PMID- 35661780
OWN - NLM
STAT- MEDLINE
DCOM- 20220608
LR  - 20220802
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 12
IP  - 1
DP  - 2022 Jun 3
TI  - HLA class II variants defined by next generation sequencing are associated with 
      sarcoidosis in Korean patients.
PG  - 9302
LID - 10.1038/s41598-022-13199-w [doi]
LID - 9302
AB  - Polymorphic genes with immune functions, namely those of the human leukocyte 
      antigen (HLA) system, have been implicated in sarcoidosis pathogenesis. As HLA 
      polymorphisms in sarcoidosis have not been yet investigated in the Korean 
      population, we used next-generation sequencing (NGS), allowing detailed 
      characterization of HLA alleles to investigate the role of HLA variation in 
      Korean sarcoidosis patients. We enrolled 103 patients diagnosed by the 
      ATS/ERS/WASOG guidelines at Asan Medical Centre, Seoul, Korea. Among those, 
      genotyping of 7 HLA loci (HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -DPB1) was 
      performed using Omixon Holotype kit and HLATwin software. HLA allele 
      frequencies were compared with frequency data on healthy Koreans from the allelic 
      frequency databases, and 4-digit characteristics of HLA genotyping were used. 
      Associations were assessed by two-tailed Fischer's exact test with correction for 
      multiple comparisons. Variants previously associated with sarcoidosis risk 
      (HLA-C*03:04, HLA-DRB1*12:01, HLA-DRB1*14:54) and a known protective variant 
      HLA-DPB1*04:01, were associated with sarcoidosis in Koreans. Further, we suggest 
      new HLA variants associated with sarcoidosis risk (e.g., HLA-DQA1*05:08) and 
      novel protective variants HLA-DQB1*03:02 and HLA-DQA1*01:02 in Koreans. This 
      first study of HLA variation in Korean patients with sarcoidosis by precise 
      genotyping methodology reports data that could serve future meta-analyses on HLA 
      variation's role in sarcoidosis.
CI  - (c) 2022. The Author(s).
FAU - Sikorova, Katerina
AU  - Sikorova K
AD  - Department of Pathological Physiology & Institute of Molecular and Translational 
      Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, 
      Czech Republic.
FAU - Moon, Su-Jin
AU  - Moon SJ
AD  - Department of Pulmonary and Critical Care Medicine, Asan Medical Center, 
      University of Ulsan College of Medicine, Seoul, Republic of Korea.
FAU - Yoon, Hee-Young
AU  - Yoon HY
AD  - Division of Allergy and Respiratory Diseases, Soonchunhyang University Seoul 
      Hospital, Seoul, Republic of Korea.
FAU - Strnad, Adam
AU  - Strnad A
AD  - Department of Pathological Physiology, Faculty of Medicine and Dentistry, Palacky 
      University Olomouc, Olomouc, Czech Republic.
FAU - Song, Jin Woo
AU  - Song JW
AD  - Department of Pulmonary and Critical Care Medicine, Asan Medical Center, 
      University of Ulsan College of Medicine, Seoul, Republic of Korea. 
      jwsongasan@gmail.com.
FAU - Petrek, Martin
AU  - Petrek M
AD  - Department of Pathological Physiology & Institute of Molecular and Translational 
      Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, 
      Czech Republic. martin.petrek2@fnol.cz.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220603
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Histocompatibility Antigens Class I)
SB  - IM
MH  - Alleles
MH  - Gene Frequency
MH  - HLA-DRB1 Chains/genetics
MH  - Haplotypes
MH  - *High-Throughput Nucleotide Sequencing
MH  - Histocompatibility Antigens Class I/genetics
MH  - Humans
MH  - *Sarcoidosis/genetics
PMC - PMC9166778
COIS- The authors declare no competing interests.
EDAT- 2022/06/07 06:00
MHDA- 2022/06/09 06:00
PMCR- 2022/06/03
CRDT- 2022/06/06 12:53
PHST- 2022/01/27 00:00 [received]
PHST- 2022/05/23 00:00 [accepted]
PHST- 2022/06/06 12:53 [entrez]
PHST- 2022/06/07 06:00 [pubmed]
PHST- 2022/06/09 06:00 [medline]
PHST- 2022/06/03 00:00 [pmc-release]
AID - 10.1038/s41598-022-13199-w [pii]
AID - 13199 [pii]
AID - 10.1038/s41598-022-13199-w [doi]
PST - epublish
SO  - Sci Rep. 2022 Jun 3;12(1):9302. doi: 10.1038/s41598-022-13199-w.