Article Text

Download PDFPDF

Advances in osteoarthritis genetics
  1. Kalliope Panoutsopoulou,
  2. Eleftheria Zeggini
  1. Department of Human Genetics, Wellcome Trust Sanger Institute, Cambridgeshire, UK
  1. Correspondence to Dr Eleftheria Zeggini and Dr Kalliope Panoutsopoulou, Wellcome Trust Sanger Institute, Hinxton, The Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1HH, UK; eleftheria{at} and kp6{at}


Osteoarthritis (OA), the most common form of arthritis, is a highly debilitating disease of the joints and can lead to severe pain and disability. There is no cure for OA. Current treatments often fail to alleviate its symptoms leading to an increased demand for joint replacement surgery. Previous epidemiological and genetic research has established that OA is a multifactorial disease with both environmental and genetic components. Over the past 6 years, a candidate gene study and several genome-wide association scans (GWAS) in populations of Asian and European descent have collectively established 15 loci associated with knee or hip OA that have been replicated with genome-wide significance, shedding some light on the aetiogenesis of the disease. All OA associated variants to date are common in frequency and appear to confer moderate to small effect sizes. Some of the associated variants are found within or near genes with clear roles in OA pathogenesis, whereas others point to unsuspected, less characterised pathways. These studies have also provided further evidence in support of the existence of ethnic, sex, and joint specific effects in OA and have highlighted the importance of expanded and more homogeneous phenotype definitions in genetic studies of OA.

  • Osteoarthritis
  • Genetics

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.