Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
Abstract
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exome sequencing association studies of serum urate and kidney function among ≤19,517 European ancestry and African-American individuals. We identify aggregate associations of low-frequency damaging variants in the urate transporters SLC22A12...
Paper Details
Title
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
Published Date
Oct 12, 2018
Journal
Volume
9
Issue
1
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