[Genetics of primary biliary cirrhosis].
The primary biliary cirrhosis is a chronic cholestatic liver disease, which is characterised by non-suppurative destruction of interlobular bile ducts. The precise etiopathogenesis of primary biliary cirrhosis remains unknown. Evidence suggest that genetic and environmental factors seem to be important. It shows strong heritability according to familial occurrence and monozygotic twins concordance. There is an increase in the degree of monosomy of the X chromosome in female subjects with PBC. There is an association with HLA-DR8 (DR1*08) antigen at least in some populations. Correlation the PBC with polymorphisms of HLA class I, II, III alleles, genes encoding for molecules influencing immune tolerance, apoptosis, cytokine expression, will require additional studies.
Hagymási
Krisztina
K
Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest. hkriszti@bel2.sote.hu
Tulassay
Zsolt
Z
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D060908:CTLA-4 Antigen; D018925:Chemokines / Q000235:genetics; D041321:Chromosomes, Human, X; D016207:Cytokines / Q000235:genetics*; D005260:Female; D005805:Genes, MHC Class I; D005802:Genes, MHC Class II; D020022:Genetic Predisposition to Disease; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics; D016753:Interleukin-10 / Q000235:genetics; D008105:Liver Cirrhosis, Biliary / Q000235:genetics*; D008285:Major Histocompatibility Complex / Q000235:genetics*; D008297:Male; D009006:Monosomy; D011110:Polymorphism, Genetic
D018528:ATP-Binding Cassette Transporters; D015703:Antigens, CD; D000943:Antigens, Differentiation; D001057:Apolipoproteins E; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018925:Chemokines; D016207:Cytokines; D007375:Interleukin-1; D016753:Interleukin-10