Journal article
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
- Abstract:
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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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(Version of record, pdf, 1.4MB)
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- Publisher copy:
- 10.1038/s41467-018-06620-4
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Authors
Funding
American Heart SDG
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German Research Foundation
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Leenaards Foundation
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Bibliographic Details
- Publisher:
- Nature Publishing Group Publisher's website
- Journal:
- Nature Communications Journal website
- Volume:
- 9
- Issue:
- 1
- Pages:
- 4228
- Publication date:
- 2018-10-12
- Acceptance date:
- 2018-09-13
- DOI:
- EISSN:
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2041-1723
- Pmid:
-
30315176
- Source identifiers:
-
929760
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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pubs:929760
- UUID:
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uuid:ccaa465e-0214-401b-b09b-8bf6350b1ba1
- Local pid:
- pubs:929760
- Deposit date:
- 2018-11-21
Terms of use
- Copyright holder:
- Tin et al
- Copyright date:
- 2018
- Notes:
- © The Author(s) 2018. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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