Genetic polymorphism of IL28B in hepatitis C‐infected haemophilia patients in Israel. (23rd August 2012)

• Record Type: Journal Article
• Authors: Maor, Y.; Morali, G.; Bashari, D.; Pénaranda, G.; Schapiro, J. M.; Martinowitz, U.; Halfon, P.
• Is Part Of: Haemophilia. Volume 19:Number 1(2013:Jan.)
• Page Start: 150
• Page End: 156
• Publication Date: 2012-08-23
• Subjects: Hemophilia -- Periodicals; 616.1572005
• DOI: 10.1111/j.1365-2516.2012.02932.x
• Languages: English
• ISSNs: 1351-8216

Abstract

<abstract abstract-type="main" id="hae2932-abs-0001"> <title>Summary</title> <p>Single‐nucleotide polymorphisms (SNPs) near the <italic>IL28B</italic> gene were identified as major predictors of treatment response (sustained virologic response – SVR) and spontaneous clearance of HCV. Haemophilia patients have the highest prevalence of HCV, and are a unique target for genetic studies. The Israeli population is ethnically heterogeneous; therefore, genetic variability is anticipated. To determine the <italic>IL28B</italic> haplotypes in HCV‐infected haemophilia patients and association with SVR and spontaneous viral clearance. <italic>IL28B</italic> polymorphism at SNPs <ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs12979860?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs12979860</ext-link> and <ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs8099917?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs8099917</ext-link> was determined in sera obtained from 130 HCV‐infected haemophilia patients. The frequency of the various haplotypes was analysed according to treatment response, spontaneous HCV clearance, viral load and degree of fibrosis. The CC haplotype at SNP <ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs12979860?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs12979860</ext-link> was found in 31% of patients, whereas the TT genotype at SNP <ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs8099917?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs8099917</ext-link> was detected in 57% of cases. SVR was achieved in 70% of patients carrying the CC haplotype (<italic>P </italic>=<italic> </italic>0.0196 vs. CT/TT), and 50% of the TT genotype at SNP <ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs8099917?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs8099917</ext-link> (<italic>P </italic>=<italic> </italic>0.0227 vs. TG/GG). Thirty‐five percent of patients carrying the CC haplotype and 26% with the TT genotype at SNP <ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs8099917?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs8099917</ext-link> showed spontaneous clearance of HCV infection (<italic>P </italic>=<italic> </italic>0.00262 vs. CT/TT; and <italic>P </italic>=<italic> </italic>0.00371 vs. TG/GG respectively). The C‐allele frequency was exceptionally high (71%) in immigrants from the Asian republics of Russia. In HCV‐infected haemophilia patients, SVR was more commonly achieved among patients who had the CC (<ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs12979860?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs12979860</ext-link>) or TT (<ext-link ext-link-type="gen" xlink:href="http://www.ncbi.nlm.nih.gov/nuccore/rs8099917?report=GenBank" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">rs8099917</ext-link>) genotype. Likewise, patients who possess harbour the CC or TT genotypes were more likely to clear HCV infection spontaneously. A unique distribution of the CC genotype was observed in some ethnic groups.</p> </abstract>