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Urate transporter 1 ( URAT1/SLC22A12 ), a urate transporter gene, is a causative gene for renal hypouricemia type 1. Among several reported nonsynonymous  URAT1  variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. However, no case-control study has evaluated the relationship between gout and these two variants. Additionally, the effect size of these two variants on serum uric acid (SUA) levels remains to be clarified. Here, 1,993 primary gout patients and 4,902 health examination participants (3,305 males and 1,597 females) were genotyped with R90H and W258X. These  URAT1  variants were not observed in any gout cases, while 174 subjects had the  URAT1  variant in 2,499 health examination participants, respectively ( P  = 8.3 × 10 −46 ). Moreover, in 4,902 health examination participants, the  URAT1  nonfunctional variants significantly reduce the risk of hyperuricemia ( P  = 6.7 × 10 −19 ; risk ratio = 0.036 in males). Males, having 1 or 2 nonfunctional variants of  URAT1 , show a marked decrease of 2.19 or 5.42 mg/dl SUA, respectively. Similarly, females, having 1 or 2 nonfunctional variants, also evidence a decrease of 1.08 or 3.89 mg/dl SUA, respectively. We show that  URAT1  nonfunctional variants are protective genetic factors for gout/hyperuricemia, and also demonstrated the sex-dependent effect size of these  URAT1  variants on SUA ( P  for interaction = 1.5 × 10 −12 ).

The effects of URAT1/SLC22A12 nonfunctional variants,R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression