In a first-of-its-kind genome-wide association study (GWAS), researchers have discovered two genes, RNF144B and ENPP1, that cause calcium pyrophosphate deposition (CPPD) disease in people of European and African descent.
Characterized by the deposition of CPP crystals in articular tissues, CPPD disease is a heterogeneous crystalline arthritis that can cause acute or chronic joint symptoms and is one of the most common forms of inflammatory arthritis in individuals over 60 years of age. In Europe and North America, the prevalence of imaging evidence of CPPD disease is estimated to be about 10% in middle-aged adults, depending on articular location, with prevalence increasing to approximately 30% in adults over 80 years of age. CPPD disease is also associated with cartilage degradation and osteoarthritis, although it remains unclear whether CPPD disease is a cause or consequence of these conditions.
The current research entailed a GWAS in which all genes in the human genome were simultaneously assessed for association with CPPD disease. The main finding was the identification of two genes, RNF144B and ENPP1, that cause CPPD disease. Importantly, the same genes were detected in both people of European ancestry and African ancestry. This discovery opens the door to the possibility of new drugs being developed for the treatment of CPPD disease.