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  • Title: TNF-alpha polymorphisms in primary biliary cirrhosis: a northern and southern Italian experience.
    Author: Niro GA, Poli F, Andriulli A, Bianchi I, Bernuzzi F, Caliari L, Fontana R, Gioffreda D, Valvano MR, Podda M, Invernizzi P.
    Journal: Ann N Y Acad Sci; 2009 Sep; 1173():557-63. PubMed ID: 19758199.
    Abstract:
    Specific HLA alleles and immunoregulatory genes have been evaluated in primary biliary cirrhosis (PBC), but data are discordant. We determined whether TNF-alpha promoter polymorphisms (G-308A and G-238A) and alleles of HLA class II (HLA-DRB1) might be associated either with PBC occurrence and severity in Italian populations from two distinct areas. The distribution of TNF1 (G/G) genotype did not differ either between patients and controls or between patients from Northern and Southern Italy. Contrariwise, the HLA-DRB1*08 appeared positively linked to the occurrence of disease (8.4% in patients vs. 2.5% in controls, P = 0.003), whereas the HLA-DRB1*13 appeared to be protective, being more frequent in controls (12.8%) than in patients (7%) (P = 0.038). Neither positively nor negatively associated alleles of the two genomic loci had an effect on disease progression. We report a distinct genetic risk of developing PBC in the Italian population, with no interaction between the HLA and TNF alleles.
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