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@article{2319497,
author = {Kishore, Amit and Sikorova, Katerina and Kocourkova, Lenka and Petrkova, Jana and Doubková, Martina and Jakubec, Petr and Rebala, Krzysztof and Dubaniewicz, Anna and Petrek, Martin},
article_location = {Amsterdam},
article_number = {August 2023},
doi = {http://dx.doi.org/10.1016/j.gene.2023.147577},
keywords = {Pulmonary sarcoidosis; Immune gene polymorphism; Lofgren's syndrome; Genetic susceptibility; West -Slavonic population},
language = {eng},
issn = {0378-1119},
journal = {Gene},
title = {Evaluation of genetic risk, its clinical manifestation and disease management based on 18 susceptibility gene markers among West-Slavonic patients with sarcoidosis},
url = {https://www.sciencedirect.com/science/article/pii/S0378111923004183?via%3Dihub},
volume = {878},
year = {2023}
}
TY - JOUR
ID - 2319497
AU - Kishore, Amit - Sikorova, Katerina - Kocourkova, Lenka - Petrkova, Jana - Doubková, Martina - Jakubec, Petr - Rebala, Krzysztof - Dubaniewicz, Anna - Petrek, Martin
PY - 2023
TI - Evaluation of genetic risk, its clinical manifestation and disease management based on 18 susceptibility gene markers among West-Slavonic patients with sarcoidosis
JF - Gene
VL - 878
IS - August 2023
SP - 1-11
EP - 1-11
PB - Elsevier Science
SN - 03781119
KW - Pulmonary sarcoidosis
KW - Immune gene polymorphism
KW - Lofgren's syndrome
KW - Genetic susceptibility
KW - West -Slavonic population
UR - https://www.sciencedirect.com/science/article/pii/S0378111923004183?via%3Dihub
N2 - Sarcoidosis is a heterogenous, multisystemic inflammatory disease that primarily affects lungs. In this study, we multiplex genotyped 18 single-nucleotide polymorphisms (SNPs) to replicate the findings from previous genome-wide association studies (GWAS) and candidate gene studies, and extended analyses to different clinical manifestations (Lofgren's syndrome and chest X-ray [CXR] stages) including treatment response among West-Slavonic subjects (564 sarcoidosis patients and 301 healthy controls). We confirm the replication (with Bonferroni's correction) of ANXA11 rs1049550 as protective variant for sarcoidosis (odds ratio [OR] = 0.71, p = 1.33 x 10(-3)), non-LS (OR = 0.66, p = 2.71 x 10(-4)) and CXR stages 2-4 (OR = 0.62, p = 7.48 x 10(-5)) compared to controls in West-Slavonic population. We also validate the association of risk variants C6orf10 rs3129927 (OR = 2.61, p = 2.60 x 10(-8)), TNFA rs1800629 (OR = 1.56, p = 6.65 x 10(-4)), ATF6B rs3130288 (OR = 2.75, p = 1.06 x 10(-9)) and HLA-DQA1 rs2187668 (OR = 1.74, p = 8.83 x 10(-4)) with sarcoidosis compared to controls. For sub -phenotypes compared to controls, risk variants C6orf10 rs3129927 (OR = 5.35, p = 1.07 x 10(-12)), TNFA rs1800629 (OR = 2.66, p = 5.94 x 10(-7)), ATF6B rs3130288 (OR = 5.24, p = 5.21 x 10(-13)), LRRC16A rs9295661 (OR = 2.97, p = 4.29 x 10(-4)), HLA-DQA1 rs2187668 (OR = 3.14, p = 1.09 x 10(-6)) and HLA-DRA rs3135394 (OR = 5.23, p = 8.25 x 10(-13)) were associated with LS while C6orf10 rs3129927 (OR = 1.96, p = 4.27 x 10(-4)) and ATF6B rs3130288 (OR = 2.15, p = 3.36 x 10(-5)) were associated with non-LS. For CXR stages compared to controls, C6orf10 rs3129927 (OR = 3.67, p = 3.63 x 10(-11)), TNFA rs1800629 (OR = 1.84, p = 1.32 x 10(-4)), ATF6B rs3129927 (OR = 3.63, p = 1.82 x 10(-11)), HLA-DQA1 rs2187668 (OR = 2.13, p = 9.59 x 10(-5)) and HLA-DRA rs3135394 (OR = 3.42, p = 3.45 x 10(-10)) were risk variants for early CXR stages 0-1 while C6orf10 rs3129927 (OR = 1.99, p = 5.51 x 10(-4)), ATF6B rs3129927 (OR = 2.23, p = 3.52 x 10(-5)) and HLA-DRA rs3135394 (OR = 1.85, p = 2.00 x 10(-3)) were risk variants for advanced CXR stages 2-4. The present findings nominate gene variants as plausible prognostic markers for clinical phenotypes, treatment response and disease resolution/progression and may form the basis for establishing genotype-phenotype relationships in patients with sarcoidosis among West-Slavonic population.
ER -
KISHORE, Amit, Katerina SIKOROVA, Lenka KOCOURKOVA, Jana PETRKOVA, Martina DOUBKOVÁ, Petr JAKUBEC, Krzysztof REBALA, Anna DUBANIEWICZ a Martin PETREK. Evaluation of genetic risk, its clinical manifestation and disease management based on 18 susceptibility gene markers among West-Slavonic patients with sarcoidosis. \textit{Gene}. Amsterdam: Elsevier Science, 2023, roč.~878, August 2023, s.~1-11. ISSN~0378-1119. Dostupné z: https://dx.doi.org/10.1016/j.gene.2023.147577.
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