HLA Polymorphisms in Sarcoidosis: Next-Generation HLA Typing in 212 Czech Patients

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F20%3A00073424" target="_blank" >RIV/65269705:_____/20:00073424 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.atsjournals.org/doi/abs/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A3112#aff1" target="_blank" >https://www.atsjournals.org/doi/abs/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A3112#aff1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A3112" target="_blank" >10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A3112</a>

Jazyk výsledku

angličtina

Název v původním jazyce

HLA Polymorphisms in Sarcoidosis: Next-Generation HLA Typing in 212 Czech Patients

Popis výsledku v původním jazyce

Rationale Sarcoidosis is the immune-mediated systemic disease with unknown aetiology. The significance of polymorphisms in HLA loci with sarcoidosis has not been yet investigated with the recent molecular techniques which enable detailed characterisation of HLA alleles. We have, therefore, used next generation sequencing (NGS) to describe the role of HLA variations in the origin and development of sarcoidosis and its presentation. Methods We enrolled 212 patients diagnosed by ATS/ERS/WASOG guidelines in Brno University Hospital. Chest X-ray (CXR) stages I/II/III/IV were 73/96/38/5; Lőfgren syndrome (LS) was diagnosed in 43 cases and 59 cases presented with extrapulmonary symptoms of sarcoidosis. We performed genotyping of 7 HLA loci (HLA-A, -B, -C, -DRB1, -DQA1, -DQB1, -DPB1) by Omixon HolotypeTM kit and Twin softwareTM. HLA allele frequency was compared with data from allelic frequency database and HLA polymorphism distribution in the same loci with the same resolution typing by NGS in 168 unrelated Czech subjects (Petrek M, Osoegawa K, Gangavarapu S, Kocourkova L, Creary LE, Vayntrub T, Fernandez-Vina MA. Determination of HLA haplotypes in the Czech population using NGS typing - a family study. HLA 2019;93: 343-4).

Název v anglickém jazyce

HLA Polymorphisms in Sarcoidosis: Next-Generation HLA Typing in 212 Czech Patients

Popis výsledku anglicky

Rationale Sarcoidosis is the immune-mediated systemic disease with unknown aetiology. The significance of polymorphisms in HLA loci with sarcoidosis has not been yet investigated with the recent molecular techniques which enable detailed characterisation of HLA alleles. We have, therefore, used next generation sequencing (NGS) to describe the role of HLA variations in the origin and development of sarcoidosis and its presentation. Methods We enrolled 212 patients diagnosed by ATS/ERS/WASOG guidelines in Brno University Hospital. Chest X-ray (CXR) stages I/II/III/IV were 73/96/38/5; Lőfgren syndrome (LS) was diagnosed in 43 cases and 59 cases presented with extrapulmonary symptoms of sarcoidosis. We performed genotyping of 7 HLA loci (HLA-A, -B, -C, -DRB1, -DQA1, -DQB1, -DPB1) by Omixon HolotypeTM kit and Twin softwareTM. HLA allele frequency was compared with data from allelic frequency database and HLA polymorphism distribution in the same loci with the same resolution typing by NGS in 168 unrelated Czech subjects (Petrek M, Osoegawa K, Gangavarapu S, Kocourkova L, Creary LE, Vayntrub T, Fernandez-Vina MA. Determination of HLA haplotypes in the Czech population using NGS typing - a family study. HLA 2019;93: 343-4).

Druh

O - Ostatní výsledky

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)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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