关键词: Epigenomics Familial aggregation Genomics Heritability Osteoarthritis Polygenic risk score

来  源:   DOI:10.1016/j.berh.2024.101972

Abstract:
Osteoarthritis (OA) is the most common form of arthritis with well recognized multifactorial nature. While several environmental factors such as older age, obesity and previous joint injury are strongly associated with its development, a genetic influence on OA has been recognized for over 80 years. Identification of genes associated with OA has received considerable attention over the last two decades, aided by the rapidly evolving genotyping and sequencing technologies. More than 300 genomic loci have been identified to be associated with OA at different joints. These findings are likely to help our better understanding of the pathogenesis of OA and lead to important therapeutic and diagnostic advances in this most common disabling rheumatic disorder. This article will review the data that support the role of genetic factors in common idiopathic OA.
摘要:
骨关节炎(OA)是关节炎的最常见形式,具有公认的多因素性质。虽然一些环境因素,如年龄,肥胖和以前的关节损伤与其发展密切相关,遗传对OA的影响已经被认识了80多年。在过去的二十年中,与OA相关的基因的鉴定受到了相当大的关注,借助快速发展的基因分型和测序技术。已鉴定超过300个基因组基因座与不同关节处的OA相关。这些发现可能有助于我们更好地了解OA的发病机理,并导致这种最常见的致残性风湿性疾病的重要治疗和诊断进展。本文将回顾支持遗传因素在常见特发性OA中的作用的数据。
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