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Titolo:
Immunogenetics in PSC
Autore:
Donaldson, PT; Norris, S;
Indirizzi:
Univ Newcastle Upon Tyne, Sch Clin Med Sci, Liver Res Ctr, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle UponTyne Tyne & Wear England NE2 4HH Univ London Kings Coll Hosp, Inst Hepatol, London SE5 9RS, England Univ London Kings Coll Hosp London England SE5 9RS ndon SE5 9RS, England
Titolo Testata:
BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY
fascicolo: 4, volume: 15, anno: 2001,
pagine: 611 - 627
SICI:
1521-6918(200108)15:4<611:IIP>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
PRIMARY SCLEROSING CHOLANGITIS; MAJOR HISTOCOMPATIBILITY COMPLEX; INFLAMMATORY BOWEL-DISEASE; PRIMARY BILIARY-CIRRHOSIS; ULCERATIVE-COLITIS; T-CELLS; AUTOIMMUNE HEPATITIS; GENE POLYMORPHISMS; HUMAN STROMELYSIN; HLA ASSOCIATIONS;
Keywords:
complex disease; non-Mendelian disease; polymorphism; autoimmunity; human leukocyte antigens (HLA); major histocompatability complex (MHC); interleukin (IL); cytokine; chemokine; apoptosis; metalloproteinase; fibrosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
64
Recensione:
Indirizzi per estratti:
Indirizzo: Donaldson, PT Univ Newcastle Upon Tyne, Sch Clin Med Sci, Liver Res Ctr, Framlington Pl,Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Univ Newcastle Upon Tyne Framlington Pl Newcastle Upon Tyne Tyne & Wear England NE2 4HH
Citazione:
P.T. Donaldson e S. Norris, "Immunogenetics in PSC", BEST PR RES, 15(4), 2001, pp. 611-627

Abstract

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 genesof the major histocompatability complex (MHC). Thus far, five different human leukocyte antigen (HLA) haplotypes have been associated with PSC: threewith 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 thepotential 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 23:37:21