PMID- 30343705
OWN - NLM
STAT- MEDLINE
DCOM- 20181211
LR  - 20181211
IS  - 1532-1916 (Electronic)
IS  - 1521-6918 (Linking)
VI  - 34-35
DP  - 2018 Jun-Aug
TI  - Geoepidemiology and (epi-)genetics in primary biliary cholangitis.
PG  - 11-15
LID - S1521-6918(18)30051-9 [pii]
LID - 10.1016/j.bpg.2018.05.011 [doi]
AB  - Primary biliary cholangitis (PBC) is a rare female preponderant chronic 
      autoimmune cholestatic liver disease, characterized by intrahepatic ductopenia 
      and progressive fibrosis. During last decades incidence and prevalence showed an 
      increasing rate which vary widely worldwide demonstrating an important 
      interaction between environmental and genetic factors. Heritability suggested by 
      familial occurrence and monozygotic twins concordance have been confirmed in more 
      studies. Epigenetics mechanisms such as histone modification and DNA methylation 
      can partially explain predisposition and inheritance of this disease. 
      Nevertheless, an association with specific class II human leukocyte antigen (HLA) 
      variants have been reported, showing an increase risk in susceptibility. More 
      recently, data regarding a strong protective association between PBC and HLA 
      alleles confirmed this association. After recent genome-wide association studies 
      (GWAS), a more intricate interaction between PBC and the HLA region has been 
      shown. Furthermore, GWAS also identified several immune-related-genes implicated. 
      More genome-wide association studies on this disease are needed to reach a 
      complete and systematic knowledge of this disease. In this review we discuss more 
      recent issued data on geoepidemiology of PBC and the role of (epi-)genetic 
      mechanisms in its pathogenesis.
CI  - Copyright (c) 2018 Elsevier Ltd. All rights reserved.
FAU - Rosa, Roberto
AU  - Rosa R
AD  - Division of Gastroenterology and Center for Autoimmune Liver Diseases, Department 
      of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy.
FAU - Cristoferi, Laura
AU  - Cristoferi L
AD  - Division of Gastroenterology and Center for Autoimmune Liver Diseases, Department 
      of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy.
FAU - Tanaka, Atsushi
AU  - Tanaka A
AD  - Department of Medicine, Teikyo University School of Medicine, 2-11-1, Kaga, 
      Itabashi-ku, Tokyo, Japan.
FAU - Invernizzi, Pietro
AU  - Invernizzi P
AD  - Division of Gastroenterology and Center for Autoimmune Liver Diseases, Department 
      of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy. Electronic 
      address: pietro.invernizzi@unimib.it.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20180516
PL  - Netherlands
TA  - Best Pract Res Clin Gastroenterol
JT  - Best practice & research. Clinical gastroenterology
JID - 101120605
SB  - IM
MH  - *Epigenomics
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - Geography
MH  - Global Health
MH  - Humans
MH  - Liver Cirrhosis, Biliary/*epidemiology/*genetics
OTO - NOTNLM
OT  - DNA methylation
OT  - Epigenetics
OT  - Genetics
OT  - Geoepidemiology
OT  - Human leukocyte antigen
OT  - Primary biliary cholangitis
OT  - X-chromosome monosomy
EDAT- 2018/10/23 06:00
MHDA- 2018/12/12 06:00
CRDT- 2018/10/23 06:00
PHST- 2018/03/13 00:00 [received]
PHST- 2018/05/14 00:00 [accepted]
PHST- 2018/10/23 06:00 [entrez]
PHST- 2018/10/23 06:00 [pubmed]
PHST- 2018/12/12 06:00 [medline]
AID - S1521-6918(18)30051-9 [pii]
AID - 10.1016/j.bpg.2018.05.011 [doi]
PST - ppublish
SO  - Best Pract Res Clin Gastroenterol. 2018 Jun-Aug;34-35:11-15. doi: 
      10.1016/j.bpg.2018.05.011. Epub 2018 May 16.