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RISS 인기검색어
- 검색키워드
- 저자 : ( Kateřina Sikorová ) (검색결과 2 건)
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Association of HLA Variants with Sarcoidosis in Koreans
( Ho Jeong Kim ),( Kateřina Sikorová ),( Martin Petřek ),( Veronika Žižková ),( Su-jin Moon ),( Jin Woo Song ) 대한결핵 및 호흡기학회 2020 대한결핵 및 호흡기학회 추계학술대회 초록집 Vol.128 No.-
Background Sarcoidosis is the immune-mediated disease and the role of HLA polymorphisms was implicated. However, the association between HLA polymorphisms and sarcoidosis in Koreans has not yet been investigated. The aim of this study was to investigate the role of HLA variation in the etiopathogenesis of sarcoidosis in Koreans using next-generation sequencing. Methods In this study, 63 patients diagnosed with sarcoidosis at Asan Medical Center, Seoul, South Korea, were enrolled. The diagnosis of sarcoidosis was based on the World Association of Sarcoidosis and Other Granulomatous Diseases (WASOG) Assessment Instrument. We performed genotyping of 7 HLA loci (HLA-A, -B, -C, DRB1, -DQA1, -DQB1, -DPB1) by Omixon Holotype™ kit and Twin software™. HLA allele frequency of sarcoidosis patients was compared with data on healthy Koreans from the allelic frequency database (http://allelefrequencies.net, South Korea pop1 and pop3). Results Of total subjects, the mean age was 45.8 years, and 33.3% were men. The allele frequencies were different between the sarcoidosis cases and the healthy population, especially in HLA-class II. Alleles HLA-DQA1*05:08; DQB1*03:01 and DRB1*12:01 showed significantly higher frequencies in patients with sarcoidosis compared with healthy subjects (Figure 1). By contrast, alleles HLA DQA1*01:02; DQB1*03:02 and DRB1*13:02 were more common in healthy subjects than sarcoidosis cases. Alleles HLA-A*31:01; A*02:06 and DQB1*06:01 were significantly associated with treated patients. Conclusions In this pilot study, we found some sarcoidosis-associated variants in Koreans, especially in the HLA-class II. Korean patients showed different HLA variants compared with that in Western patients.
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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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