P019 Regional prevalence of IL28B SNPS rs8099917& rs12979860 in general population and in a cohort of chronic liver diseases patients

• Published in: Cytokine (Philadelphia, Pa.) Vol. 59; no. 3; p. 524
• Main Authors: Vassilev, M., Balabanska, R., Andonova, S., Bichev, S., Tzvetanska, A., Tzonev, R., Yurukova, N., Vassileva, J., Spassov, L., Zlatkov, V., Savov, A.
• Format: Journal Article
• Language: English
• Published: Elsevier Ltd 01-09-2012
• Subjects: Chronic infection; Ethnic groups; Gene frequency; Genotypes; Genotyping; Hepatitis B virus; Hepatitis C virus; Liver diseases; Liver transplantation; Polymerase chain reaction; Population genetics; Population studies; Ribavirin; RNA; Single strand conformation polymorphism; Single-nucleotide polymorphism; Statistical analysis
• ISSN: 1043-4666; 1096-0023
• DOI: 10.1016/j.cyto.2012.06.102

The minor IL28b SNPs rs8099917& rs12979860 have been associated with progression to chronic infection and failure of antiviral therapy in HCV patients. Considerable variation in carriage frequencies have been reported in different ethnicities. Our AIM was to study their allele frequency and genotype distribution in our ethnic specific general population and in a cohort of chronic liver diseases patients.
Rs8099917 genotyping was performed by PCR/SSCP analysis; rs12979860 by PCR/RFLP. A total of 255 subjects were studied. The control Group A consisted of 79 randomized and anonymized ethnic DNA bank samples; Group B – 50 chronic HBV patients; Group C – 83 HCV patients; Group D – 43 patients, advanced liver disease and transplanted livers (Ci/Ltx). HCV RNA, HBV DNA and genotyping was done by Roche TaqMan IVD FDA approved RT-PCR.
The allele frequency of rs8099917 in the control group reached Hardy Weinberg equilibrium (HWE); the study population did not. The frequencies of GG,GT and TT genotypes were as follows.
In Group A: 0.05, 0.33, 0.62; in Group B: 0.07, 0.4, 0.54; in Group C: 0.07, 043, 0.33 Group D: 0.05, 0.25, 0.13 respectively. The difference of the allele frequencies was statistically significant for Group A vs. combined (B+C+D), p=0.0071 and for Group A vs. Group D, p=0.0062, two-tailed Fisher’s exact test. Peg-interferon/ribavirin therapy received 28 HCV (genotype G1=25). Of those who completed 48 week therapy, 6 had SVR and 8 were non-responders or relapsers. In the SVR group, G containing genotypes were significantly lower compared to the NR/R group Chi sq.=5.091, P=0.012. For rs12979860 the control group is not yet studied, but the patients group (No=80) was in HWE, with genotype frequency of CC 0.325, CT 0.475, TT 0.2.
The frequency of rs8099917 in healthy individuals in our region is similar to that of Italians from Toscana. The prevalence of the minor/heterozygous genotype in HCV patients was higher as compared to the reported for Spanish, Australian and Swiss populations. Minor allele frequency was greater in the HCV therapy non-responder patients. The rs12979860 genotype frequency in patients with advanced chronic liver disease and liver transplant recipients was similar to the recently reported for Ci/Ltx by Fabris in J.Hepatol.
Fabris C. IL-28B rs12979860 C/T allele distribution in patients with liver cirrhosis: role in the course of chronic viral hepatitis and the development of HCC. J Hepatol 2011;54(4):716–22.