Genetic Risk Factor for Rheumatoid Arthritis and Lupus

Uploaded by NIHOD on 08.09.2010


Genetic Risk.

A longtime collaborative research program has identified a genetic
variation that increases the risk of two autoimmune diseases:
rheumatoid arthritis, or RA, and systemic lupus erythematosus,
or lupus.

Dr. Elaine Remmers and her colleagues used a large number of
DNA samples from people with RA, lupus, or neither disease.
They tested variants within 13 specific genes located in a region
of chromosome 2 associated with RA to see if these genetic
variations appeared in any of the samples.

Among the variants they examined, the researchers found several
genetic differences in a gene, known as STAT4.
STAT4 is important because it encodes a protein that plays a role
in the regulation and activation of certain cells of
the immune system.

The investigators learned that one variant form of the gene was
present much more often in samples from RA patients
compared with people without RA.
The scientists replicated that result in two independent collections of
RA cases and controls.
The researchers also found that the same variant of the STAT4 gene
was even more strongly linked with lupus in three independent
collections from patients and people without lupus.
The results suggest that people who carry two copies of the form of
the STAT4 gene associated with disease have a 60-percent
increased risk for RA and more than double the risk for lupus
compared with people who carry no copies of that form of the gene.

The research also suggests a shared disease pathway
for RA and lupus.
The success of the study can be attributed in part to the productive,
longstanding collaboration between NIAMS intramural
researchers and other scientists that the Institute supports around
the country.
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