title: The most severe forms of type I autoimmune hepatitis are associated with genetically determined levels of TGF-beta1.
abstract: We previously reported that paediatric (PAH) and adult (AAH) forms of type I autoimmune hepatitis (AH) have different HLA-associations and clinical outcome. In the present study we investigated the role of TGF-beta1 genetic polymorphisms in the different outcome of PAH and AAH. We found a significant increase of "high producer" 25GG genotype in PAH and 10CC in AAH. Low inflammation and low fibrosis in AAH was associated with the increase of codon 10CC (high producer) and codon 25CC (low producer) genotypes. The analysis in AAH of the two positions-haplotypes revealed that combined presence of 25GG and 10CC seems to neutralize the 10CC effect which remained in AAH having the 10CC(+)-25GG(-) haplotype. Altogether these results may explain, at least partially, the different clinical outcome of AAH and PAH.
authors: Hospital de Clínicas, Universidad de Buenos Aires, Argentina.
authors: Natalia
authors: N
authors: Paladino
authors: Ana Claudia
authors: AC
authors: Flores
authors: Hugo
authors: H
authors: Fainboim
authors: Teresa
authors: T
authors: Schroder
authors: Miriam
authors: M
authors: Cuarterolo
authors: Carol
authors: C
authors: Lezama
authors: Esteban Gonzáles
authors: EG
authors: Ballerga
authors: Diana
authors: D
authors: Levi
authors: Hugo
authors: H
authors: Tanno
authors: Gabriel
authors: G
authors: Costanzo
authors: Lourdes
authors: L
authors: Arruvito
authors: Leonardo
authors: L
authors: Fainboim
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003062:Codon; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D005838:Genotype; D019693:Hepatitis, Autoimmune / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000276:immunology*; D055815:Young Adult
chemical_list: D003062:Codon; D016212:Transforming Growth Factor beta; D004247:DNA