Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F15%3A%230001041" target="_blank" >RIV/00064190:_____/15:#0001041 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/15:10301832 RIV/61989592:15110/15:33154234 RIV/00064165:_____/15:10301832
Result on the web
<a href="http://dx.doi.org/10.1164/rccm.201503-0418OC" target="_blank" >http://dx.doi.org/10.1164/rccm.201503-0418OC</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1164/rccm.201503-0418OC" target="_blank" >10.1164/rccm.201503-0418OC</a>
Alternative languages
Result language
angličtina
Original language name
Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk
Original language description
Rationale: Genetic variation plays a significant role in the etiology of sarcoidosis. However, only a small fraction of its heritability has been explained so far. Objectives: To define further genetic risk loci for sarcoidosis, we used the Immunochip for a candidate gene association study of immune-associated loci. Methods: Altogether the study population comprised over 19,000 individuals. In a two-stage design, 1,726 German sarcoidosis cases and 5,482 control subjects were genotyped for 128,705 single-nucleotide polymorphisms using the Mumina Immunochip for the screening step. The remaining 3,955 cases, 7,514 control subjects, and 684 parents of affected offspring were used for validation and replication of 44 candidate and two established risk single-nucleotide polymorphisms. Measurements and Main Results: Four novel susceptibility loci were identified with genome-wide significance in the European casecontrol populations, located on chromosomes 12q24.12 (rs653178; ATXN2/SH2B3), 5q33.3 (rs4921492; ILI2B), 4q24 (rs223498; MANBA/NFKB1), and 2q33.2 (rs6748088; FAIVI117B). We further defined three independent association signals in the HLA region with genome-wide significance, peaking in the BTNL2 promoter region (rs5007259), at HLA-B (rs4143332/HLA-B(star)0801) and at HLA-DPBI (rs9277542), and found another novel independent signal near IL23R (rs12069782) on chromosome 1p31.3.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FC - Pneumology
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
ISSN
1073-449X
e-ISSN
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Volume of the periodical
192
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
727-736
UT code for WoS article
000361420400015
EID of the result in the Scopus database
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