Rheumatoid Arthritis: Genetics


Rheumatoid arthritis (RA) is a chronic autoimmune disease, affecting up to 1% of the UK population. It is thought that RA is the result of several genetic and environmental susceptibility factors, which in combination can result in disease manifestation. Overall it is estimated that genetic factors contribute 50% of disease risk, indicating a greater understanding of this component is essential.

Although genetic studies have been performed for several years, a greater understanding of human genetics, combined with advances in molecular technology has revolutionised the identification of RA‚Äźassociated genes. To date 34 susceptibility loci have been identified, including many immune genes indicating that immune disparity may have a great role to play in RA pathogenesis.

With several potential associations in the pipeline, future challenges focus on the identification of biological functions of susceptibility genes. These discoveries will provide crucial information for unravelling the pathogenic disease networks and elucidating potential targets for novel RA therapies.

Key Concepts:

  • Rheumatoid arthritis has a significant genetic contribution to risk.

  • Recent advances have identified a number of genes or genomic regions associated with disease risk.

Keywords: rheumatoid arthritis; genetics; GWA studies; HLA; PTPN22

Figure 1.

X‐ray of the hands of an RA patient.

Figure 2.

Sequential stages of a genetic study, from genome‐wide association to functional validation.



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Further Reading

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Cordell HJ and Clayton DG (2005) Genetic association studies. Lancet 366(9491): 1121–1131.

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Hattersley AT and McCarthy MI (2005) What makes a good genetic association study? Lancet 366(9493): 1315–1323.

Hopper JL, Bishop DT and Easton DF (2005) Population‐based family studies in genetic epidemiology. Lancet 366(9494): 1397–1406.

McAllister K, Eyre S and Orozco G (2011) Genetics of rheumatoid arthritis: GWAS and beyond. Open Access Rheumatology: Research and Reviews 3: 1–16.

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How to Cite close
Steel, Kathryn, and Barton, Anne(Aug 2011) Rheumatoid Arthritis: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005566.pub2]