GENETIC LINKAGE IN LUPUS

这个子项目是众多研究子项目之一

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by the production of auto-antibodies against intracellular antigens. Collection of multicase SLE families is ongoing. Over 200 families, of which 30% are African-American (AA), have been collected to date and subjected to genome-wide scanning for linked loci. There is considerable variability among SLE patients with respect to the clinical manifestations of disease and virtually any organ system may be affected. Little is known about whether the observed clinical variability is due to environmental effects, heterogeneity of SLE loci, or modifying genes. In recent publications, we have localized a signal specific to these familes in an AA subset on chromosome 13. We have also confirmed, in a new collection of Caucasian families, linkage to 4p16 and have identified possible epistasis between this and regions on chromosomes 2, 12, and 19. Further characterization of neuropsychiatric lupus has been completed and confirmation of prior principal component analysis is underway. SNP typing has just been completed for several candidate regions and genes.