A catalog of genetic loci associated with kidney function from analyses of a million individuals
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F19%3AN0000055" target="_blank" >RIV/00064190:_____/19:N0000055 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10407623
Result on the web
<a href="http://dx.doi.org/10.1038/s41588-019-0407-x" target="_blank" >http://dx.doi.org/10.1038/s41588-019-0407-x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41588-019-0407-x" target="_blank" >10.1038/s41588-019-0407-x</a>
Alternative languages
Result language
angličtina
Original language name
A catalog of genetic loci associated with kidney function from analyses of a million individuals
Original language description
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
NATURE GENETICS
ISSN
1061-4036
e-ISSN
1546-1718
Volume of the periodical
51
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
42
Pages from-to
957-1000
UT code for WoS article
000469996900008
EID of the result in the Scopus database
2-s2.0-85066607502