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논문 기본 정보

자료유형
학술저널
저자정보
손창남 (계명대학교) 방소영 (한양대학교) 김상현 (계명대학교) 성윤경 (한양대학교) 배상철 (한양대학교) 전재범 (한양대학교)
저널정보
대한의학회 Journal of Korean Medical Science Journal of Korean Medical Science Vol.32 No.9
발행연도
2017.1
수록면
1,451 - 1,459 (9page)

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초록· 키워드

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The purpose of the present study was to find novel loci associated with hyperuricemia using data from a genome-wide association study (GWAS) conducted on healthy Koreans. We conducted a GWAS using data from a community-based cohort study where 3,647 subjects aged 40–89 were recruited by the Korea National Institute of Health (KNIH). The community-based cohort consisted of subjects who did not suffer from any of 6 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 (serum uric acid [SUA] level was 7 mg/dL or higher) and 3,413 controls, were genotyped by Illumina HumanOmni1-Quad BeadChip GWAS array at KNIH. In the multivariate regression analysis of clinical variables, significant variables associated with hyperuricemia were male gender (odds ratio [OR], 5.526; P = 3.2 × 10−10), old age (OR, 1.017; P = 0.040), high body mass index (BMI) (OR, 1.147; P = 5.4 × 10−7), current alcohol intake (OR, 2.413; P = 4.7 × 10−7), and high creatinine (OR, 1.647; P = 1.6 × 10−13). We identified a hyperuricemia susceptible loci (rs2054576 in ABCG2, OR, 1.883; P = 4.7 × 10−8) that passed a genome-wide significance threshold, adjusted by clinical variables (male, age, BMI, current alcohol, and creatinine). It was first identified that rs2054576 in ABCG2 is associated with hyperuricemia. Our results should be validated through replication studies among other Korean subjects or various ethnic groups.

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