AimsGenome-wide association studies highlighted single nucleotide polymorphisms (SNPs) within the IFNL3/IL28B locus predict the treatment outcome for patients with HCV. Furthermore, SNPs in newly discovered IFNL4 are shown to have population-specific correlation with spontaneous clearance of HCV. The aim of this study was to examine the prevalence and clinical significance of the outlined SNPs in a population from Central Asia, a multi-ethnic region with a developing economy and a high prevalence of HCV infection.MethodsOne hundred and thirty-five chronic HCV patients from Uzbekistan were enrolled. DNA specimens were extracted from peripheral blood mononuclear cells and the IFNL3 SNPs (rs8099917, rs12979860) were genotyped by the Invader Plus assay, the TaqMan assay, and by direct sequence analysis. The IFL4 region (ss469415590) was sequenced.ResultsOf the 135 patients that completed 24 or 48 weeks of treatment with Peg-IFN-α plus RBV, 87.4% were of Central Asian (CA) ancestry and 12.6% were of Eastern European (EE) ancestry. A non-virological response was observed in 21.2% of CA and in 35.3% of EE, respectively (p<0.32). The rs12979860 was strongly associated with treatment response (OR, 5.2; 95% CI, 1.9–14.6; p<0.004) in the overall sample; however, SNP rs8099917 was the most predictive of outcome for CA group (OR, 6.9; 95% CI, 2.6–18.0; p<0.002). The allele frequency of IFNL4 SNP, ss469415590, was identical with that of rs12979860 in all samples.ConclusionsSNPs in IFNL3 and IFNL4 can be used to predict HCV treatment outcome in a population of Central Asian ancestry.

Introduction: By means of the Association for the Study of complete genome there was identified the prognostic value of polymorphisms associated with single-nucleotide substitutions (SNP) in the human genome and located in the region of the gene IL28B/IFN-L3. Hereafter also there were identified SNP in the gene IFN-L4 and there was found a correlation between the population and the spontaneous elimination of HCV infection. Methods: In the studies there was used the materialfrom 135 HCV-infected persons residing on the territory of Uzbekistan. DNA was isolated from peripheral blood mononuclear cells (PBMC), then SNP genotyping of the IFN-L3 gene region (rs8099917, rs12979860) was performed by means of three methods: Invader Plus Assay, TaqMan Assay and direct sequencing. The plot of the IFN-L4 gene (ss469415590) was sequenced. Results: Out of the 135 studied patients, who received antiviral treatment according to the standard scheme Peg-IFN-a in combination with RBVfor 24 and 48 weeks, 87,4% were belonged to the Central Asian (CA) ethnic group and 12.6% - Eastern European (EE). Among the examined cases, there no virological response to antiviral therapy was observed in 21.2% of patients from CA group and 35.3% of EE patients (p