Session Type: ACR Poster Session A
Session Time: 9:00AM-11:00AM
Background/Purpose: Hyperuricemia is known as a risk factor of diverse diseases such as gout, hypertension, metabolic syndrome, diabetes mellitus, and cardiovascular diseases. Recent genome-wide association studies (GWASs) have identified that 28 genetic loci are associated with hyperuricemia among individuals of European ancestry. For example, SLC2A9, ABCG2 and SLC22A12 modulate serum uric acid levels (SUAs) in the renal urate-transport system. The purpose of the present study is to find novel loci associated with hyperuricemia using data from a GWAS conducted on healthy Koreans.
Methods: We conducted a GWAS using data from a community-based cohort study where 3,647 subjects aged 40 – 69 were recruited by the Korea National Institute of Health (KNIH). The community-based cohort consisted of subjects who did not suffer from any of six major diseases (hypertension, hyperlipidemia, diabetes, heart diseases, brain diseases, and cancers). Epidemiologic information includes 249 traits such as epidemiological surveys, physical examinations, and laboratory tests. A total of 3,647 participants, including 234 hyperuricemia cases (SUA level was 7 or higher) and 3,413 controls, were genotyped by Illumina HumanOmni1-Quad BeadChip GWAS array at KNIH.
Results: In the multivariate regression analysis of clinical variables, significant variables were male gender (P = 5.0 x 10-10), body mass index (BMI) (P = 1.5 x 10-7), current alcohol (P = 7.8 x 10-7), fasting plasma glucose (FPG) (P = 0.035), and creatinine (P = 2.7 x 10-14). We identified new hyperuricemia susceptible loci (rs2054576 in ABCG2, P = 4.7 x 10-8) that passed a genome-wide significance threshold, adjusted by clinical variables (male, BMI, current alcohol, FPG, and creatinine).
Conclusion: It was first identified that rs2054576 in ABCG2 is associated with hyperuricemia. ABCG2 is a transporter that is located in the apical border membrane of renal proximal tubule cells and plays a role in uric acid secretion. Our results should be validated through replication studies among other Korean subjects or various ethnic groups.
To cite this abstract in AMA style:Jun JB, Jeong HJ, Son CN, Kim JM, Kim SH, Bang SY, Bae SC. The ABCG2 polymorphism Is Associated with Hyperuricemia in a Community-Based Korean Cohort [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/the-abcg2-polymorphism-is-associated-with-hyperuricemia-in-a-community-based-korean-cohort/. Accessed September 19, 2019.
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