Polymorphisms in the presumptive promoter region of the SLC2A9 gene are associated with gout in a Chinese male population.

ABSTRACT:

Background

Glucose transporter 9 (GLUT9) is a high-capacity/low-affinity urate transporter. To date, several recent genome-wide association studies (GWAS) and follow-up studies have identified genetic variants of SLC2A9 associated with urate concentrations and susceptibility to gout. We therefore investigated associations between gout and polymorphisms and haplotypes in the presumptive promoter region of GLUT9 in Chinese males.

Methodology/principal findings

The approximately 2000 bp presumptive promoter region upstream of the start site of exon 1 of GLUT9 was sequenced and subjected to genetic analysis. A genotype-phenotype correlation was performed and polymorphisms-induced changes in transcription factor binding sites were predicted. Of 21 SNPs identified in GLUT9, five h

SUBMITTER: Li C 

PROVIDER: S-EPMC3290627 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature