Association of STAT4, TGFß1, SH2B3 and PTPN22 polymorphisms with autoimmune hepatitis.
Exp Mol Pathol
; 105(3): 279-284, 2018 12.
Article
em En
| MEDLINE
| ID: mdl-30291855
ABSTRACT
The physiopathology of autoimmune hepatitis (AIH) is complex and still not fully elucidated. The genes localized outside the histocompatibility complex involved in regulation and signal transduction of the immune system SH2B3, TGFß1, STAT4 and PTPN22 could be associated to the susceptibility and hepatocyte lysis mechanism of this lethal autoimmune disorder. PATIENTS AND METHODS:
We investigated four polymorphic sites in SH2B3 (rs3184504), TGFß1 (rs1800471), STAT4 (rs7574865) and PTPN22 (rs2476601) in 45 AIH patients and 150 healthy controls from Tunisia using real-time PCR.RESULTS:
Significant associations were found for SH2B3 T allele (ORâ¯=â¯1.861; pâ¯=â¯0.015, pcâ¯=â¯0.366) and PTPN22 A allele (ORâ¯=â¯7.070; pâ¯=â¯0.026; pcâ¯=â¯1.00) and AIH with opposite homozygous being protective against the disease (CC genotype with ORâ¯=â¯0.420, pâ¯=â¯0.025; GG genotype with ORâ¯=â¯0.136, pâ¯=â¯0.025, respectively). No statistically significant associations were found for the TGFß1 and STAT4 polymorphisms with AIH susceptibility.CONCLUSION:
Our work enlarges information on non-HLA genes that are associated with AIH by focusing in a region of the world that was poorly molecularly characterized for this disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
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Hepatite Autoimune
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Proteína Tirosina Fosfatase não Receptora Tipo 22
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article