Background/Aims:Gout is a common inf lammatory arthritis triggered by the crystallization of uric acid in the joints. Serum uric acid levels are highly heritable, suggesting a strong genetic component. Independent studies to confirm the genetic associations with gout in various ethnic populations are warranted. We investigated the association of polymorphisms in the ABCG2 and SLC2A9 genes with gout in Korean patients and healthy individuals.Methods:We consecutively enrolled 109 patients with gout and 102 healthy controls. The diagnosis of gout was based on the preliminary criteria of the America College of Rheumatology. Genomic DNA was extracted from whole blood samples. We identified single nucleotide polymorphism (SNP) changes in the ABCG2 and SLC2A9 genes using a direct sequencing technique. rs2231142 in ABCG2 and rs6449213 and rs16890979 in SLC2A9 and nearby regions were amplified by polymerase chain reaction.Results:Patients with gout had significantly higher A/A genotype (29.3% vs. 4.9%, respectively) and A allele (52.8% vs. 26.5%, respectively) frequencies of rs2231142 in ABCG2 than did controls (χ2 = 29.42, p < 0.001; odds ratio, 3.32; 95% confidence interval, 2.11 to 5.20). We found novel polymorphisms (c.881A>G and c.1002+78G>A) in the SLC2A9 gene. The univariate logistic regression analysis revealed that the c.881A>G and c.1002+78G>A SNPs were significantly higher in patients than in controls.Conclusions:We demonstrated a significant association between rs2231142 in the ABCG2 gene and gout and identified novel SNPs, c.881A>G and c.1002+78G>A, in the SLC2A9 gene that may be associated with gout in a Korean population.

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Antiphospholipid syndrome (APS) is characterized by vascular thrombosis or recurrent fetal loss in the presence of antiphospholipid antibodies. APS has various manifestations because it can involve any vessel in most organs and tissues. There are a few reports of acute pancreatitis or renal thrombotic microangiopathy accompanying APS, but none on concurrent acute pancreatitis and renal thrombotic microangiopathy in Korea. The clinical consequences can be devastating, so a high index of suspicion is necessary for early diagnosis and treatment. We report an unusual case of APS-associated recurrent pancreatitis and renal thrombotic microangiopathy. A 33-year-old woman was admitted for severe epigastric pain attributed to acute pancreatitis. She subsequently developed an acute kidney injury and the histology revealed thrombotic microangiopathy. Four weeks later, she was readmitted with recurrent pancreatitis. After treatment with anticoagulation and low-dose steroid, her abdominal pain subsided and the amylase and lipase levels normalized.

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