Rheumatoid Arthritis and Genes | Action Medical Research | Children's Charity

Rheumatoid arthritis - can you have too many genes?

This research was completed on 31 December 2008

Published on 6 October 2006

Breakthrough research suggests variations in the number of genes we carry may greatly affect our state of health. These variations could be a major cause of a wide range of diseases, yet very little is known about them. Researchers are determined to find out more, through detailed genetic studies of people with rheumatoid arthritis.

What's the problem and who does it affect?

From genes to diseases

We all have around 25,000 different genes.(1) Variations in these genes from person to person help make us who we are, influencing everything from our appearance and personality to our state of health.

Researchers around the world are racing to identify exactly how variations in our genes influence our susceptibility to disease. The vast majority of studies are focusing on the sequence of bases that make up the genetic code. Large sums of money are being spent on finding out how changes, or mutations, in this sequence can cause disease.

This work has led to the discovery of genes for many illnesses, such as breast cancer, haemophilia and cystic fibrosis. But the genetic causes of many other common conditions, such as rheumatoid arthritis, still remain a mystery.

Breakthrough studies in 2005 revealed that another type of genetic variation may also have a major influence on our state of health. We have more than one copy of some of our genes, and the so-called ‘copy number’ can vary among individuals. This variation may explain the causes of all sorts of common diseases.

This exciting discovery could open the door to finding new ways to diagnose, and even cure, lots of different diseases. But so far very little is known about copy-number variation. Technical difficulties have made it extremely hard to study.

What is the project trying to achieve?

Finding the genes for rheumatoid arthritis

Researchers working on this project are committed to filling the huge information gap on how variations in copy number – the number of copies we have of particular genes – can lead to disease. In this project, they will concentrate on rheumatoid arthritis.

They are investigating whether the copy numbers within a particular cluster of genes, called CLECSF, vary between different people. They are also trying to find out whether there’s a link between any such copy-number variations and a person’s susceptibility to rheumatoid arthritis.

Researchers will develop sophisticated genetic tests to detect copy number variations in these genes. They will use the tests to screen over 9,000 people with rheumatoid arthritis.

What are the researchers' credentials?

Project LeaderProfessor A Brookes, PhD
LocationDepartment of Genetics, University of Leicester
DurationTwo years
Grant awarded6 July 2006
Start date1 January 2007
End date31 December 2008
Grant amount£99,140.00
Grant codeSP4139

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The experienced project team form part of the pre-eminent Genetics Department at the University of Leicester. It was the only genetics department in the UK to receive the top, 5* rating in the most recent nationwide assessments. The department is particularly strong in fundamental genetics. For example, researchers there discovered and developed the revolutionary technique of DNA fingerprinting.

The excellent general resources at the Department are currently being boosted by millions of pounds worth of investment in the genomics facilities. The department also has great strengths in genetics education, both for students and the public - recently empowered by winning £4.75M to develop a national Centre of Excellence in Teaching and Learning (CETL) in genetics.

Who stands to benefit from this research and how?

Boosting our understanding of basic genetics

Researchers hope their work will provide fundamental information on the genetic basis of disease. This is one of the first few studies into how variations in the number of copies we carry of particular genes can affect our health. It is at the cutting edge of genetics.

Researchers hope to improve our basic understanding of why we differ in our susceptibility to disease. The impact of these studies may be great. The lessons learned may be instructive in future studies of a wide range of different disorders.

Providing information on what causes rheumatoid arthritis

More specifically, this project may improve understanding of the genetic causes of rheumatoid arthritis. Researchers hope to find out whether variations in the copy number of certain genes can cause this widespread and devastating disorder. Their findings could help guide future studies that may eventually lead to new treatments. They may even help in the important, but ambitious, aim to find ways to diagnose a person’s susceptibility to rheumatoid arthritis before it sets in, so that preventative therapies may be developed.


  1. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004;431(7011):931-945.
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