Systemic lupus erythematosus susceptibility genes

Namjou B, Nath SK, Kilpatrick J et al 2002 Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLERl) at 5pl5.3. Arthritis Rheum 46 2937—2945... 

Morel L, Blenman KR, Croker BP, Wakeland EK The major murine systemic lupus erythematosus susceptibility locus, Slel, is a cluster of functionally related genes. Proc Natl Acad Sci U S A 2001 98 1787-92. 

Morel, L., Blenman, K.R., Croker, B.P., and Wakeland, E.K. (2001) The Major Murine Systemic Lupus Erythematosus Susceptibility Locus, Slel, Is a Cluster of Functionally Related Genes, Proc. Natl. Acad. Sci. USA 98, 1787-1792. 

Gl. Gaffney, R, Kearns, G. M., Shark, K. B., Ortmann, W. A., Selby, S. A., et al A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc. Natl. Acad. Sci. USA 95, 14875-14879 (1998). 

MHC genes also determine the susceptibility of individuals to autoimmune diseases. Among the diseases clearly related to MHC genes are insulin-dependent diabetes, multiple sclerosis, systemic lupus, erythematosus, myasthenia gravis, and rheumatoid arthritis. Alleles of MHC genes are also associated with non-immune system diseases, e.g., hemochromatosis, narcolepsy, and dyslexia. 

Deficiencies of early components of the classical complement pathway (e.g. Clq, Clr/Cls, C2, C3, C4) are associated with the development of systemic lupus erythematosus. The prevalence of systemic lupus erythematosus in homozygous Clq, C4, or C2 deficiency is approximately 90%, 75%, and 10-30%, respectively. The strongest susceptibility genes for the development of systemic lupus erythematosus in humans are null mutants of Clq. Several findings are compatible with the hypothesis that complement deficiency causes systemic lupus erythematosus by the failure to clear immune complexes and apoptotic cells (Botto, 2001). In consequence, uncleared apoptotic bodies may provide the source of the autoantigens that drive the autoimmune response of systemic lupus erythematosus. 

Kyogoku C, Dijstelbloem HM, Tsuchiya N et al 2002 Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus contribution of FCGR2B to genetic susceptibility. Arthritis Rheum 46 1242-1254... 

Nath SK, Kelly JA, Namjou B et al 2001 Evidence for a susceptibility gene, SLEVl, on chromosome 17pl3 in families with vitiligo-related systemic lupus erythematosus. Am J Hum Genet 69 1401-1406... 

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