title: Rs12979860 and rs8099917 single nucleotide polymorphisms of interleukin-28B gene: simultaneous genotyping in caucasian patients infected with hepatitis C virus.
abstract: BACKGROUND
  Recent studies have demonstrated the role of the interleukin 28B (IL28B) polymorphisms in predicting treatment induced and spontaneous clearance from Hepatitis C virus (HCV) infection, suggesting the possibility of tailored therapy in HCV infected patients. Genome-wide association studies have shown that single nucleotide polymorphisms (SNPs) near IL 28B gene on chromosome 19 are strong predictors of sustained virologic response (SVR) to pegylated interferon and ribavirin. This study was aimed at analyzing the co-prevalence of two common and clinically significant SNPs in a cohort of Ligurian patients.
  
  
  METHODS
  Two SNPs (rs12979860, rs8099917) were genotyped in the IL28B locus from 175 DNA samples collected from HCV-infected consecutive patients in a Laboratory of Liguria Region, northern Italy. A real-time polymerase chain reaction in a Corbett Research Termocycler (Rotor Gene 3000A) by fluorescent probes (Fast Set IL 28B, Arrow Diagnostics) was used for the detection, according to the manufacturer's instructions.
  
  
  RESULTS
  Carriers of rs12979860CT genotype predominated (87/175, 50%), homozygotes for allele C were 68/175 (39%) and the remaining were homozygotes for IFN-resistant allele T (11%). As for the rs8099917 SNP, genotypes were thus distributed: 96/175 (55%) carried the rs8099917 TT genotype, whereas 70/175 (40%) and 9/175 (5%), were heterozygotes or homozygotes for the G allele. The variants rs12979860CC and rs8099917TT were found in 39% and 54% of overall patients with HCV genotype 1, respectively. The combined assessment of examined SNPs resulted in three most prevalent genotypes (rs12979860CC/rs8099917TT, rs12979860CT/rs8099917TG and rs12979860CT/rs8099917TT) with a frequency of 35%, 31% and 18%, respectively.
  
  
  CONCLUSIONS
  Recent findings demonstrated that in carriers of rs12979860CT the determination of additional genotype of rs8099917 SNP could significantly improve the prediction of SVR. In our study cohort carriers of rs12979860CT represented 50% of all patients, who could take advantage with respect to SVR prediction by further determination of the rs8099917 SNP. The simultaneous genotyping of two IL28B SNPs should thus be recommended in HCV infected patients prior to treatment initiation.
authors.affiliation: Department of Health Sciences, University of Genoa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Sticchi
authors.affiliation: Infectious Diseases, IRCCS AOU San Martino, Genoa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Di Biagio
authors.affiliation: Department of Health Sciences, University of Genoa, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Rappazzo
authors.affiliation: lnternal Medicine and Clinical Immunology Unit, IRCCS AOU San Martino, IST, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Setti
authors.affiliation: Hygiene Unit, IRCCS AOU San Martino, IST, Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: De Rosa
authors.affiliation: Infectious Diseases, IRCCS AOU San Martino, Genoa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: De Hoffer
authors.affiliation: Infectious Diseases, IRCCS AOU San Martino, Genoa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Nicolini
authors.affiliation: Infectious Diseases, IRCCS AOU San Martino, Genoa, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Prinapori
authors.affiliation: Hygiene Unit, IRCCS AOU San Martino, IST, Genoa, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Bruzzone
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005838:Genotype; D016174:Hepacivirus / Q000235:genetics*; D006526:Hepatitis C / Q000235:genetics*; D006801:Humans; D007372:Interferons; D007378:Interleukins / Q000235:genetics*; D007558:Italy; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D044465:White People / Q000235:genetics*; D000095022:Interferon Lambda
chemical_list: D007372:Interferons; D007378:Interleukins; C000624353:interferon-lambda, human; D000095022:Interferon Lambda