The genetics of systemic lupus erythematosus.
There is considerable evidence that the development of systemic lupus erythematosus (SLE) has a strong genetic basis. For more than 20 years, much effort has been made to understand the genetics of SLE. Association studies in humans suggest the existence of genetic effects by the alleles encoded in the HLA, deficiencies in the complement genes and the low-affinity variants of Fcgamma-receptors. In mouse models of SLE at least 13 loci have been identified, including the MHC, linked to lupus-related phenotypes such as nephritis and production of autoantibodies. Recently, linkage studies have been performed in human SLE; one investigating a candidate region based on synteny to a murine susceptibility locus and four genome-wide linkage studies in various populations. Linkage was demonstrated to several chromosomal regions, some of which are syntenic to murine lupus susceptibility loci. Interestingly, many of the identified chromosomal regions co-localise with loci implicated in other autoimmune diseases.
Lindqvist
A K
AK
Department of Genetics and Pathology, Section for Medical Genetics, Rudbeck Laboratories, Uppsala University, Uppsala, Sweden.
Alarcón-Riquelme
M E
ME
D000483:Alleles; D000818:Animals; D001327:Autoimmune Diseases / Q000208:ethnology / Q000235:genetics*; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000235:genetics; D015934:Complement C4a / Q000172:deficiency; D004195:Disease Models, Animal; D004200:Diseases in Twins / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D053222:Fas Ligand Protein; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics; D008285:Major Histocompatibility Complex / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D051379:Mice; D019463:Mice, Inbred MRL lpr; D017452:Receptors, IgG / Q000235:genetics; D013045:Species Specificity; D019014:fas Receptor / Q000235:genetics
C505661:FASLG protein, human; D053222:Fas Ligand Protein; C505658:Fasl protein, mouse; D006680:HLA Antigens; D008562:Membrane Glycoproteins; D017452:Receptors, IgG; D019014:fas Receptor; D015934:Complement C4a