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Association of Systemic Lupus Erythematosus with C8orf13-BLK and ITGAM-ITGAX

Two novel genetic loci associated with risk for systemic lupus erythematosus were found by scientists of the company Genentech. One locus turned out to encode for a promoter-region allele associated with weaker expression of and stronger expression of C8orf13 (chromosome 8p23.1). Individuals carrying the risk allele also displayed altered levels of messenger RNA in their lines. The second locus is on chromosome 16p11.22, close to the gene loci encoding for (, or CD11b) and ().

The scientists analysed the genotypes of 1311 affected subjects suffering from systemic lupus erythematosus and 1783 healthy control subjects. All diseased subjects were from North America with European ancestry. As control group, a Swedish control series was used. The group tested for 500 000 single-nucleotide polymorphisms (SNPs) in the genome to find a connection between the SNPs and systemic lupus erythematosus. The risk of disease for systemic lupus erythematosus is influenced by complex genetic and environmental factors. Alleles of -, , and have already been confirmed to be risk genes for the disease. With the Genentech study, two novel loci are added to the list of genetic predispositions for systemic lupus erythematosus.

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