Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F20%3A73602124" target="_blank" >RIV/61989592:15110/20:73602124 - isvavai.cz</a>
Result on the web
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442816/" target="_blank" >https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442816/</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s42003-020-01185-9" target="_blank" >10.1038/s42003-020-01185-9</a>

Result language
angličtina
Original language name
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis
Original language description
Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs. We present a GWAS of a Japanese cohort (700 sarcoidosis cases and 886 controls) with replication in independent samples from Japan (931 cases and 1,042 controls) and the Czech Republic (265 cases and 264 controls). We identified three loci outside the HLA complex, CCL24, STYXL1-SRRM3, and C1orf141-IL23R, which showed genome-wide significant associations (P < 5.0 × 10-8) with sarcoidosis; CCL24 and STYXL1-SRRM3 were novel. The disease-risk alleles in CCL24 and IL23R were associated with reduced CCL24 and IL23R expression, respectively. The disease-risk allele in STYXL1-SRRM3 was associated with elevated POR expression. These results suggest that genetic control of CCL24, POR, and IL23R expression contribute to the pathogenesis of sarcoidosis. We speculate that the CCL24 risk allele might be involved in a polarized Th1 response in sarcoidosis, and that POR and IL23R risk alleles may lead to diminished host defense against sarcoidosis pathogens.
Czech name
—
Czech description
—

Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
—
OECD FORD branch
10602 - Biology (theoretical, mathematical, thermal, cryobiology, biological rhythm), Evolutionary biology

Project
<a href="/en/project/NV18-05-00134" target="_blank" >NV18-05-00134: Immunogenetic molecular profile of sarcoidosis: significance for disease course prediction</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach

Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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