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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 (URAT1; p = 1.3 × 10-56) and SLC2A9 (p = 4.5 × 10...

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Publication status:
Published
Peer review status:
Peer reviewed

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Role:
Author
ORCID:
0000-0002-4207-5866
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Role:
Author
ORCID:
0000-0003-2651-8791
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Role:
Author
ORCID:
0000-0001-8509-148X
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Role:
Author
ORCID:
0000-0001-7062-8352
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Name:
National Institutes of Health
Grant:
R01DK114091
R01 DK114091
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Name:
Netherlands Organisation for Health Research and Development
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Name:
Swiss National Science Foundation
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Name:
Swiss Institute of Bioinformatics
Publisher:
Nature Publishing Group
Journal:
Nature Communications More from this journal
Volume:
9
Issue:
1
Pages:
4228
Publication date:
2018-10-12
Acceptance date:
2018-09-13
DOI:
EISSN:
2041-1723
Pmid:
30315176
Language:
English
Keywords:
Pubs id:
pubs:929760
UUID:
uuid:ccaa465e-0214-401b-b09b-8bf6350b1ba1
Local pid:
pubs:929760
Source identifiers:
929760
Deposit date:
2018-11-21

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