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      • Association of Immune Related Genes with Sarcoidosis in Korean Population

        ( Hee-young Yoon ),( Martin Petřek ),( Kateřina Sikorová ),( Adam Strnad ),( Lenka Kocourková ),( Su-jin Moon ),( Jin Woo Song ) 대한결핵 및 호흡기학회 2021 대한결핵 및 호흡기학회 추계학술대회 초록집 Vol.129 No.-

        Background Sarcoidosis is the immune-mediated disease, characterized by the formation of non-caseating epithelioid granulomas. Genetic factors affecting immune and inflammatory reactions have important role in pathophysiology of sarcoidosis. However, genetic factors of sarcoidosis in Koreans were not well known. Thus, we investigated the variability in polymorphic variants in genes involved in inflammation, immune system and granulomas development. Methods Twenty Single Nucleotide Polymorphisms (SNP) in 141 Korean patients with sarcoidosis were genotyped using multiplexed MassARRAY® iPLEX assay based on MALDI-TOF mass spectrometry (Agena Bioscience, CA, USA). SNPs frequency data in patients were compared with SNPs frequencies of healthy East Asia population from a database (ensembl.org). Each SNP was tested for HWE (> 0.01). Association was determined using allelic model with Fischer’s exact test with Bonferroni’s correction for multiple comparisons. Results We found six SNPs associated with sarcoidosis after Bonferroni’s correction. Of them, three (TGF-β3 rs3917200, TAP2 rs3819717, and HLA-DRB1*03:01 rs2040410) were protective factors (odds ratio [OR]< 1. while other three) (TGF-β2 rs1891467, HLADRA, HLA-DRB5 rs1964995, and HLA-DQA1 rs2187668) were risk factors (OR >1) (Table 1). In addition, SNP rs2040410 HLADRB1* 03:01 was a protective factor extrapulmonary manifestation of sarcoidosis (OR: 0.319 [0.154-0.661], pcorr=0.006). Conclusions We report SNPs in TAP2, TGF-β and HLA class II genes associated with sarcoidosis in Koreans. Further work in extended cohort is required to validate these findings and investigate their possible relationship with clinical course of sarcoidosis.

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