The Genetics of Systemic Lupus Erythematosus

Abstract

Lindqvist AKB, Alarcón-Riquelme ME. The Genetics of Systemic Lupus Erythematosus. Scand J Immunol 1999;50:562-571. 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 Fc␥-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.

Lupus Nephritis Susceptibility Loci in Women with Systemic Lupus Erythematosus

“…Although some studies suggested an association with HLA-DR2 and HLA-DR3, the two best established MHC susceptibility loci for SLE, not all studies are in agreement regarding the role of the MHC in LN. 32,33 In our study that contrasts patients with LN with patients with lupus without nephritis, modest associations were observed with both of these MHC class II alleles (as assessed by proxies). Analyses conditioned on rs9271366 and rs2187668 indicate that loci outside of MHC class II genes may also contribute to LN risk, as seen in other studies of SLE.…”

Linkage analysis of human systemic lupus erythematosus-related traits: A principal component approach

“…More data about SLE genetics are beginning to emerge from candidate gene and linkage studies (9,36). We found evidence of multivariate linkage and linkage to malar rash, a hallmark feature of SLE, to chromosome 7p13.…”

Relation between HLA Typing and Clinical Presentations in Systemic Lupus Erythematosus Patients in Al-Qassim Region , Saudi Arabia

“…Diverse genetic and environmental factors are implicated in its etiology. (1)(2)(3)(4) The association between SLE and polymorphisms at several loci, including the major histocompatibility complex (MHC), which encodes human leukocyte antigen (HLA), complement proteins, immunoglobulin receptors, cytokines, and other unmapped genes, has been stated by several genetic studies. (5,6) The genetic role of MHC is well studied, and association (7) as well linkage studies (8) undoubtedly demonstrated the presence of SLE susceptibility factors in the MHC region.…”