Genetic Differences Exist Between Skin and Systemic Disease in Lupus Patients

Researchers at the University at Buffalo have published an article entitled “Genome-wide transcriptional profiling data from skin of chronic cutaneous lupus erythematosus (CCLE) patients”, in the journal Data in Brief, concerning their findings on the genetic differences between lupus patients with skin involvement and those with systemic manifestations. These findings were initially reported on a study the authors published last year on the journal Genomics entitled “Differential gene expression analysis in CCLE lesions provides new insights regarding the genetics basis of skin vs. systemic disease”.

Lupus is a severe autoimmune disease in which the body’s own immune system overreacts and attacks healthy joints and organs through autoantibodies, resulting in inflammation, swelling, pain, disability and often in tissue destruction in multiple organs including the skin, musculoskeletal system, kidneys and central nervous system. When only the skin is involved in lupus cases, the condition is called cutaneous lupus erythematosus. Within this group, chronic cutaneous lupus erythematosus (CCLE) is characterized by skin lesions, from red scaly patches to painful subcutaneous nodules.

Patients with systemic and cutaneous manifestation of lupus are thought to share genetic background and biological pathways. In the study, researchers analyzed genomic differences between six lesional and four non-lesional skin samples from CCLE patients in order to better understand the genetic processes relevant to each disease form by using genome-wide microarray technology and pathway-based analyses.

Researchers found differentially expressed genes between lesional and non-lesional skin, including 13 skin-associated genetic “hot spots” that represent active chromosome regions. Interestingly, 17 of the differentially expressed genes in CCLE (eight within the “hot spots”) were found to correspond to regions previously reported to be associated with systemic lupus, including those linked to cell death (apoptosis) and interferon pathways. The team also found new genetic regions that had not been previously associated with lupus, suggesting that they may represent distinct susceptibility loci for CCLE.

The research team concluded that in terms of pathogenesis, cutaneous and systemic lupus diseases have overlapping genetic factors but also distinctive ones. The team believes that their findings may provide insight into the underlying mechanisms of lupus disease and skin specific manifestations.