Osteoarthritis is the most prevalent whole-joint degenerative disorder, and is characterized by the degradation of articular cartilage and the underlying bone structures. Almost 600 million people are affected by osteoarthritis worldwide. No curative treatments are available, and management strategies focus mostly on pain relief. Here, we provide a comprehensive overview of the available human genetic and functional genomics studies for osteoarthritis to date and delineate how these studies have helped shed light on disease etiopathology. We highlight genetic discoveries from genome-wide association studies and provide a detailed overview of molecular-level investigations in osteoarthritis tissues, including methylation-, transcriptomics-, and proteomics-level analyses. We review how functional genomics data from different molecular levels have helped to prioritize effector genes that can be used as drug targets or drug-repurposing opportunities. Finally, we discuss future directions with the potential to drive a step change in osteoarthritis research.

Ana Luiza Arruda

Georgia Katsoula

Shibo Chen

Ene Reimann

Peter Kreitmaier

Eleftheria Zeggini

Annual Review of Genomics and Human Genetics

自 2000 年出版的《基因组学和人类遗传学年度回顾》涵盖了基因组学领域的重大发展，因为它们适用于人类遗传学和人类基因组。我们对基因组技术、基因组结构和功能、基因改造、人类变异和群体遗传学、人类进化以及更重要的是人类遗传疾病的各个方面以及包括个体化医学等领域都特别感兴趣。

Since its inception in 2000, the Annual Review of Genomics and Human Genetics has covered significant advancements in the field of genomics, particularly as they relate to human genetics and the human genome. We are particularly interested in various aspects of genomic technologies, genomic structure and function, genetic modification, human variation and population genetics, human evolution, and, importantly, human genetic diseases, including fields such as personalized medicine.

《Annual Review of Genomics and Human Genetics》自2000年出版以来，涵盖了基因组学领域的重要进展，特别是与人类遗传学和人类基因组相关的研究。我们关注基因组技术、基因组结构与功能、基因改造、人类变异与群体遗传学、人类进化，以及人类遗传疾病等多个方面，尤其是个体化医学等领域。

Category	Quartile
生物学	2
生物学, 遗传学	2

The Genetics and Functional Genomics of Osteoarthritis

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Journal Info

Category	Quartile
GENETICS & HEREDITY	1