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

Result code in 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>

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

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

Project

<a href="/en/project/NV18-05-00134" target="_blank" >NV18-05-00134: Immunogenetic molecular profile of sarcoidosis: significance for disease course prediction</a><br>

Continuities

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

Publication year

2024

Confidentiality

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

Name of the periodical

GENE

ISSN

0378-1119

e-ISSN

1879-0038

Volume of the periodical

927

Issue of the periodical within the volume

November 2024

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

8

Pages from-to

148706

UT code for WoS article

001260267200001

EID of the result in the Scopus database

2-s2.0-85196487629