title: Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Joo Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Hyun Jin
authors.initials: HJ
authors.lastname: Choi
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Kang
authors.forename: Ho Jun
authors.initials: HJ
authors.lastname: Chin
authors.forename: Hyung Jin
authors.initials: HJ
authors.lastname: Yoon
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Suhnggwon
authors.initials: S
authors.lastname: Kim
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001794:Blood Pressure / Q000235:genetics; D003404:Creatinine / Q000097:blood; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D033461:Hyperuricemia / Q000097:blood / Q000208:ethnology / Q000235:genetics; D007674:Kidney Diseases / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D012737:Sex Factors; D014527:Uric Acid / Q000097:blood*
chemical_list: D051246:Glucose Transport Proteins, Facilitative; C449579:SLC2A12 protein, human; D014527:Uric Acid; D003404:Creatinine