The early onset of type 1 autoimmune hepatitis has a strong genetic influence: role of HLA and KIR genes.

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The early onset of type 1 autoimmune hepatitis has a strong genetic influence: role of HLA and KIR genes.

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Title: The early onset of type 1 autoimmune hepatitis has a strong genetic influence: role of HLA and KIR genes.
Author: Podhorzer, A.; Paladino, N.; Cuartero, ML.; Fainboim, H.; Paz, S.; Theiler, G.; Capucchio, M.; López, S.; et al.
Abstract: We have previously reported a strong association between HLA-DRB1*1301 and type 1 pediatric autoimmune hepatitis (PAH) and between HLA-DR*0405 and adult autoimmune hepatitis (AAH). Because human killer cell immunoglobulin-like receptors are known to be associated with susceptibility to autoimmune diseases, we investigated the frequencies of HLA-A, B, C, DRB1 and KIR genes in 144 type 1 PAH and 86 AAH patients, which were compared with 273 healthy controls. We demonstrated in PAH the increased frequency of the functional form of KIR2DS4-Full Length (KIR2DS4-FL), which in combination with HLA-DRB1*1301 revealed a strong synergistic effect (odds ratio=36.5). PAH-KIR2DS4-FL+ subjects have shown an increased frequency of their putative HLA-C*02, 04 and 06 ligands. KIR analysis of PAH also revealed a decreased frequency of KIR2DL2 gene and its ligand. In contrast, AAH cases have shown a weaker increased frequency of KIR2DS4-FL, a lack of synergistic effect with HLA class II antigens and a moderate association with HLA-DRB1*0405. Of note, we demonstrated that liver T cells have a unique pattern of KIR expression. These results show a KIR gene involved in autoimmune hepatitis and suggest a stronger genetic influence for the early onset type I autoimmune hepatitis.
URI: https://riu.austral.edu.ar/handle/123456789/754
Date: 2016-02-18


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Genes Immun. 2016 Apr;17(3);187-92..pdf 571.9Kb PDF View/Open IA - Podhorzer

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