This web page was produced as an assignment for Gen677 at UW-Madison Spring 2012.
Systemic lupus erythematosus (SLE)
Description There are four types of lupus and systemic lupus erythematosus (SLE) is the most common form and has the widest array of symptoms. SLE is a chronic autoimmune disease that can affect the skin, joints, kidneys, brain, and other organs. Symptoms are associated with long-term inflammation and vary widely from individual to individual. Some symptoms associated with SLE include arthritis, butterfly rash, pleural effusions, and heart problems. The cause of SLE is currently unknown (PubMed Health).
Prevalence SLE has been seen in both sexes and in all age groups. However, women are at the highest risk for developing SLE. According to lupus.org, 9 out of 10 people with lupus are women. Additionally, it is most commonly seen in Asian and African American women and in women between 10 and 50 years old. Approximately 1.5 million Americans are living with the disease, and there are about 16,000 new cases reported each year (lupus.org).
Treatment lupus.org reports that a variety of medications are used to treat the symptoms of SLE, including corticosteroids and aspirin. The goals of the treatment are to reduce inflammation, prevent and treat flares, and minimize damage to organs. There is no cure for SLE, and treatment is focused on controlling symptoms (PubMed Health).
http://danielsprincemd.com/LUPUS/lupus.html
Integrin alpha M (ITGAM)
The cause of systemic lupus erythematosus is still not fully understood, but it appears to have a genetic component due to its strong clustering in families (PubMed Health). In recent years, researchers have been able to find many genes associated with the disease. One such gene is integrin alpha M (ITGAM). Researchers have identified and replicated an association between small nuclear polymorphisms (SNPs) in ITGAM and the risk of SLE [1][2].
ITGAM is a protein that binds to integrin beta 2 (ITGB2) to form Itgam-Itgb2 complex (UniProt).
ITGAM has a role in the immune system (Entrez). ITGAM is important for the adherence of neutrophils and monocytes to endothelium and in the phagocytosis of complement coated particles (PubMed Health). It is also involved in blood coagulation, integrin-mediated signaling pathway, and leukocyte migration (UniProt).
Purpose of this website
This website will present an in-depth, genomic and bioinformatic analysis of ITGAM in order to better understand its role in systemic lupus erythematosus.
References
[1] Nath, S. K. et al. (2008). A nonsynonymous functional variant in integrin-alpha-M (encoded by ITGAM) is associated with systemic lupus erythematosus. Nature Genetics. 40: 152-154.
[2] International Consortium for Systemic Lupus Erythematosus Genetics, Harley, J. B. et al. (2008). Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nature Genetics. 40: 204-210.