Lupus susceptibility gene

Systemic lupus erythematosus is an autoimmune disease for which a number of susceptibility loci exist, but the precise genes and mutations involved remain unclear. In October 28 advanced online Nature Genetics, Ludmila Prokunina and colleagues at the University of Uppsala, Sweden, show that a regulatory polymorphism in the programmed cell death 1 gene (PDCD1) is associated with susceptibility to systemic lupus erythematosus in humans (Nature Genetics, doi:10.1038/ng1020, October 28, 2002).

Prokunina et al. analyzed 2,510 individuals, including members of five independent sets of families and unrelated individuals affected with SLE, for single-nucleotide polymorphisms (SNPs) in PDCD1. They observed that one intronic SNP in PDCD1 is associated with development of SLE in Europeans and Mexicans. In addition, they demonstrated that the associated allele of this SNP alters a binding site for the runt-related transcription factor 1 (RUNX1 — also called AML1) located in an intronic enhancer.

"Our results give new insight ...