Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate

Nik Cummings, Thomas D. Dyer, Navaratnam Kotea, Sudhir Kowlessur, Pierrot Chitson, Paul Zimmet, John Blangero, Jeremy B.M. Jowett

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Elevated serum urate levels lead to gout and are associated with hypertension, metabolic syndrome, type 2 diabetes and cardiovascular diseases. The purpose of this study was to identify evidence for genetic linkage with serum urate and to determine whether variation within positional candidate genes is associated with serum urate levels in a non-European population. Genetic linkage analysis and single nucleotide polymorphism (SNP) genotyping was performed in a large family pedigree cohort from Mauritius. We assessed associations between serum urate levels and 97 SNPs in a positional candidate gene, SLC2A9. A genome-wide scan identified a new region with evidence for linkage for serum urate at 4p15.3. SNP genotyping identified significant association between six SNP variants in SLC2A9 and serum urate levels. Allelic and gender-based effects were noted for several SNPs. Significant correlations were also observed between serum urate levels and individual components of metabolic syndrome. Our study results implicate genetic variation in SLC2A9 in influencing levels of serum urate over a broad range of values in a large Mauritian family cohort.

Original languageEnglish (US)
Pages (from-to)1243-1247
Number of pages5
JournalEuropean Journal of Human Genetics
Issue number11
StatePublished - Nov 2010
Externally publishedYes


  • genotype
  • quantitative trait loci
  • serum urate

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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