Unravelling the genetic basis of sarcoidosis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F22%3A73612548" target="_blank" >RIV/61989592:15110/22:73612548 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.ers-education.org/lr/show-details/?idP=254934" target="_blank" >https://www.ers-education.org/lr/show-details/?idP=254934</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1183/2312508X.10031320" target="_blank" >10.1183/2312508X.10031320</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Unravelling the genetic basis of sarcoidosis

Popis výsledku v původním jazyce

Sarcoidosis is a heterogeneous disease with significant heritability and a significant proportion of familial disease, providing convincing evidence for a role of genetic factors in disease development. Numerous genes have been shown to be involved in the risk for disease development and its phenotypic manifestations. So far, strong genetic associations have been detected only for specific ethnic and phenotypic populations and involve the HLA class II-encoding peptides that are important for antigen recognition, and may thus be disease trigger related. Many of the genomic regions and genes that have been shown to associate with sarcoidosis significantly overlap with those identified for a wide spectrum of immune-mediated diseases, while only a few are specific for sarcoidosis or a phenotype of the disease. Although recent whole-exome sequencing approaches have not yet provided easily interpretable results, such unbiased deep-sequencing methods hold promise for further unravelling of the immunopathogenic pathways underlying the different disease entities in sarcoidosis.

Název v anglickém jazyce

Unravelling the genetic basis of sarcoidosis

Popis výsledku anglicky

Sarcoidosis is a heterogeneous disease with significant heritability and a significant proportion of familial disease, providing convincing evidence for a role of genetic factors in disease development. Numerous genes have been shown to be involved in the risk for disease development and its phenotypic manifestations. So far, strong genetic associations have been detected only for specific ethnic and phenotypic populations and involve the HLA class II-encoding peptides that are important for antigen recognition, and may thus be disease trigger related. Many of the genomic regions and genes that have been shown to associate with sarcoidosis significantly overlap with those identified for a wide spectrum of immune-mediated diseases, while only a few are specific for sarcoidosis or a phenotype of the disease. Although recent whole-exome sequencing approaches have not yet provided easily interpretable results, such unbiased deep-sequencing methods hold promise for further unravelling of the immunopathogenic pathways underlying the different disease entities in sarcoidosis.

Druh

C - Kapitola v odborné knize

CEP obor

—

OECD FORD obor

30203 - Respiratory systems

Projekt

<a href="/cs/project/NV18-05-00134" target="_blank" >NV18-05-00134: Imunogenetický molekulární profil sarkoidózy: význam pro předpověď vývoje nemoci</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název knihy nebo sborníku

Sarcoidosis (ERS Monograph)

ISBN

978-1-84984-145-0

Počet stran výsledku

16

Strana od-do

41-56

Počet stran knihy

349

Název nakladatele

European Respiratory Society

Místo vydání

Sheffield

Kód UT WoS kapitoly

—