了疾病风险分类和诊断的前景，未来的研究应侧重于完善这些风险评估工具，以改善 SpA 患者的临床疗效。应对这些挑战将有助于将基因检测纳入患者护理并影响临床实践。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Best Practice & Research in Clinical Rheumatology 医学-风湿病学

CiteScore

9.40

自引率

0.00%

发文量

审稿时长

27 days

期刊介绍： Evidence-based updates of best clinical practice across the spectrum of musculoskeletal conditions. Best Practice & Research: Clinical Rheumatology keeps the clinician or trainee informed of the latest developments and current recommended practice in the rapidly advancing fields of musculoskeletal conditions and science. The series provides a continuous update of current clinical practice. It is a topical serial publication that covers the spectrum of musculoskeletal conditions in a 4-year cycle. Each topic-based issue contains around 200 pages of practical, evidence-based review articles, which integrate the results from the latest original research with current clinical practice and thinking to provide a continuous update. Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. The review articles seek to address the clinical issues of diagnosis, treatment and patient management. Management is described in practical terms so that it can be applied to the individual patient. The serial is aimed at the physician in both practice and training.