Systemic Lupus Erythematosus (SLE) is a complex disorder that predominately affects women of child-bearing age. Family studies indicate a genetic component to disease susceptibility, but inheritance does not follow a simple Mendelian pattern. Lupus is also likely to be influenced by environmental exposures.

In order to identify genes that contribute to lupus susceptibility, I am using a SNP-haplotype-based approach to define variation in a candidate region of human chromosome 1, and to characterize this variation in lupus cases and controls. Several lines of evidence suggest this region may influence lupus susceptibility. This region has been linked to lupus in several whole genome scans of human pedigrees, and corresponds to the Nba2 locus in mice. I am focusing on the HIN200 gene family in this region. These genes encode several interferon-inducible proteins, which are expressed in hematopoietic cell lineages and involved in signaling pathways relevant to lupus pathogenesis.

In addition to investigation of genomic variation in humans, I am also interested in the evolution of the HIN200 gene family. I am currently working on the bioinformatics analysis of the known members of this gene family in a variety of taxa. I plan to define a phylogenetic tree and use a variety of methodology to test for evidence of selective pressure acting on these proteins.