COMMON FEATURES IN THE PROMOTER REGIONS OF UPREGULATED PSORIASIS RELATED GENES. Erin Geordi1, Anne Bowcock2. Biology Department, Washington University, St. Louis, MO1; Department of Human Genetics, Washington University Medical School, St. Louis, MO2.

 

Psoriasis (PS), a chronic inflammatory skin disease, affects around 2% of the Caucasian population. The disease is triggered by a combination of environmental and genetic risk factors. Susceptibility loci have been mapped to many regions throughout the genome, including the 1q21 region, which overlaps with a susceptibility region for atopic dermatitis. The region runs about 2Mb in length and includes about 37 genes that play roles in the maturation of skin. In addition to the linkage of psoriasis to the 1q21 region, association studies have also linked psoriasis with marker alleles, implying common variants that predispose to psoriasis from this region. My goal was to characterize this interval in depth, mapping the genes to the region using available genomic sequence in public databases, and to identify promoter elements. Because many of these genes exhibit variable levels of expression in psoriatic skin, the identification of these promoter elements might provide insight into the pathways involved in psoriasis. Another goal was to identify single nucleotide polymorphisms (SNPs) in the region to identify the gene most likely to predispose to psoriasis. I identified SNPs in the region by querying public databases and I am in the process of validating them. These SNPs will be tested for association in a large set of nuclear families.