Purpose: Gout is a common inflammatory arthritis in humans and has a strong genetic predisposition. Copy number variations (CNVs) have been recognized as a predominant source of genetic variation among human phenotypes and affect gene function by four major molecular mechanisms. However, it remains unclear whether CNV is associated with gout.
Findings: Many CNVs have been shown in association with complex diseases, especially in rheumatic disorders. For example, Fc fragment of IgG low affinity IIIb receptor (FCGR3B) contributes to rheumatoid arthritis (RA) and CC chemokine ligand 3 like-1 (CCL3L1) is associated with systemic lupus erythematosus (SLE). Some originally reported CNVs of the same gene play an important role in multiple rheumatic diseases, suggesting a possible common pathogenesis among rheumatic diseases.
Conclusion: Based on those findings, CNVs may be a new genetic variant associated with gout and provide potential insight to reveal its complex pathogenesis. As CNVs are applied to gout studies in the future, much more CNVs will be found to explain the new and complementary genetic information of gout. In addition, CNVs associated with the development of gout support potential denotation for prevention, prediction and treatment of gout.
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