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Assessing the relation between some genetic polymorphisms and autoimmune liver diseases in Egyptian patients /

Salma Essam Mohammed Salah Eldin Said

Assessing the relation between some genetic polymorphisms and autoimmune liver diseases in Egyptian patients / تقييم العلاقة بين بعض الاختلافات الجينية الوراثية و الأمراض المناعية للكبد في المرضى المصريين Salma Essam Mohammed Salah Eldin Said ; Supervised Tarek M. Kamal Motawi , Shohda A. Elmaraghy , Sahar Abdelatty Sharaf - Cairo : Salma Essam Mohammed Salah Eldin Said , 2019 - 86 P. : charts , facsimiles ; 25cm

Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry

Background: Autoimmune liver diseases (AILDs) comprise three entities: autoimmune hepatitis (AIH), primary biliary cholangitis and primary sclerosing cholangitis. Although the pathogenesis of pediatric-onset autoimmune hepatitis (pAIH) remains incompletely understood, genetic variants and environmental factors are known to be involved. Caspase recruitment domain family member 10 (CARD10) is a scaffold protein that participates in a complex pathway activating nuclear factor kappa-B (NFmB) and tumor necrosis factor alpha (TNF-Ü). This study aimed to investigate the association of CARD10 rs6000782 (g.37928186A>C) and TNF gene promoter rs1799724 (c.-1037C>T) variants with pAIH susceptibility in a cohort of Egyptian children.The research was also extended to assess the relationship of these variants with levels of NFmB-p65 and TNF-Ü. Subjects and methods:Fifty-sixpAIH patients and 44 age- and sex-matched healthy controls were included. Variant genotyping was performed by polymerase chain reaction (PCR). Serum NFmB-p65 and TNF-Ü levels were measured using enzyme-linked immunosorbent assay (ELISA)



Autoimmune Hepatitis Variants