Immunogenetics in PSC

被引:45
作者
Donaldson, PT
Norris, S
机构
[1] Newcastle Univ, Sch Clin Med Sci, Liver Res Ctr, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[2] Kings Coll Hosp London, Inst Hepatol, London SE5 9RS, England
关键词
complex disease; non-Mendelian disease; polymorphism; autoimmunity; human leukocyte antigens (HLA); major histocompatability complex (MHC); interleukin (IL); cytokine; chemokine; apoptosis; metalloproteinase; fibrosis;
D O I
10.1053/bega.2001.0208
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
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 TGF beta -I, 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.
引用
收藏
页码:611 / 627
页数:17
相关论文
共 64 条
[1]   CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis [J].
Agarwal, K ;
Jones, DEJ ;
Daly, AK ;
James, OFW ;
Vaidya, B ;
Pearce, S ;
Bassendine, MF .
JOURNAL OF HEPATOLOGY, 2000, 32 (04) :538-541
[2]  
Agarwal K, 2000, HEPATOLOGY, V32, p173A
[3]   Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis [J].
Agarwal, K ;
Czaja, AJ ;
Jones, DEJ ;
Donaldson, PT .
HEPATOLOGY, 2000, 31 (01) :49-53
[4]  
[Anonymous], 1999, NAT GENET, V22, P1
[5]   Chemokines and leukocyte traffic [J].
Baggiolini, M .
NATURE, 1998, 392 (6676) :565-568
[6]   Activation of NK Cells and T Cells by NKG2D, a Receptor for Stress-Inducible MICA [J].
Bauer, Stefan ;
Groh, Veronika ;
Wu, Jun ;
Steinle, Alexander ;
Phillips, Joseph H. ;
Lanier, Lewis L. ;
Spies, Thomas .
JOURNAL OF IMMUNOLOGY, 2018, 200 (07) :2231-2233
[7]   MEASURING THE STRENGTH OF ASSOCIATIONS BETWEEN HLA ANTIGENS AND DISEASES [J].
BENGTSSON, BO ;
THOMSON, G .
TISSUE ANTIGENS, 1981, 18 (05) :356-363
[8]   Expression of tissue inhibitor of metalloproteinases 1 and 2 is increased in fibrotic human liver [J].
Benyon, RC ;
Iredale, JP ;
Goddard, S ;
Winwood, PJ ;
Arthur, MJP .
GASTROENTEROLOGY, 1996, 110 (03) :821-831
[9]   Association of tumor necrosis factor polymorphism with primary sclerosing cholangitis [J].
Bernal, W ;
Moloney, M ;
Underhill, J ;
Donaldson, PT .
JOURNAL OF HEPATOLOGY, 1999, 30 (02) :237-241
[10]   Cytokine gene polymorphism in human disease: on-line databases [J].
Bidwell, J ;
Keen, L ;
Gallagher, G ;
Kimberly, R ;
Huizinga, T ;
McDermott, MF ;
Oksenberg, J ;
McNicholl, J ;
Pociot, F ;
Hardt, C ;
D'Alfonso, S .
GENES AND IMMUNITY, 1999, 1 (01) :3-19