PMID- 29159718
OWN - NLM
STAT- MEDLINE
DCOM- 20180719
LR  - 20220330
IS  - 1865-7265 (Electronic)
IS  - 1865-7265 (Linking)
VI  - 11
IP  - 1
DP  - 2018 Feb
TI  - Genetics and epigenetics in the pathogenesis of primary biliary cholangitis.
PG  - 11-18
LID - 10.1007/s12328-017-0799-z [doi]
AB  - Primary biliary cholangitis (PBC) is a chronic, slowly progressive cholestatic 
      autoimmune liver disease predominantly afflicting women. PBC is characterized by 
      the presence of disease-specific antimitochondrial antibodies and the 
      histological destruction of intrahepatic bile ducts, which eventually lead to 
      cirrhosis and hepatic failure. Fortunately, ursodeoxycholic acid therapy has 
      improved the outcome of the vast majority of PBC cases. Although the etiology of 
      PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles 
      have been consistently associated with disease onset for decades. PBC patients 
      may also have genetically determined risk factors in non-HLA regions. Meanwhile, 
      exposure to environmental factors, such as infectious diseases and harmful 
      chemicals, can produce epigenetic alterations in some individuals and subsequent 
      PBC onset. In this review, we describe the influence of HLA alleles and other 
      gene polymorphisms on PBC along with the results of genome-wide association 
      studies on this disease and its future prospects in terms of epigenetics.
FAU - Joshita, Satoru
AU  - Joshita S
AUID- ORCID: 0000-0002-6364-9654
AD  - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu 
      University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan. 
      joshita@shinshu-u.ac.jp.
AD  - Research Center for Next Generation Medicine, Shinshu University, Matsumoto, 
      Japan. joshita@shinshu-u.ac.jp.
FAU - Umemura, Takeji
AU  - Umemura T
AD  - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu 
      University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan.
AD  - Research Center for Next Generation Medicine, Shinshu University, Matsumoto, 
      Japan.
FAU - Tanaka, Eiji
AU  - Tanaka E
AD  - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu 
      University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan.
FAU - Ota, Masao
AU  - Ota M
AD  - Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu 
      University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan. 
      otamasao@shinshu-u.ac.jp.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20171120
PL  - Japan
TA  - Clin J Gastroenterol
JT  - Clinical journal of gastroenterology
JID - 101477246
RN  - 0 (HLA Antigens)
RN  - 187348-17-0 (Interleukin-12)
SB  - IM
MH  - Alleles
MH  - Cholangitis/*genetics
MH  - Environmental Exposure
MH  - *Epigenesis, Genetic
MH  - Genetic Predisposition to Disease
MH  - *Genome-Wide Association Study
MH  - HLA Antigens/*physiology
MH  - Humans
MH  - Interleukin-12/physiology
MH  - Microsatellite Repeats
MH  - Polymorphism, Single Nucleotide
MH  - Signal Transduction
OTO - NOTNLM
OT  - Genome-wide association study
OT  - Human leukocyte antigen
OT  - Interleukin 12 signaling pathway
OT  - Primary biliary cholangitis
EDAT- 2017/11/22 06:00
MHDA- 2018/07/20 06:00
CRDT- 2017/11/22 06:00
PHST- 2017/10/30 00:00 [received]
PHST- 2017/11/05 00:00 [accepted]
PHST- 2017/11/22 06:00 [pubmed]
PHST- 2018/07/20 06:00 [medline]
PHST- 2017/11/22 06:00 [entrez]
AID - 10.1007/s12328-017-0799-z [pii]
AID - 10.1007/s12328-017-0799-z [doi]
PST - ppublish
SO  - Clin J Gastroenterol. 2018 Feb;11(1):11-18. doi: 10.1007/s12328-017-0799-z. Epub 
      2017 Nov 20.