PMID- 37325616
OWN - NLM
STAT- MEDLINE
DCOM- 20230619
LR  - 20240315
IS  - 1664-3224 (Electronic)
IS  - 1664-3224 (Linking)
VI  - 14
DP  - 2023
TI  - Novel HLA allele associations with susceptibility, staging, symptomatic state, 
      autoimmune hepatitis and hepatocellular carcinoma events for primary biliary 
      cholangitis in the Japanese population.
PG  - 1151502
LID - 10.3389/fimmu.2023.1151502 [doi]
LID - 1151502
AB  - Primary biliary cholangitis (PBC) is a rare autoimmune disease with a clear 
      predisposition for human leukocyte antigen (HLA)-DR/DQ-associated loss of immune 
      tolerance for the E2 component of the pyruvate dehydrogenase complex. 
      Three-field-resolution HLA imputation of 1,670 Japanese PBC patients and 2,328 
      healthy controls was conducted using Japanese population-specific HLA reference 
      panels. Eighteen previously reported Japanese PBC-associated HLA alleles were 
      confirmed and extended to 3-field-resolution, including HLA-DRB1*08:03 to 
      HLA-DRB1*08:03:02, HLA-DQB1*03:01 to HLA-DQB1*03:01:01, HLA-DQB1*04:01 to 
      HLA-DQB1*04:01:01 and HLA-DQB1*06:04 to HLA-DQB1*06:04:01. In addition, 
      additional significant novel HLA alleles were identified, including 3 novel 
      susceptible HLA-DQA1 alleles: HLA-DQA1*03:03:01, HLA-DQA1*04:01:01, 
      HLA-DQA1*01:04:01 and 1 novel protective HLA-DQA1 allele, HLA-DQA1*05:05:01. In 
      addition, PBC patients carrying HLA-DRB1*15:01:01 and HLA-DQA1*03:03:01 would 
      have a higher predisposition toward developing concomitant autoimmune hepatitis 
      (AIH). Further, late-stage and symptomatic PBC shared the same susceptible HLA 
      alleles of HLA-A*26:01:01, HLA-DRB1*09:01:02 and HLA-DQB1*03:03:02. Lastly, 
      HLA-DPB1*05:01:01 was identified as a potential risk HLA allele for development 
      of hepatocellular carcinoma (HCC) in PBC patients. In conclusion, we have 
      extended the current knowledge of HLA allele associations to 3-field resolution 
      and identified novel HLA allele associations with predisposition risk, staging, 
      symptomatic state, and AIH and HCC events for Japanese PBC patients.
CI  - Copyright (c) 2023 Khor, Ueno, Nishida, Kawashima, Kawai, Aiba, Hitomi, Nagasaki, 
      Nakamura and Tokunaga.
FAU - Khor, Seik-Soon
AU  - Khor SS
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
FAU - Ueno, Kazuko
AU  - Ueno K
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
FAU - Nishida, Nao
AU  - Nishida N
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
AD  - The Research Center for Hepatitis and Immunology, Research Institute, National 
      Center for Global Health and Medicine, Ichikawa, Japan.
FAU - Kawashima, Minae
AU  - Kawashima M
AD  - Database Center for Life Science (DBCLS), Research Organization of Information 
      and Systems, Chiba, Japan.
FAU - Kawai, Yosuke
AU  - Kawai Y
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
FAU - Aiba, Yoshihiro
AU  - Aiba Y
AD  - Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical 
      Center, Omura, Japan.
FAU - Hitomi, Yuki
AU  - Hitomi Y
AD  - Department of Human Genetics, Research Institute, National Center for Global 
      Health and Medicine, Tokyo, Japan.
FAU - Nagasaki, Masao
AU  - Nagasaki M
AD  - Medical Research Center for High Depth Omics, Medical Institute of Bioregulation, 
      Kyushu University, Fukuoka, Japan.
AD  - Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, 
      Kyoto, Japan.
FAU - Nakamura, Minoru
AU  - Nakamura M
AD  - Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical 
      Center, Omura, Japan.
AD  - Department of Hepatology, Nagasaki University Graduate School of Biomedical 
      Sciences, Omura, Japan.
AD  - Headquarters of Primary Biliary Cholangitis (PBC) Research in NHO Study Group for 
      Liver Disease in Japan (NHOSLJ), Clinical Research Center, NHO Nagasaki Medical 
      Center, Omura, Japan.
FAU - Tokunaga, Katsushi
AU  - Tokunaga K
AD  - Genome Medical Science Project, National Center for Global Health and Medicine, 
      Tokyo, Japan.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230531
PL  - Switzerland
TA  - Front Immunol
JT  - Frontiers in immunology
JID - 101560960
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Humans
MH  - *Carcinoma, Hepatocellular/genetics
MH  - HLA-DRB1 Chains/genetics
MH  - Alleles
MH  - Genetic Predisposition to Disease
MH  - *Hepatitis, Autoimmune/genetics
MH  - *Liver Cirrhosis, Biliary/genetics
MH  - East Asian People
MH  - Haplotypes
MH  - Gene Frequency
MH  - *Liver Neoplasms/genetics
PMC - PMC10264690
OTO - NOTNLM
OT  - HLA
OT  - Scheuer staging system
OT  - autoimmune hepatitis
OT  - hepatocellular carcinoma
OT  - primary biliary cholangitis
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/06/16 06:42
MHDA- 2023/06/19 13:08
PMCR- 2023/01/01
CRDT- 2023/06/16 04:27
PHST- 2023/01/26 00:00 [received]
PHST- 2023/05/18 00:00 [accepted]
PHST- 2023/06/19 13:08 [medline]
PHST- 2023/06/16 06:42 [pubmed]
PHST- 2023/06/16 04:27 [entrez]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fimmu.2023.1151502 [doi]
PST - epublish
SO  - Front Immunol. 2023 May 31;14:1151502. doi: 10.3389/fimmu.2023.1151502. 
      eCollection 2023.