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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 and 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, vol.~878, August 2023, p.~1-11. ISSN~0378-1119. Available from: https://dx.doi.org/10.1016/j.gene.2023.147577.
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