Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

8 Oct 2018

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alcohol Consumption and Health Effects
Share to Gout, Hyperuricemia, Uric Acid
Share to Urinary and Genital Oncology Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30315176
DOI: 10.1038/s41467-018-06620-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levelsPMID 30315176Read ↗

Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.Semantic proximity Read ↗

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.Semantic proximity Read ↗

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate controlSemantic proximity Read ↗

Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout.Semantic proximity Read ↗

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.Semantic proximity Read ↗

The genetic basis of urate control and gout: Insights into molecular pathogenesis from follow-up study of genome-wide association study loci.Semantic proximity Read ↗

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levelsSemantic proximity Read ↗

Large-scale cross-ancestry genome-wide meta-analysis of serum urate.Semantic proximity Read ↗

A 'complexity' of urate transporters.Semantic proximity Read ↗

Identification of GLUT12/SLC2A12 as a urate transporter that regulates the blood urate level in hyperuricemia model miceSemantic proximity Read ↗

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.