All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FC - Pneumology

  • OECD FORD branch

Result continuities

  • Project

  • 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

  • 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