The effect of polymorphism of uric acid transporters on uric acid transport.

The abnormal metabolism of uric acid results in many disease such as chronic kidney disease, hyperuricemia, nephrolithiasis, gout, hypertension, vascular disease and so on. Serum uric acid levels are maintained by the balance between production and elimination. There are many factors that maintain the balance of serum uric acid. One of them is transporters which are responsible for the debouchment of uric acid within blood. The transport and excretion of uric acid is a complicated procedure which is related with various transporters such as OAT1, OAT3, OAT4, URAT1, GLUT9, BCRP, MRP4, NPT1, NTP4, and so on. In recent years, a large number of genome-wide association studies have shown that the single nucleotide polymorphisms of uric acid transporters were closely related to serum uric acid level. What's more, some mutations on these gene locus may also break the balance of serum uric acid. Here, the polymorphisms of uric acid transporters closely related with the serum uric acid balance were reviewed and discussed because of their important significance in clinical therapy for a precision medicine. The mechanism of metabolic diseases with gene variation may provide new strategy for the design and development of innovative drug to treat diseases with uric acid metabolic disturbance.