Genetics of SLE Science Update
(publications posted online at www.behrenslab.org)

Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE
Individuals with SLE were compared with a matched control group. Genetic association was found between those individuals with SLE that also had a change in the function of the protein molecule Tyrosine Phosphatase. Tyrosine Phosphatase is believed to play a fundamental role in regulating the immune system. This association has also been documented with individuals with Rheumatoid Arthritis.

Interferon-Inducible Gene Expression Signature in Peripheral Blood Cells of Patients with Severe Lupus
In an experiment using gene expression profiling of blood cells, we identified distinct patterns of how genes are expressed that distinguish most SLE patients from healthy controls. About half the SLE patients showed an impaired expression of genes in the interferon pathway. This 'interferon expression signature' was a way to gauge more severe disease involving the kidneys or central nervous system, for example. These results provide new information about the genetics underlying SLE and may lead to development of therapies that target the interferon pathway and thus help those patients with more severe SLE.



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