Gout is a common disease with a genetic predisposition.1 The last years, a number of studies were conducted in order to determine the genetic causes of gout. Several polymorphisms (the occurrence of more than one form or morph) were identified as associated with elevated serum urate levels and gout. The identification of these polymorphisms was done by genome-wide association studies which are a research technique to identify DNA polymorphisms distributed across different large populations. Using genome-wide association studies (GWAS) researchers managed to identify several DNA loci associated with serum urate concentration, and some of them linked to gout in several populations. The locus most strongly linked to gout corresponds to the glucose transporter 9 (GLUT9) or solute carrier 2A9 (SLC2A9). Some variants of SLC2A9 are linked to a reduced risk of gout.
In contrast to SLC2A9 some other loci are linked to an increased risk of gout. One of them corresponds to the gene encoding the urate transporter 1, URAT1 or SL22A12. An additional locus linked to increased risk of gout encodes the renal sodium phosphate transport protein 1 NPT1 or SL17A1, which is localized at the apical membrane of renal proximal tubules.
1)Adv Chronic Kidney Dis. 2006 Apr;13(2):124-30. Genetic factors associated with gout and hyperuricemia. Bleyer AJ1, Hart TC.
2) F1000 Biol Rep. 2011;3:23. doi: 10.3410/B3-23. Epub 2011 Nov 1. Gout, genetics and ABC transporters. Basseville A1, Bates SE.
4) Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5223-8. doi: 10.1073/pnas.1214530110. Epub 2013 Mar 14. Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules. Woodward OM1, Tukaye DN, Cui J, Greenwell P, Constantoulakis LM, Parker BS, Rao A, Köttgen M, Maloney PC, Guggino WB.