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Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects

Cited 24 time in Web of Science Cited 22 time in Scopus
Authors
Lee, Joo Hoon; Choi, Hyun Jin; Lee, Beom Hee; Kang, Hee Kyung; Chin, Ho Jun; Yoon, Hyung Jin; Ha, Il Soo; Kim, Suhnggwon; Choi, Yong; Cheong, Hae Il
Issue Date
2008-11-21
Publisher
Wiley-Blackwell
Citation
Nephrology (Carlton). 2008; 13(8): 661-666
Keywords
AdultAsian Continental Ancestry Group/*geneticsBlood Pressure/geneticsCreatinine/bloodFemaleGene FrequencyGenetic Predisposition to DiseaseGlucose Transport Proteins, Facilitative/*genetics/metabolismHumansHyperuricemia/blood/ethnology/geneticsKidney Diseases/blood/ethnology/*geneticsKorea/epidemiologyMaleMiddle Aged*MutationPhenotypePrevalenceSex FactorsUric Acid/*blood
Abstract
AIM: 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.
ISSN
1440-1797 (Electronic)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19019168

http://hdl.handle.net/10371/68142
DOI
https://doi.org/10.1111/j.1440-1797.2008.01029.x
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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