Systemic Lupus Erythematosus (SLE) is a systemic inflammatory autoimmune disease characterized by the production of auto-antibodies (such as anti-nuclear antibodies).
Patients may present with a diverse array of different clinical manifestations including skin, joint, hematologic, neurologic, renal and other organ involvement. SLE is predominantly a female disease, affecting females and males in a ratio of 9:1. Onset in women is usually between puberty and menopause, while onset outside this range is less common. The exact etiology of SLE is unknown, though it is thought to have a genetic component as well as environmental and hormonal components.
The genetic component of SLE is supported by twin and family studies. Population studies have revealed that susceptibility to SLE is associated with HLA DRB1*03:01. Individuals homozygous for DRB1*03:01 or compound heterozygous for DRB1*03:01 and DRB1*15:01 carry the highest risk.
Genetic testing for SLE has significant clinical relevance in supporting efforts to more fully characterize the etiology and pathway of development of SLE. This may lead to improved diagnostic and prognostic tools.
Kashi Clinical Laboratories utilizes a combination of PCR-SSO (polymerase chain reaction sequence specific oligonucleotide typing) and SBT (sequence based typing) for testing.
Kashi's in-house laboratory and experienced health professionals ensure that customer service is personal, timely, and tailored to every patient's needs.
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- Barcellos LF et al. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. PLoS Genet. 2009; 5:e1000696.
- Danchenko N et al. Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus. 2006; 15:308.
- Galeazzi M et al. Anti-ganglioside antibodies in a large cohort of European patients with systemic lupus erythematosus: clinical, serological, and HLA class II gene associations. European Concerted Action on the Immunogenetics of SLE. J Rheumatol. 2000; 27:135.
- International MHC and Autoimmunity Genetics Network, Rioux JD et al. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci U S A. 2009; 106:18680.