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Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects

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dc.contributor.authorLee, Joo Hoon-
dc.contributor.authorChoi, Hyun Jin-
dc.contributor.authorLee, Beom Hee-
dc.contributor.authorKang, Hee Kyung-
dc.contributor.authorChin, Ho Jun-
dc.contributor.authorYoon, Hyung Jin-
dc.contributor.authorHa, Il Soo-
dc.contributor.authorKim, Suhnggwon-
dc.contributor.authorChoi, Yong-
dc.contributor.authorCheong, Hae Il-
dc.date.accessioned2010-07-01T05:57:11Z-
dc.date.available2010-07-01T05:57:11Z-
dc.date.issued2008-11-21-
dc.identifier.citationNephrology (Carlton). 2008; 13(8): 661-666en
dc.identifier.issn1440-1797 (Electronic)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19019168-
dc.identifier.urihttp://hdl.handle.net/10371/68142-
dc.description.abstractAIM: Mutations in the SLC22A12 gene, which encodes a uric acid transporter, URAT1, are associated with renal hypouricaemia. This study was designed to measure serum uric acid (Sua) levels and allele frequencies of two common mutations in SLC22A12, W258X and R90H, in healthy Korean subjects. METHODS: A total of 909 unrelated Korean adults (male : female, 1:1.23; mean age, 48.4 +/- 11.0 years) were recruited among those who had taken a routine health check-up in a health centre in 2003. None of them had hypertension, diabetes mellitus, kidney diseases or liver diseases. Genotyping for W258X and R90H was performed using the TaqMan method. RESULTS: The prevalences of hyperuricaemia (Sua levels, >416 micromol/L) and hypouricaemia (Sua levels, <178 micromol/L) were 4.6% and 3.3%, respectively. A marked male preponderance in the hyperuricaemic group was noted, and the men revealed higher Sua than the women. The Sua showed a positive correlation with serum creatinine level and blood pressure. In the hypouricaemic group, the allele frequencies of W258X and R90H were 11.7% and 6.7%, respectively, and the proportion of subjects with one or both of the mutant alleles was 33.3%. Hyperuricaemic subjects never had either mutation. CONCLUSION: The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles.en
dc.description.sponsorshipThis study was supported by a grant from the Seoul National
University Hospital (06-2008-192-9).
en
dc.language.isoenen
dc.publisherWiley-Blackwellen
dc.subjectAdulten
dc.subjectAsian Continental Ancestry Group/*geneticsen
dc.subjectBlood Pressure/geneticsen
dc.subjectCreatinine/blooden
dc.subjectFemaleen
dc.subjectGene Frequencyen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGlucose Transport Proteins, Facilitative/*genetics/metabolismen
dc.subjectHumansen
dc.subjectHyperuricemia/blood/ethnology/geneticsen
dc.subjectKidney Diseases/blood/ethnology/*geneticsen
dc.subjectKorea/epidemiologyen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subject*Mutationen
dc.subjectPhenotypeen
dc.subjectPrevalenceen
dc.subjectSex Factorsen
dc.subjectUric Acid/*blooden
dc.titlePrevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjectsen
dc.typeArticleen
dc.contributor.AlternativeAuthor이주훈-
dc.contributor.AlternativeAuthor최현진-
dc.contributor.AlternativeAuthor이범희-
dc.contributor.AlternativeAuthor강희경-
dc.contributor.AlternativeAuthor진호준-
dc.contributor.AlternativeAuthor윤형진-
dc.contributor.AlternativeAuthor하일수-
dc.contributor.AlternativeAuthor김성권-
dc.contributor.AlternativeAuthor최용-
dc.contributor.AlternativeAuthor정해일-
dc.identifier.doi10.1111/j.1440-1797.2008.01029.x-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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