Korean J Intern Med.  2015 Nov;30(6):913-920. 10.3904/kjim.2015.30.6.913.

Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population

• Kim YS
• Kim Y
• Park G
• Kim SK
• Choe JY
• Park BL
• Kim HS

• KMID: 2381597
• DOI: http://doi.org/10.3904/kjim.2015.30.6.913

Abstract

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 (chi2 = 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.

Keyword

Gout; ABCG2; SLC2A9

MeSH Terms

ATP-Binding Cassette Transporters/*genetics
Arthritis, Gouty/blood/diagnosis/ethnology/*genetics
Asian Continental Ancestry Group/genetics
Biomarkers/blood
Case-Control Studies
Chi-Square Distribution
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Glucose Transport Proteins, Facilitative/*genetics
Haplotypes
Humans
Logistic Models
Neoplasm Proteins/*genetics
Odds Ratio
Phenotype
*Polymorphism, Single Nucleotide
Republic of Korea
Risk Factors
Uric Acid/blood
Biomarkers
Glucose Transport Proteins, Facilitative
Neoplasm Proteins
SLC2A9 protein, human
Uric Acid