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Gene discovery means new hope for rheumatoid arthritis

Kathleen Blanchard's picture
Researchers announce a "milestone" for understanding rheumatoid arthritis

There may be new hope for treating rheumatoid arthritis, thanks to researchers who have conducted one of the largest gene studies to date that reveals what makes people more susceptible to the auto-immune disease that leads to inflammation of the joints, decreased mobility and pain.

The condition is thought to be the result of a combination of environmental factors and genes that are poorly understood.

Dr. Robert M. Plenge from the Harvard Medical School and the Broad Institute in the USA and Dr. Yukinori Okada from the RIKEN Center for Integrative Medical Sciences in Japan collaborated with investigators from 70 institutions worldwide to find 98 genes that could potentially contribute to the onset of rheumatoid arthritis.

The researchers say the finding potentially means new drugs that can treat the condition that affects 0.5-1% of adults in the developed world.

The study

For their study the researchers analyzed 10 million genetic variants called single nucleotide polymorphism (SNPs). They discovered 42 new regions known as loci associated with rheumatoid arthritis, which they explain brings the total number of regions now known in the genome to contribute to the disease to 101.

The study is the first large-scale investigation and the result of a meta-analysis that included 29,880 rheumatoid arthritis patients and 73,758 controls of European and Asian descent.

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They discovered many genes that overlap to contribute to the condition that are already being targeted by existing drugs, but was not known when the drugs were developed.

Many of the genes involved in rheumatoid arthritis also play a role in other diseases including human primary immunodeficiency disorders and blood cancers.

The finding doesn't mean scientists have found a cure for the disease, but it does mean new drugs can be developed that could potentially halt the progression of the disease. It also lends to a deeper understanding of who may be susceptible.

Peter K. Gregersen, a collaborator on the study, and head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research said in a press release the study "...provides us with a definitive list of the major common genetic variation involved in this disease, and points the way forward to develop new diagnostic and therapeutic approaches to this illness." The finding is published in the journal Nature.

Rheumatoid arthritis can be a disabling disease that affects the flexible joints and other organs and tissues in the body. The Feinstein researchers are conducting clinical trials in hopes of finding new treatments for rheumatoid arthritis. Understanding the genetic underpinnings of the disease can help scientists develop new therapies to improve quality of life for people with the disease. The new finding is considered a "milestone" for understanding rheumatoid arthritis.

Okada et al. "Genetics of rheumatoid arthritis contributes to biology and drug discovery" Nature, 2013 DOI: 10.1038/nature12873

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