Rheumatoid arthritis (RA)

http://www.articlesbase.com/medicine-articles/is-rheumatoid-arthritis-a-genetic-disease-235438.html

Rheumatoid arthritis (RA) is the most common inflammatory type of arthritis. It affects more than 2 million Americans and is still a leading cause of both disability as well as days lost from work. RA is more common in women than men, and typical onset for the disease is between 25 and 50 years of age. Symptoms of rheumatoid arthritis include swelling, loss of movement, stiffness, and pain in joints, most commonly, the fingers and wrists.

RA is to be feared and respected because it is a systemic autoimmune chronic condition that affects internal organs as well as joints. While the cause of RA is still not completely known, a recent study published in the New England Journal of Medicine conducted by researchers in the United States and Sweden links a genetic region to rheumatoid arthritis.

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Both groups of researchers used the new genome-wide association approach, which allows researchers to examine 300,000 to 500,000 small discrepancies in genetic material. Researchers examined genetic material in blood samples of all individuals that were part of the study.

The researchers found two genes in chromosome 9 responsible for the inflammation associated with RA: TRAF1 and C5. TRAF 1 codes for tumor necrosis factor, a specific target for many of the new biologic drugs used to treat RA. C5 codes for complement, a protein that also plays a big role in inflammation. Other genetic predisposing factors have been identified previously. These include HLA-DRB1 and PTPN22.

Elaine F. Remmers, Ph.D. in the Genetics and Genonics Branch of the NAMS Intramural Research Program and one of the authors of this study stated in a press release, "TRAF1-C5 showed association not only in the sample that we did with the North American Rheumatoid Arthritis Consortium but also independently in the Swedish group. By combining our information, we were able to make a much stronger case. The combined evidence was pretty impressive."

The researchers are unclear as to both how these genes are connected to RA as well as to which gene is causing the condition. Remmers added, "Actually, both genes are very interesting candidates. They both control inflammatory processes that really are relevant for the disease, so we could easily envision either of them playing a role - or both."

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The authors hope that future research can reveal more about how these genes are linked to RA. They also hope that by learning more about the genes' connection to the disease, they will become closer to producing more effective treatment for the condition.

Remmers went on to say, "We are hoping that we will find variants in either of the genes that will lead us to new targets for therapy. Once we understand how the RA-associated variants work, we may be able interfere with the pathways the variants are influencing and either prevent the disease or block its progression."

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http://www.physicaltherapy.med.ubc.ca/faculty_staff/faculty_staff_directory/faculty_directory_update/Linda_Li/ANSWER_Information.htm


N Engl J Med. 2007 Sep 20;357(12):1199-209. Epub 2007 Sep 5.
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR, Li W, Tan AK, Bonnard C, Ong RT, Thalamuthu A, Pettersson S, Liu C, Tian C, Chen WV, Carulli JP, Beckman EM, Altshuler D, Alfredsson L, Criswell LA, Amos CI, Seldin MF, Kastner DL, Klareskog L, Gregersen PK.

Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.

Comment in:

* N Engl J Med. 2007 Sep 20;357(12):1250-1.
http://www.ncbi.nlm.nih.gov/pubmed/17804836


http://www.wrongdiagnosis.com/r/rheumatoid_arthritis/stats.htm
The following statistics relate to the prevalence of Rheumatoid arthritis:

* 2.1 million people with rheumatoid arthritis (NIAMS)
* 1,736,099 people with rheumatoid arthritis in the USA 1996 1
* 2.1 million cases of RA in the US (NIH, The National Women’s Health Centre, 2004)
* 2 to 3 times more common in women than men in the US (NIH, The National Women’s Health Centre, 2004)
* About 2.5 million people in the US (American Medical Women’s Association)
* Affects women 3 times more than men in the US (American Medical Women’s Association)

http://www.cdc.gov/arthritis/data_statistics/arthritis_related_stats.htm

http://www.creakyjoints.com/go/article0062.shtml

general response to an emphasis on genetic determinism is.

Genotyping is used to identify candidate gene regions for genetic studies via genome-wide association studies (generally 10k to 500k markers), genome-wide linkage studies (6k markers) plus fine mapping panels, and custom candidate gene approaches assaying 96 to 1536 SNPs at one time.

http://www.clip.ubc.ca/research.shtm