Session Information
Session Type: Abstract Submissions (ACR)
Background/Purpose:
The prevalence of hyperuricemia and gout in China increased markedly in the past decades. Genome-wide association studies in Caucasian population have identified multiple gene loci associated with hyperuricemia and gout, including single nucleotide polymorphism (SNP) of rs2231142 in the ABCG2 gene, which leads to an amino acid change from glutamine to lysine at position 141 of the membrane transporter. However, this association was not consistently observed in Asian population.
Methods:
A case-control study was carried out to investigate the association between locus ABCG2 rs2231142 polymorphism and hyperuricemia in a Chinese cohort of faculty and staff members at an academic health center in Beijing. Blood samples were drawn and stored during their annual health examination in 2008. Physical examination and biochemical assay were performed for all participants at that time. Hyperuricemia was defined as serum urate ≥7 mg/dl in men or ≥6 mg/dl in women. Each case of hyperuricemia with glomerular filtration rate ≥30ml/min/1.73m2 was matched with one or two controls that were randomly sampled from individuals with the same sex, age group, chronic kidney disease stage and body mass index classification as the case in the cohort. SNP rs2231142 was assayed for both cases and controls by amplification refractory mutation system polymerase chain reaction (ARMS-PCR) in 2013. Conditional logistic regression analysis was performed to study the association between SNP rs2231142 and hyperuricemia.
Results:
A total of 198 subjects and 370 controls were identified in the cohort. The overall A allele frequency of the ABCG2 gene was 30.81% in the cohort, but it was significantly higher in the cases than the controls (38.38% vs. 26.76%, p<0.01). Compared to individuals with genotype CC, the Odds Ratios (ORs) of hyperuricemia in individuals with A allele (genotype AA + CA), genotype CA and AA were 2.89 (95% CI 1.91-4.37, p<0.01), 2.84 (95% CI 1.86-4.32, p<0.01) and 3.30 (95% CI 1.60-6.81, p<0.01), respectively. After adjustment of hypertension, hyperglycemia and dyslipidemia, the ORs of A allele, genotype CA and AA were 2.99 (95% CI 1.94-4.62, p<0.01), 2.99 (95% CI 1.93-4.66, p<0.01) and 2.99 (95% CI 1.39-6.48, p<0.01), respectively. Subgroup analysis showed the ORs of A allele, genotype CA and AA were higher in males (3.83, 3.62, and 6.34, respectively) than those in females (2.30, 2.34, and 2.04, respectively), but the interaction of allele and gender was not significant with OR 1.66 (95% CI 0.71-3.87, p=0.23).
Conclusion:
ABCG2 SNP rs2231142 A allele is an independent risk factor of hyperuricemia in Chinese. The risk of hyperuricemia in individuals with A allele appears to be higher in males than that in females, but the interaction of allele and gender is not significant.
Disclosure:
B. Zhang,
None;
W. Fang,
None;
Y. Zhang,
None;
S. Liu,
None;
Y. Li,
None;
X. Zeng,
None.
« Back to 2013 ACR/ARHP Annual Meeting
ACR Meeting Abstracts - https://acrabstracts.org/abstract/the-association-between-single-nucleotide-polymorphism-abcg2-rs2231142-and-hyperuricemia-a-case-control-study/