PMID- 26641277
OWN - NLM
STAT- MEDLINE
DCOM- 20160707
LR  - 20151209
IS  - 1421-9875 (Electronic)
IS  - 0257-2753 (Linking)
VI  - 33 Suppl 2
DP  - 2015
TI  - Genetic Risk and the Development of Autoimmune Liver Disease.
PG  - 13-24
LID - 10.1159/000440706 [doi]
AB  - Primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC) and 
      autoimmune hepatitis (AIH) have collectively been recognized as autoimmune liver 
      diseases. They have all been subjected to genome-wide association studies (GWAS) 
      and several dozens susceptibility loci have been determined. The predominant 
      feature of the genetic findings is that of a strong association with the human 
      leukocyte antigen (HLA) and numerous weak associations scattered throughout the 
      remainder of the genome. The non-HLA associations show some degree of overlap, 
      not only between PBC, PSC and AIH, but also with other autoimmune and 
      immune-mediated diseases. Mathematical modelling shows that the main fraction of 
      autoimmune disease risk (including that of autoimmune liver diseases) is not 
      explained by GWAS, proposing a major role of environmental factors. The HLA 
      associations and autoantibodies observed in these conditions may hold clues as to 
      the nature of such factors, which are exceedingly difficult to map by means of 
      epidemiological study designs. The present review article explores the potential 
      relationship between genetic risk as determined by GWAS and environmental risk in 
      autoimmune liver diseases, and proposes a model for relevant thinking on the 
      susceptibility genes in PBC, PSC and AIH.
CI  - (c) 2015 S. Karger AG, Basel.
FAU - Karlsen, Tom H
AU  - Karlsen TH
FAU - Chung, Brian K
AU  - Chung BK
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20151207
PL  - Switzerland
TA  - Dig Dis
JT  - Digestive diseases (Basel, Switzerland)
JID - 8701186
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Cholangitis, Sclerosing/*genetics/immunology
MH  - Gene-Environment Interaction
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - HLA Antigens/immunology
MH  - Hepatitis, Autoimmune/*genetics/immunology
MH  - Humans
MH  - Liver Cirrhosis, Biliary/*genetics/immunology
MH  - Risk Factors
EDAT- 2015/12/08 06:00
MHDA- 2016/07/09 06:00
CRDT- 2015/12/08 06:00
PHST- 2015/12/08 06:00 [entrez]
PHST- 2015/12/08 06:00 [pubmed]
PHST- 2016/07/09 06:00 [medline]
AID - 000440706 [pii]
AID - 10.1159/000440706 [doi]
PST - ppublish
SO  - Dig Dis. 2015;33 Suppl 2:13-24. doi: 10.1159/000440706. Epub 2015 Dec 7.