Association of HLA variants and related SNPs with sarcoidosis and its phenotypes in the Greek patients

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F24%3A73628440" target="_blank" >RIV/61989592:15110/24:73628440 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.sciencedirect.com/science/article/pii/S0378111924005870?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0378111924005870?via%3Dihub</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.gene.2024.148706" target="_blank" >10.1016/j.gene.2024.148706</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Association of HLA variants and related SNPs with sarcoidosis and its phenotypes in the Greek patients

Popis výsledku v původním jazyce

Sarcoidosis is an immune-mediated disease, characterized by the formation of granulomas in the affected organs, mostly in the lung, and with a wide spectrum of clinical phenotypes (Nunes et al., 2005, Nunes et al., 2007, Ma et al., 2007, Schupp et al., 2018, Drent et al., 2021, Spagnolo and Grunewald, 2022).In this complex, multifactorial condition, both environmental and genetic factors contribute to the disease origin and development. Genetic variations act as factors determining disease onset and namely as modulators of its clinical phenotype in terms of the extent of lung involvement, disease resolution/progression, response to therapy, and/or organ manifestation (Ma et al., 2007, Chen and Moller, 2008, Grunewald et al., 2019). Candidate genes implicated in sarcoidosis include namely genes located within the polymorphic Major Histocompatibility Complex (MHC), known as Human Leukocyte Antigen (HLA) in humans (Calender et al., 2020, van Moorsel et al., 2022, Judson, 2023, Liao et al., 2023b). Other polymorphic variants mostly in the genes with immune function and signaling processes, may also contribute to sarcoidosis genetic background (Kishore and Petrek, 2013, Judson, 2019, Garman et al., 2020, Sikorova et al., 2020, Liao et al., 2023b).The extent to which the above-mentioned genetic factors affect the disease itself and/or its clinical phenotypes is substantially influenced by patients&apos; ethnic origin (Garman et al., 2020, van Moorsel et al., 2022). In this context, there have been numerous investigations of relationships between sarcoidosis and HLA employing distinct levels of HLA-typing precision (HLA antigens, HLA allelic groups, and recently occasionally HLA alleles) mostly from populations of Western or Northern European and/or Afro-American descent (Rossman et al., 2003, Fingerlin et al., 2015). However, to our knowledge, the Southern-European population of Greece has never been studied in this regard. We have, therefore, recruited Greek sarcoidosis patients and investigated associations between sarcoidosis and HLA alleles, including HLA-related single nucleotide polymorphisms (SNP). We were particularly interested if these genetic factors may affect sarcoidosis clinical phenotypes. Hereby, we report our results, which despite their preliminary nature may be useful for future investigations, either meta-analyses or confirmatory, replication studies.

Název v anglickém jazyce

Association of HLA variants and related SNPs with sarcoidosis and its phenotypes in the Greek patients

Popis výsledku anglicky

Sarcoidosis is an immune-mediated disease, characterized by the formation of granulomas in the affected organs, mostly in the lung, and with a wide spectrum of clinical phenotypes (Nunes et al., 2005, Nunes et al., 2007, Ma et al., 2007, Schupp et al., 2018, Drent et al., 2021, Spagnolo and Grunewald, 2022).In this complex, multifactorial condition, both environmental and genetic factors contribute to the disease origin and development. Genetic variations act as factors determining disease onset and namely as modulators of its clinical phenotype in terms of the extent of lung involvement, disease resolution/progression, response to therapy, and/or organ manifestation (Ma et al., 2007, Chen and Moller, 2008, Grunewald et al., 2019). Candidate genes implicated in sarcoidosis include namely genes located within the polymorphic Major Histocompatibility Complex (MHC), known as Human Leukocyte Antigen (HLA) in humans (Calender et al., 2020, van Moorsel et al., 2022, Judson, 2023, Liao et al., 2023b). Other polymorphic variants mostly in the genes with immune function and signaling processes, may also contribute to sarcoidosis genetic background (Kishore and Petrek, 2013, Judson, 2019, Garman et al., 2020, Sikorova et al., 2020, Liao et al., 2023b).The extent to which the above-mentioned genetic factors affect the disease itself and/or its clinical phenotypes is substantially influenced by patients&apos; ethnic origin (Garman et al., 2020, van Moorsel et al., 2022). In this context, there have been numerous investigations of relationships between sarcoidosis and HLA employing distinct levels of HLA-typing precision (HLA antigens, HLA allelic groups, and recently occasionally HLA alleles) mostly from populations of Western or Northern European and/or Afro-American descent (Rossman et al., 2003, Fingerlin et al., 2015). However, to our knowledge, the Southern-European population of Greece has never been studied in this regard. We have, therefore, recruited Greek sarcoidosis patients and investigated associations between sarcoidosis and HLA alleles, including HLA-related single nucleotide polymorphisms (SNP). We were particularly interested if these genetic factors may affect sarcoidosis clinical phenotypes. Hereby, we report our results, which despite their preliminary nature may be useful for future investigations, either meta-analyses or confirmatory, replication studies.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10603 - Genetics and heredity (medical genetics to be 3)

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

2024

Kód důvěrnosti údajů

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

Název periodika

GENE

ISSN

0378-1119

e-ISSN

1879-0038

Svazek periodika

927

Číslo periodika v rámci svazku

November 2024

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

8

Strana od-do

148706

Kód UT WoS článku

001260267200001

EID výsledku v databázi Scopus

2-s2.0-85196487629