A large-scale genetic study has enabled a team of international researchers to identify which genes cause rheumatism. Professor Paul de Bakker of the University Medical Center (UMC) Utrecht led the study.
De Bakker and his colleagues analyzed the genetic traits of 5,000 rheumatism patients and 15,000 healthy people. They subsequently detected five protein variants that play an important role in rheumatoid arthritis.
Geneticist, Professor Paul de Bakker works at UMC Utrecht and is one of the principal investigators of the study. “Our results explain which components of the immune system are involved in the autoimmune reaction against the body’s own tissue. This fundamental insight is essential so that we can ultimately develop better drugs.”
The research was carried out in collaboration with geneticist Dr. Soumya Raychaudhuri of Harvard Medical School in Boston. The results are reported in the journal Nature Genetics published on Sunday, January 29, 2012.
Autoimmune reaction
In most patients with rheumatoid arthritis (rheumatism), the immune system makes antibodies against the body’s own cartilage. This causes joint damage and pain. HLA proteins play a key role in the autoimmune reaction against the body’s own cartilage. Some variants of the HLA proteins enormously increase the chance of such an autoimmune reaction.
The researchers analyzed the relationship between HLA proteins and rheumatism very thoroughly. This is how, in three different HLA proteins, they discovered five variants that together increase the risk for rheumatism. These variants all affect the part of the HLA protein on which the body’s own particles or foreign particles must adhere. “Thanks to our results, it has become a bit easier to discover which parts of the body’s own cells are attacked in rheumatism patients,” according to De Bakker.
150 000 patients
More than 150,000 people suffer from rheumatoid arthritis in the Netherlands. They have chronic inflammation in several joints. The most common symptoms are pain and stiffness. There is no effective treatment. The inhibition of the inflammation and pain only alleviates the symptoms.