Journal of Atherosclerosis and Thrombosis
Online ISSN : 1880-3873
Print ISSN : 1340-3478
ISSN-L : 1340-3478
Original Article
Genetic Impact on Uric Acid Concentration and Hyperuricemia in the Japanese Population
Fumihiko TakeuchiKen YamamotoMasato IsonoTomohiro KatsuyaKoichi AkiyamaKeizo OhnakaHiromi RakugiYukio YamoriToshio OgiharaRyoichi TakayanagiNorihiro Kato
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2013 Volume 20 Issue 4 Pages 351-367


Aim: Using general Japanese populations, we performed a replication study of genetic loci previously identified in European-descent populations as being associated with uric acid and gout. The relative contribution of non-genetic and genetic factors to the variances in serum uric acid concentration was then evaluated.
Methods: Seven single nucleotide polymorphisms (SNPs) were genotyped from 7 candidate loci robustly confirmed in Europeans. Genotyping was performed in up to 17,226 individuals, from which 237 hyperuricemia cases and 3,218 controls were chosen for a case-control study. For 6 SNPs showing a replication of uric acid association in 17,076 general population samples, we further tested the associations with other metabolic traits (n≤5,745) and with type 2 diabetes (931 cases and 1404 controls) and coronary artery disease (806 cases and 1337 controls).
Results: Significant uric acid associations (one-tailed p<0.05) were replicated for 6 loci in Japanese. The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10−50) and ABCG2 rs2231142 for hyperuricemia (p3.6×10−10). The combined genetic effect could explain some proportion of inter-individual variation in uric acid (R2=0.03) and was more or less comparable to the effect of well-recognized risk factors −BMI (R2=0.04) and alcohol intake (R2=0.01). The tested SNPs were not significantly associated with cardiovascular risk traits except for GCKR rs780094.
Conclusion: Our results confirm that 6 common uric acid variant loci are reproducible in Japanese. Further investigation is warranted to efficiently use the knowledge about genetic factors in combination with modifiable risk factors when we decide an individual’s treatment strategy for hyperuricemia.

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この記事はクリエイティブ・コモンズ [表示 - 非営利 - 継承 4.0 国際]ライセンスの下に提供されています。
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