PMID- 34016546
OWN - NLM
STAT- MEDLINE
DCOM- 20220211
LR  - 20221207
IS  - 1878-3562 (Electronic)
IS  - 1590-8658 (Linking)
VI  - 54
IP  - 2
DP  - 2022 Feb
TI  - Novel HLA-DRB1 alleles contribute risk for disease susceptibility in primary 
      biliary cholangitis.
PG  - 228-236
LID - S1590-8658(21)00196-1 [pii]
LID - 10.1016/j.dld.2021.04.010 [doi]
AB  - BACKGROUND: Primary biliary cholangitis (PBC) is a complex disease with high 
      heritability. We investigated the association between human leukocyte antigen 
      (HLA)-DRB1 alleles and PBC in families and sporadic cases to evaluate the genetic 
      components of the disease. METHODS: We performed whole exome sequencing in three 
      PBC families. We genotyped HLA-DRB1 and calculated the association between 
      HLA-DRB1 alleles and the encoding amino acid sequences with the clinical 
      features. RESULTS: Ten variants harboured the HLA-DRB1 gene associated with PBC. 
      DRB1x07:01, 14:01 and 14:05 were highly increased in PBC. Ten coding region 
      polymorphisms were associated with PBC that encode the amino acid variants of 
      HLA-DR beta54, beta59 and beta66 located in the peptide-binding site of the MHC molecule. 
      Glutamine at position 54 was confirmed as a risk amino acid, verifying the 
      results of familial aggregation analysis of PBC families. DISCUSSION: Familial 
      aggregation analysis indicated that HLA-DRB1 is a candidate gene for the risk of 
      disease course. Considering that amino acid variations are critical to 
      peptide-binding properties, they underlie the major component of MHC association 
      with PBC.
CI  - Copyright (c) 2021 Editrice Gastroenterologica Italiana S.r.l. Published by 
      Elsevier Ltd. All rights reserved.
FAU - Li, Yanni
AU  - Li Y
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China; Department of Gastroenterology and Hepatology, 
      University of Groningen and University Medical Center Groningen, Groningen, the 
      Netherlands.
FAU - Liu, Xin
AU  - Liu X
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Wang, Yi
AU  - Wang Y
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China; Department of General Surgery, YouAn Hospital, Capital 
      Medical University, Beijing, China.
FAU - Zhou, Yi
AU  - Zhou Y
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Hu, Shixian
AU  - Hu S
AD  - Department of Gastroenterology and Hepatology, University of Groningen and 
      University Medical Center Groningen, Groningen, the Netherlands.
FAU - Yang, Hui
AU  - Yang H
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Zhong, Weilong
AU  - Zhong W
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Zhao, Jingwen
AU  - Zhao J
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Wang, Xiaoyi
AU  - Wang X
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Chu, Hongyu
AU  - Chu H
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Zheng, Yanping
AU  - Zheng Y
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Zhang, Jie
AU  - Zhang J
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China.
FAU - Zhou, Lu
AU  - Zhou L
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China; Department of Gastroenterology and Hepatology, People's 
      Hospital of Hetian District, Xinjiang Uygur Autonomous Region, China. Electronic 
      address: lzhou01@tmu.edu.cn.
FAU - Wang, Bangmao
AU  - Wang B
AD  - Department of Gastroenterology and Hepatology, Tianjin Medical University General 
      Hospital, Tianjin, China. Electronic address: gi.tmuh@yeah.net.
LA  - eng
PT  - Journal Article
DEP - 20210517
PL  - Netherlands
TA  - Dig Liver Dis
JT  - Digestive and liver disease : official journal of the Italian Society of 
      Gastroenterology and the Italian Association for the Study of the Liver
JID - 100958385
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Aged
MH  - Alleles
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotype
MH  - HLA-DRB1 Chains/*genetics
MH  - Humans
MH  - Liver Cirrhosis, Biliary/*genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation, Missense
MH  - Polymorphism, Genetic
MH  - Risk Factors
MH  - Exome Sequencing
OTO - NOTNLM
OT  - Amino acid residues
OT  - HLA-DRB1 alleles
OT  - Pedigree
OT  - Primary biliary cholangitis
EDAT- 2021/05/22 06:00
MHDA- 2022/02/12 06:00
CRDT- 2021/05/21 05:57
PHST- 2021/01/07 00:00 [received]
PHST- 2021/04/07 00:00 [revised]
PHST- 2021/04/08 00:00 [accepted]
PHST- 2021/05/22 06:00 [pubmed]
PHST- 2022/02/12 06:00 [medline]
PHST- 2021/05/21 05:57 [entrez]
AID - S1590-8658(21)00196-1 [pii]
AID - 10.1016/j.dld.2021.04.010 [doi]
PST - ppublish
SO  - Dig Liver Dis. 2022 Feb;54(2):228-236. doi: 10.1016/j.dld.2021.04.010. Epub 2021 
      May 17.