Genome-wide association study identifies a PSMD3 variant associated with neutropenia in interferon-based therapy for chronic hepatitis C

Hum Genet. 2015 Mar;134(3):279-89. doi: 10.1007/s00439-014-1520-7. Epub 2014 Dec 17.

Abstract

Cytopenia during interferon-based (IFN-based) therapy for chronic hepatitis C (CHC) often necessitates reduction of doses of drugs and premature withdrawal from therapy resulting in poor response to treatment. To identify genetic variants associated with IFN-induced neutropenia, we conducted a genome-wide association study (GWAS) in 416 Japanese CHC patients receiving IFN-based therapy. Based on the results, we selected 192 candidate single nucleotide polymorphisms (SNPs) to carry out a replication analysis in an independent set of 404 subjects. The SNP rs2305482, located in the intron region of the PSMD3 gene on chromosome 17, showed a strong association when the results of GWAS and the replication stage were combined (OR = 2.18, P = 3.05 × 10(-7) in the allele frequency model). Logistic regression analysis showed that rs2305482 CC and neutrophil count at baseline were independent predictive factors for IFN-induced neutropenia (OR = 2.497, P = 0.0072 and OR = 0.998, P < 0.0001, respectively). Furthermore, rs2305482 genotype was associated with the doses of pegylated interferon (PEG-IFN) that could be tolerated in hepatitis C virus genotype 1-infected patients treated with PEG-IFN plus ribavirin, but not with treatment efficacy. Our results suggest that genetic testing for this variant might be useful for establishing personalized drug dosing in order to minimize drug-induced adverse events.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Antiviral Agents / adverse effects*
  • Antiviral Agents / therapeutic use
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Hepatitis C, Chronic / drug therapy*
  • Humans
  • Interferon-alpha / adverse effects*
  • Interferon-alpha / therapeutic use
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Neutropenia / chemically induced
  • Neutropenia / genetics*
  • Polyethylene Glycols / adverse effects*
  • Polyethylene Glycols / therapeutic use
  • Polymorphism, Single Nucleotide
  • Proteasome Endopeptidase Complex / genetics*
  • Recombinant Proteins / adverse effects
  • Recombinant Proteins / therapeutic use

Substances

  • Antiviral Agents
  • Interferon-alpha
  • Recombinant Proteins
  • Polyethylene Glycols
  • Proteasome Endopeptidase Complex
  • proteasome activator PA700 subunit p58, human
  • peginterferon alfa-2a