ANDROGEN GENE RECEPTOR POLYMORPHIMSMS AND AUTOIMMUNITY

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DESCRIPTION (adapted from the applicant's abstract): The overall objective of this application for a Small Research Grant is to elucidate additional genetic factors that explain the excess risk of lupus associated with gender and ethnicity. The first specific aim is to determine if androgen receptor (AR) gene polymorphisms are associated with a risk for systemic lupus erythematosus (SLE). The investigator will test the hypotheses that the androgen receptor (AR) gene confers susceptibility to SLE and that nonrandom x-inactivation alone or in combination with maternal x transmission distortion is more common in lupus families. The second specific aim is to determine if AR gene polymorphisms are associated with the response to the weak androgen DHEA. The investigator will test the hypotheses that the AR gene modulates the response to DHEA and that the AR genotype is associated with variation in estradiol metabolism. The principal investigator is Patricia Fraser, M.D, Assistant Professor of Medicine at Harvard Medical School and Program Director of the Juvenile and Adolescent Rheumatology Program at the Brigham Arthritis Center. Robert Lahita, M.D., Ph.D., Associate Professor and Chief of the Division of Rheumatology at Columbia University, will provide samples. David Bing, Ph.D., Director of Clinical Research Testing at CRB Labs in Boston, will collaborate in data analysis.