Heritability of crystal related arthropathies

Abstract

The most common types of crystal arthropathies are gout and calcium pyrophosphate deposition (CPPD) disease. Serum urate levels are influenced by a combination of genetic factors and the environment. There are studies estimating the heritability of urate ranging from 45% to 73%. Approximately 3% of the variance in serum urate level is explained by the locus SLC2A9. Among the Caucasian population, 10% of all gout cases may be largely attributable to locus ABCG2. Loss or reduction function of ABCG2 halves the kidney’s ability to secrete uric acid. Gain-of-function mutations in ENPP1 gene may be involved in the development of CPPD disease. Loss-of-function mutations in ANKH leads to excess calcium hydroxyapatite formation. Conclusions: There is reason to believe that studying susceptibility genes for the crystal arthropathies will contribute to our understanding of the complexity of inheritance of these disorders. At present many other genes involved in crystal arthropathies are being investigated, and we hope that soon, novel therapeutic targets will be found.

Keywords

• genetics
• uric acid
• gout
• cppd
• chondrocalcinosis