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Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus.


ABSTRACT: Systemic lupus erythematosus (SLE) is a systemic autoimmune disorder characterized by the presence of auto-antibodies to nuclear antigens, immune complex deposition, and subsequent tissue destruction. Early studies in twins suggested that SLE has, at least in part, a genetic basis, and a role for class II alleles in the major histocompatibility complex has been known for over 30 years. Through both linkage studies and candidate gene studies, numerous additional genetic risk factors have been identified. The recent publication of two SNP-based genome-wide association studies (GWAS) has resulted in the confirmation of a number of previously identified genetic risk loci and has identified new previously unappreciated loci conferring risk for development of SLE. A role for gene copy number var

SUBMITTER: Ptacek T 

PROVIDER: S-EPMC2826785 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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