Gout based on hyperuricemia is a common disease with a genetic predisposition, which causes acute arthritis. The ABCG2/BCRP gene, located in a gout-susceptibility locus on chromosome 4q, has been identified by recent genome-wide association studies of serum uric acid concentrations and gout. Urate transport assays demonstrated that ABCG2 is a high-capacity urate secretion transporter. Sequencing of the ABCG2 gene in 90 hyperuricemia patients revealed several nonfunctional ABCG2 mutations, including Q126X. Quantitative trait locus analysis of 739 individuals showed that a common dysfunctional variant of ABCG2, Q141K, increases serum uric acid. Q126X is assigned to the different disease haplotype from Q141K and increases gout risk, conferring an odds ratio of 5.97. Furthermore, 10% of gout patients (16 out of 159 cases) had genotype combinations resulting in more than 75% reduction of ABCG2 function (odds ratio, 25.8). Our findings indicate that nonfunctional variants of ABCG2 essentially block gut and renal urate excretion and cause gout.

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diagnosed as gout and 1221 male control subjects without hyperuricemia or a history of gout by TaqMan method. As a result, the major allele (C), which reportedly increases SUA levels, had a higher frequency in the gout cases (58.8%) than in the controls (55.0%). A logistic regression analysis showed a significant association between rs889472 and gout (p = 0.029, odds ratio = 1.17; 95% confidence interval 1.02-1.34). C-MAF is reported as a pivotal transcriptional factor in the development and differentiation of renal proximal tubular cells. Because urate is mainly regulated in renal proximal tubular cells, c-MAF may have an important role in urate regulation in the kidney and influence not only SUA but also gout susceptibility. Our finding shows that rs889472 of c-MAF is associated with gout susceptibility.

We herein report the rare case of a patient who developed cerebellar infarction due to vertebral artery dissection, initially suspected as a perilymph fistula, immediately after a bout of sneezing. A 61-year-old man developed spontaneous vertigo and tinnitus immediately after a bout of sneezing. Initially there were no obvious findings on head CT, and he was referred to our department as a probable case of peripheral vestibular dysfunction. Since left hearing loss and rightward nystagmus were observed, we initially made the diagnosis of perilymph fistula. However, a repeat CT revealed cerebellar infarction of the region supplied by the posterior inferior cerebellar artery with vertebral artery dissection. This patient had complex mixed symptoms, including peripheral vestibular findings and central nervous system findings. We speculated that this patient might have had infarction of the posterior inferior cerebellar artery region, accompanied by decrease of the blood flow in the anterior inferior cerebellar artery, which caused hearing loss.

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