title: Studies on TAQ1 polymorphism in the 3'untranslated region of IL-12P40 gene in HCV patients infected predominantly with genotype 3.
abstract: Host immunity plays an important role in viral persistence and progression of liver disease in HCV infected patients. IL-12 induces production of IFN-gamma, a potent antiviral agent. IL-12 comprises two subunits; IL-p35 and IL-12p40, which are encoded by two different genes located on chromosome 3 and 5, respectively. Single nucleotide polymorphism at A1188C in the 3'UTR of IL-12p40 gene is associated with immune mediated diseases. Association of IL-12p40 A1188C polymorphism with the outcome of HCV infection was investigated in this study. Two hundred and fifty three histologically proven chronic hepatitis C patients (43 +/- 13 years, male:female: 185:68) and 380 matched controls were included. Genotyping was performed by RFLP and confirmed by direct sequencing. To assess correlation of immune gene polymorphism with severity of HCV-related liver disease, patients were divided into those with fibrosis score of < or = 2 (mild) or > 2 (severe), and histological activity index (HAI) of = 5 (mild) or > 5 (severe). The distribution of A/A, A/C or C/C alleles in the controls was comparable to the patients. The distribution of C/C allele was significantly more common in patients with mild as compared to severe fibrosis (23.7% vs. 6.25%, P = 0.004). No significant difference was observed for any of the genetic markers with HAI or with normal or raised alanine aminotransferase (ALT). These results show that the C/C allele of IL-12p40 gene could render genetic protection against development of severe liver disease in patients infected with HCV.
authors.affiliation: Department of Gastroenterology, G.B. Pant Hospital, New Delhi, India.
authors.forename: P V
authors.initials: PV
authors.lastname: Suneetha
authors.forename: A
authors.initials: A
authors.lastname: Goyal
authors.forename: S S
authors.initials: SS
authors.lastname: Hissar
authors.forename: S K
authors.initials: SK
authors.lastname: Sarin
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D016174:Hepacivirus / Q000235:genetics* / Q000502:physiology*; D006526:Hepatitis C / Q000235:genetics*; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D053762:Interleukin-12 Subunit p40; D008103:Liver Cirrhosis / Q000235:genetics / Q000821:virology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D053762:Interleukin-12 Subunit p40; D021122:Protein Subunits; D018664:Interleukin-12