Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.

ABSTRACT:

Objective

Uric acid is the primary end product of purine metabolism. Increased serum uric acid levels have been associated with gouty arthritis as well as with a variety of cardiovascular-related phenotypes. This study was undertaken to investigate associations between uric acid levels and single-nucleotide polymorphisms (SNPs).

Methods

A 500,000-SNP genome-wide association study of serum uric acid levels was performed in a cohort of Old Order Amish from Lancaster County, Pennsylvania.

Results

The scan confirmed a previously identified region on chromosome 4 to be strongly associated with uric acid levels (P = 4.2 x 10(-11) for rs10489070). Followup genotyping revealed that a nonsynonymous coding SNP (Val253Ile; rs16890979) in GLUT9 was most strongly associated with u

SUBMITTER: McArdle PF 

PROVIDER: S-EPMC2779583 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature