title: Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population.
abstract: OBJECTIVE
  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 (χ(2) = 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.
authors.affiliation: Department of Internal Medicine, Chosun University School of Medicine, Gwangju, Korea.
authors.forename: Yun Sung
authors.initials: YS
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Soonchunhyang University Hospital, Seoul, Korea.
authors.forename: Yunsuek
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Department of Clinical Pathology, Chosun University School of Medicine, Gwangju, Korea.
authors.forename: Geon
authors.initials: G
authors.lastname: Park
authors.affiliation: Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.
authors.forename: Seong-Kyu
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.
authors.forename: Jung-Yoon
authors.initials: JY
authors.lastname: Choe
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, Korea.
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.affiliation: Department of Internal Medicine, Soonchunhyang University Hospital, Seoul, Korea.
authors.forename: Hyun Sook
authors.initials: HS
authors.lastname: Kim
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D015210:Arthritis, Gouty / Q000097:blood / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D009363:Neoplasm Proteins / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D012307:Risk Factors; D014527:Uric Acid / Q000097:blood
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters; D015415:Biomarkers; D051246:Glucose Transport Proteins, Facilitative; D009363:Neoplasm Proteins; C411811:SLC2A9 protein, human; D014527:Uric Acid
keywords: ABCG2; Gout; SLC2A9