PMID- 11492971
OWN - NLM
STAT- MEDLINE
DCOM- 20010913
LR  - 20091103
IS  - 1521-6918 (Print)
IS  - 1521-6918 (Linking)
VI  - 15
IP  - 4
DP  - 2001 Aug
TI  - Immunogenetics in PSC.
PG  - 611-27
AB  - Primary sclerosing cholangitis (PSC) does not exhibit simple Mendelian 
      inheritance attributable to a single gene locus and our knowledge of the genetics 
      of this complex disease is based entirely on case-control studies of candidate 
      genes. The prime candidates in PSC are inherited variation (polymorphism) in the 
      genes that regulate the immune response, especially the genes of the major 
      histocompatability complex (MHC). Thus far, five different human leukocyte 
      antigen (HLA) haplotypes have been associated with PSC: three with increased risk 
      of disease and two with reduced risk. More recently studies of non-MHC genes have 
      failed to associate PSC with several cytokine genes (IL-1 and IL-10), with FAS 
      (TNFRSF6), with TGFbeta-1, or with CCR-5 but have found genetic links with MMP-3 
      and disease progression, whilst the potential role of CTLA-4 gene polymorphism 
      remains in question. With the completion of the human genome project, 
      understanding the genetics of complex (non-Mendelian) disease is a major priority 
      for the research community and the studies summarized herein may guide these 
      future investigations.
CI  - Copyright 2001 Harcourt Publishers Ltd.
FAU - Donaldson, P T
AU  - Donaldson PT
AD  - Centre for Liver Research, The School of Clinical Medical Sciences, The 
      University of Newcastle, Framlington Place, Newcastle-upon-Tyne, NE2 4HH, UK. 
      p.t.donaldson@ncl.ac.uk
FAU - Norris, S
AU  - Norris S
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Best Pract Res Clin Gastroenterol
JT  - Best practice & research. Clinical gastroenterology
JID - 101120605
SB  - IM
MH  - Cholangitis, Sclerosing/*genetics/immunology
MH  - Disease Susceptibility
MH  - Humans
MH  - Major Histocompatibility Complex/immunology
RF  - 64
EDAT- 2001/08/09 10:00
MHDA- 2001/09/14 10:01
CRDT- 2001/08/09 10:00
PHST- 2001/08/09 10:00 [pubmed]
PHST- 2001/09/14 10:01 [medline]
PHST- 2001/08/09 10:00 [entrez]
AID - S1521691801902082 [pii]
AID - 10.1053/bega.2001.0208 [doi]
PST - ppublish
SO  - Best Pract Res Clin Gastroenterol. 2001 Aug;15(4):611-27. doi: 
      10.1053/bega.2001.0208.