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Background  Gout is a common disease resulting from hyperuricemia which causes acute arthritis. A recent genome-wide association study (GWAS) of gout identified three new loci for gout in Han Chinese: regulatory factor X3 ( RFX3 ), potassium voltage-gated channel subfamily Q member 1 ( KCNQ1 ), and breast carcinoma amplified sequence 3 ( BCAS3 ). The lack of any replication studies of these three loci using other population groups prompted us to perform a replication study with Japanese clinically defined gout cases and controls.    Methods  We genotyped the variants of  RFX3  (rs12236871),  KCNQ1  (rs179785) and  BCAS3  (rs11653176) in 723 Japanese clinically defined gout cases and 913 controls by TaqMan method. rs179785 of  KCNQ1  is also evaluated by direct sequencing because of difficulties of its genotyping by TaqMan method.    Results  Although the variants of  RFX3  and  BCAS3  were clearly genotyped by TaqMan method, rs179785 of  KCNQ1  was not, because rs179785 (A/G) of  KCNQ1  is located at the last nucleotide (“A”) of the 12-bp deletion variant (rs200562977) of  KCNQ1 . Therefore, rs179785 and rs200562977 of  KCNQ1  were genotyped by direct sequencing in all samples. Moreover, by direct sequencing with the same primers, we were able to evaluate the genotypes of rs179784 of  KCNQ1  which shows strong linkage disequilibrium with rs179785 ( D’  = 1.0 and  r   2   = 0.99). rs11653176, a common variant of  BCAS3 , showed a significant association with gout ( P  = 1.66 × 10 − 3 ; odds ratio [OR] = 0.80); the direction of effect was the same as that seen in the previous Han Chinese GWAS. Two variants of  KCNQ1  (rs179785 and rs179784) had a nominally significant association ( P  = 0.043 and 0.044; OR = 0.85 and 0.86, respectively), but did not pass the significance threshold for multiple hypothesis testing using the Bonferroni correction. On the other hand, rs200562977 of  KCNQ1  and rs12236871 of  RFX3  did not show any significant association with gout.    Conclusion  BCAS3 is a coactivator of estrogen receptor alpha, and the influence of estrogen to serum uric acid level is well known. Our present replication study, as did the previous gout GWAS, demonstrated the common variant of  BCAS3  to be associated with gout susceptibility.

Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese