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. Author manuscript; available in PMC: 2013 May 6.
Published in final edited form as: Nat Rev Rheumatol. 2012 Sep 4;8(10):610–621. doi: 10.1038/nrrheum.2012.144

Table 4.

Genetic variants potentially associated with serum uric acid levels and gout

Variant Phenotype Potential functional mechanism Populations
ADRB3 (chromosome 8)
Trp64Arg SUA Might cause reduced lipolysis and increased adipose tissue that could result in insulin resistance Korean,88 Spanish,87 Italian,95 Japanese,89 Chinese95
rs4994 Gout Unknown Chinese94
MTHFR (chromosome 1)
Cys677Thr SUA Might cause increased de novo synthesis of purines Japanese,90,92 Korean,91 Iranian,118 Brazilian93
PRKG2 (chromosome 4)
rs10033237 Gout Might cause increased renin activity Taiwanese96
rs7688672 Gout Might cause increased renin activity Taiwanese96
rs6837293 Gout Might cause increased renin activity Taiwanese96
SGK1-SLC2A12 Locus (chromosome 6)
rs9321453 SUA Unknown European ancestry, African American72
ALDH16A1 (chromosome 19)
Cg1580C>G SUA, gout Might be involved in purine metabolism Icelandic13
Chr 1-centromere (chromosome 1)
Chr1_142697422 SUA, gout Unknown Icelandic13
TGFB1 (chromosome 19)
869T/C Tophi formation Might regulate local inflammatory responses and/or tophi formation Taiwanese97

Abbreviation: SUA, serum uric acid.