Newly discovered genetic variants in at least six different regions of the genome are associated with increased risk of developing lupus, according to three studies published online in Nature Genetics. Lupus is a complex autoimmune disorder, more common in women than men, that causes inflammation and damage to a wide range of tissues.
An international consortium (SLEGEN) led by John Harley and Carl Langefeld carried out a genome-wide association scan of more than 1,800 women with lupus, and identify variants in or near the genes ITGAM, KIAA1542, PXK, as well in a so-called 'gene desert' on chromosome 1, and a possible association with BLK amongst others. They also confirmed the association of several previously identified variants with susceptibility to lupus.
In a separate study, Swapan Nath and colleagues reported association with a variant in ITGAM. In a third study, Marta Alarcón-Riquelme and colleagues demonstrate association with the gene BANK1. Finally, a study to be published simultaneously in the New England Journal of Medicine by Timothy Behrens and colleagues reports association with variants in ITGAM and BLK. The proteins encoded by ITGAM, BLK, and BANK1 all function in cells of the immune system, and their association with susceptibility to lupus provides new insight into the mechanisms underlying the disease.
Swapan Nath (Oklahoma Medical Research Foundation, Oklahoma City, OK, USA)
Marta Alarcón-Riquelme (Uppsala University, Sweden)
John Harley (Oklahoma Medical Research Foundation, Oklahoma City, OK, USA)
Abstracts available online:
(C) Nature Genetics press release.
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