A genome-wide association analysis reveals new pathogenic pathways in gout
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F24%3AN0000007" target="_blank" >RIV/00023728:_____/24:N0000007 - isvavai.cz</a>
Alternative codes found
RIV/00023728:_____/24:N0000045 RIV/00216208:11110/24:10492940 RIV/00064165:_____/24:10492940
Result on the web
<a href="https://doi.org/10.1038/s41588-024-01921-5" target="_blank" >https://doi.org/10.1038/s41588-024-01921-5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41588-024-01921-5" target="_blank" >10.1038/s41588-024-01921-5</a>
Alternative languages
Result language
angličtina
Original language name
A genome-wide association analysis reveals new pathogenic pathways in gout
Original language description
Gout is a chronic disease that is caused by an innate immune response to deposited monosodium urate crystals in the setting of hyperuricemia. Here, we provide insights into the molecular mechanism of the poorly understood inflammatory component of gout from a genome-wide association study (GWAS) of 2.6 million people, including 120,295 people with prevalent gout. We detected 377 loci and 410 genetically independent signals (149 previously unreported loci in urate and gout). An additional 65 loci with signals in urate (from a GWAS of 630,117 individuals) but not gout were identified. A prioritization scheme identified candidate genes in the inflammatory process of gout, including genes involved in epigenetic remodeling, cell osmolarity and regulation of NOD-like receptor protein 3 (NLRP3) inflammasome activity. Mendelian randomization analysis provided evidence for a causal role of clonal hematopoiesis of indeterminate potential in gout. Our study identifies candidate genes and molecular processes in the inflammatory pathogenesis of gout suitable for follow-up studies.
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
10603 - Genetics and heredity (medical genetics to be 3)
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature Genetic
ISSN
1061-4036
e-ISSN
1546-1718
Volume of the periodical
56
Issue of the periodical within the volume
11
Country of publishing house
US - UNITED STATES
Number of pages
15
Pages from-to
2392-2406
UT code for WoS article
001409740700001
EID of the result in the Scopus database
2-s2.0-85206813683