SLE (systemic lupus erythematosus) is a so-called autoimmune disease, meaning that the immune defense system attacks the body. SLE primarily affects young women and can lead to severe kidney failure, blood clots, and miscarriages, among other things.

A research team at Uppsala University directed by Associate Professor Marta E. Alarcón-Requelme has identified a new gene, BANK1, that is important to our understanding of how SLE arises and that may also come to be of significance for treatment. The gene affects the body’s B cells, which in turn produce the auto-antibodies that attack the body.

“The new treatments of SLE that have been developed primarily target the elimination of B cells. With the help of the gene we have now identified, in the future it may be possible to regulate the functions of B cells,” says Marta E. Alarcón-Requelme.

Moreover, her research team, working together with American and British colleagues, has performed a complete scan of the genome of 1,800 European and American SLE patients and thereby managed to identify a number of other genes that regulate the disease. All of these findings are now being published in three separate articles in the February issue of the scientific journal Nature Genetics and are already available in the Web version of the journal.

Read the articles:

The B Cell Gene BANK1 is Associated with Systemic Lupus Erythematosus Through the Effect of Several Functional Variants http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.79.html

A genome-wide association scan in women with systemic lupus erythematosus (SLE) identifies ITGAM, PXK, KIAA1542 and rs10798269 and confirms HLA, STAT4, FCGR2A, IRF5 and PTPN22
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.81.html

A non-synonymous functional variant in Integrin-a-M (ITGAM) is associated with systematic lupus erythematosus (SLE)
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.71.html

For more information, please contact Marta E. Alarcón-Riquelme, phone: +46 (0)18-471 48 05; cell phone: +46 (0)70-167 91 09, e-mail: marta.alarcon@genpat.uu.se, home page: http://www.genpat.uu.se/en/node126