Abstract

FORTES, María del Pilar; TASSINARI, Paolo; BLANCA, Isaac  and  MACHADO, Irma. Association of icos (c.1564 T/C) gene poymorphims with autoimmune hepatitis type 1 in Venezuelan mestizo population). Gen [online]. 2013, vol.67, n.4, pp.194-198. ISSN 0016-3503.

Introduction: A characteristic immunopathological event in autoinmune hepatitis (AIH) type 1 is the prolonged activation of Th1 response. Different promoters might predispose to this activation inducing immunotolerance breaking. ICOS is one of these promoters which belong to CD28 family, molecules involved in Th1 and Th2 regulating functions to prevent Th1 longer activation. Objective: To determine gen ICOS (c.1564 T/C) polymorphism in Venezuelan mestizo patients with AIH type 1 and its possible association with clinical expression. Materials and Methods: Seventy patients with AIH type 1 and 121 healthy individuals, both third generation Venezuelan groups, were investigated. Polymorphism determination was performed by polymerase chain reaction (PCR) following by restriction fragments longitudinal polymorphisms (RFLP). Results: The most frequent allele was wild T either in patients and controls, being higher in the second group (60,7% vs. 70,4%; p=0,05; pc=ns OR 1,45 p<0,05). The mutant C allele was observed more in patients than controls (39,3% vs. 29,6%; p=0,05; pc=ns OR 1,45 (p<0,05). In the genotypes frequencies, heterozygote genotypes (T/C) and homozygote mutant allele (C/C) were prevalent in the patient’s group while in the control´s group the wild genotype T/T was the most frequent being these differences significantly to 10% (χ2=5,31;2GL;p=0,07); OR 2,08 (p<0,05). Compared to the T/T genotype group, patients with heterozygote genotype shown higher levels of globulins, IgG and presence of anti-mithocondrial antibodies with a significant difference to 10%. Moreover, presence of antinuclear antibodies was less frequent in the T/C genotype vs. T/T (p<0,10; pc=ns). Conclusion: Heterozygote genotype T/C and homozygote mutant genotype C/C of gen ICOS (c.1564 T/C) with a significantly risk are more frequent in Venezuelan mestizo patients with AIH type 1 than in controls with a significantly risk. This polymorphism is associated with certain immunodiagnostic variables.

Keywords : Autoimmune hepatitis; polymorphisms; gene ICOS; mestizos.

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