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Common Genetic Pathways Implicated RA and SLE Rheumatoid arthritis and lupus are distinct conditions that present in unique ways, but they do share various genetic risk factors. A recent study revealed a new risk locus for both diseases. Previously, the genetic overlap between the two hadn’t been thoroughly examined. But, a study published in the May Annals of Rheumatic Diseasesidentified additional risk loci that are shared between rheumatoid arthritis and lupus. Using genome-wide association studies, the study, “A combined large-scaled meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus,” revealed the genetic variant rs9603612 is located near the COG6 (component of oligomeric Golgi complex6) gene. COG6 is located on chromosome 13q14.11, and it’s crucial to proper protein sorting and glycosylation. However, its role in immune-mediated disorders remains unknown. This study is the first comprehensive, large-scale analysis that looks into the genetic overlap between both disorders. Small sample sizes has been a limiting factor to-date. “Our results highlight the existence of a relevant genetic correlation between both diseases, as well as the influence of common molecular mechanisms in their pathophysiology,” the authors wrote. “Since common genetic pathways are implicated in rheumatoid arthritis and lupus, a reclassification of patients from a genetic point of view will lead to more specific and effective therapeutic procedures.” Overall, researchers included 17,552 patients with rheumatoid arthritis, 4,194 patients with lupus, and 46,907 control patients. Data came from Sweden, the United Kingdom, Germany, Italy, Spain, The Netherlands, and the United States. Through silico expression quantitative trait locus analysis, researchers learned the associated polymorphism acts like a regulator variant that influences COG6 expression. In particular, rs9603612 impacts the transcription factor binding and is linked to gene target expression, most likely regulating COG6 expression in monocytes. According to investigators, the protein-protein interaction and gene ontology enrichment analyses pointed to an overlap with specific biological processes. Results pointed specifically to the type I interferon signaling pathway. Additionally, the genetic correlation and polygenic risk score analyses showed cross-phenotype associations between rheumatoid arthritis and lupus. Bivariate analysis revealed a significant genetic correlation between rheumatoid arthritis and lupus. Polygenic risk score analysis showed significant differences between the case groups and controls and that lupus cases had a significant enrichment of rheumatoid arthritis-risk alleles. The findings, they said, point to rs9603612 being a good candidate for being the casual variant involved in the genetic predisposition of autoimmune disorders. Measure Measure Related Notes Laboratory Evaluation of Rheumatic Diseases Laboratory Evaluation of Rheumatic Diseases Marina Magrey Abby Abelson Published: August 2010 The diagnosis of rheumatologic diseases is based on clinical information, blood and imaging tests, and in ... A 'sneaky' disease that affects mostly older women - Business & Innovation - Jerusalem Post A 'sneaky' disease that affects mostly older women Sjogren’s syndrome affects at least 80,000 Israelis, but is under-diagnosed and gets too little attention in medical schools and from drug companies... Systemic lupus erythematosus. SLE. DermNet NZ Systemic lupus erythematosus. SLE What is systemic lupus erythematosus? Lupus erythematosus (LE) is a group of diverse persistent autoimmune inflammatory diseases. Systemic lupus erythematosus (SLE)...