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Discovery Of Genomic Link To
Rheumatoid Arthritis
19
Sept 2007
As
edited by Joint-Pain-Forum.com
A
paper published this week in the open access journal PLoS
Medicine provides strong evidence that one specific part of
the genome is associated with rheumatoid arthritis. Rene Toes and
colleagues from Leiden University Medical Center, the Karolinska
Institute, and Celera studied four groups of patients and matched
controls. They found a consistent association with one specific region
of the genome -- a region on chromosome 9 that includes the two genes,
complement component 5 (C5) of the complement system (a primitive
system within the body that is involved in the defense against foreign
molecules) and a gene involved in the inflammatory response, TNF
receptor-associated factor 1(TRAF1) .
Rheumatoid
arthritis is a very common chronic illness that affects around 1% of
people in developed countries. It is caused by an abnormal immune
reaction to various tissues within the body. As well as affecting
joints and causing an inflammatory arthritis, it can also affect many
other organs of the body. An association has been shown previously in
humans with the part of the genome that contains the human leukocyte
antigens (HLAs), which are involved in the immune response. In
addition, previous work in mice that have a disease similar to human
rheumatoid arthritis has identified a number of possible candidate
genes including C5.
The researchers took 40
genetic markers, single-nucleotide polymorphisms (SNPs), from across
the region that included the C5 and TRAF1 genes. They compared which of
the alternate forms of the SNPs were present in 290 patients with
rheumatoid arthritis and 254 unaffected participants of Dutch origin.
They then repeated the study in three other groups of patients and
controls of Dutch, Swedish, and US origin. They found a consistent
association with rheumatoid arthritis of one region of 65 kilobases
that included one end of the C5 gene as well as the TRAF1 gene and then
refined the area of interest to a piece marked by one particular SNP
that lay between the genes. They went on to show that the genetic
region in which these genes are located may be involved in the binding
of a protein that modifies the transcription of genes. Furthermore,
they showed that one of the alternate versions of the marker in this
region was associated with more aggressive disease.
This
study adds to accumulating evidence that this region of the genome is
associated with rheumatoid arthritis. The next steps will be to
identify the precise genetic change involved.
----------------------------
Article
adapted by
www.Joint-Pain-Forum.com from original press release.
----------------------------
Everything published by PLoS
Medicine is Open Access: freely available for anyone to read,
download, redistribute and otherwise use, as long as the authorship is
properly attributed. In this week's press release: Strong evidence that
region on chromosome 9 is associated with rheumatoid arthritis
Citation:
Kurreeman FAS, Padyukov L, Marques RB, Schrodi SJ, Seddighzadeh M, et
al. (2007) A candidate gene approach identifies the TRAF1/C5 region as
a risk factor for rheumatoid arthritis. PLoS Med
4(9): e278. doi:10.1371/journal.pmed.0040278
Click here for access to the
published paper.
Contact:
Dr. Rene Toes
Leiden
University Medical Center
Dept of Rheumatology
Albinusdreef
2, 2333 ZA Netherlands
About PLoS
Medicine
PLoS Medicine is an open access, freely
available international medical journal. It publishes original research
that enhances our understanding of human health and disease, together
with commentary and analysis of important global health issues. For
more information, visit http://www.plosmedicine.org/
About
the Public Library of Science
The Public Library of Science
(PLoS) is a non-profit organization of scientists and physicians
committed to making the world's scientific and medical literature a
freely available public resource. For more information, visit http://www.plos.org/
Source: Andrew Hyde
Public
Library of Science
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