title: Copy number variation of genes involved in the hepatitis C virus-human interactome.
abstract: Copy number variation (CNV) is a newly discovered form of intra-species genetic polymorphism that is defined as deletions or duplications of genome segments ranging from 1 kbp to several Mbp. CNV accounts for the majority of the genetic variation observed in humans (CNV regions cover more than 10% of the human genome); therefore, it may significantly influence both the phenotype and susceptibility to various diseases. Unfortunately, the impact of CNV on a number of diseases, including hepatitis C virus (HCV) infection, remains largely unexplored. Here, we analyzed 421 human genes encoding proteins that have been shown to interact with HCV proteins or genomic RNA (proteins from the HCV-human interactome). We found that 19 of the 421 candidate genes are located in putative CNV regions. For all of these genes, copy numbers were determined for European, Asiatic and African populations using the multiplex ligation-dependent amplification (MLPA) method. As a result, we identified 4 genes, IGLL1, MLLT4, PDPK1, PPP1R13L, for which the CN-genotype ranged from 1 to 6. All of these genes are involved in host-virus interaction; thus, their polymorphism has a potential impact on the development of HCV infection and/or therapy outcome.
authors: Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
authors: Lucyna
authors: L
authors: Budzko
authors: Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
authors: Malgorzata
authors: M
authors: Marcinkowska-Swojak
authors: Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.|Institute of Chemical Technology and Engineering, Poznan University of Technology, Poznan, Poland.
authors: Paulina
authors: P
authors: Jackowiak
authors: Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.|Institute of Chemical Technology and Engineering, Poznan University of Technology, Poznan, Poland.
authors: Piotr
authors: P
authors: Kozlowski
authors: Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.|Institute of Computing Science, Poznan University of Technology, Poznan, Poland.
authors: Marek
authors: M
authors: Figlerowicz
mesh_terms: D064413:3-Phosphoinositide-Dependent Protein Kinases / Q000235:genetics / Q000378:metabolism; D019295:Computational Biology / Q000379:methods; D056915:DNA Copy Number Variations; D053263:Gene Regulatory Networks; D016174:Hepacivirus / Q000378:metabolism / Q000502:physiology*; D006526:Hepatitis C / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D054884:Host-Pathogen Interactions; D006801:Humans; D054444:Immunoglobulin Light Chains, Surrogate / Q000235:genetics / Q000378:metabolism; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism; D016547:Kinesins / Q000235:genetics / Q000378:metabolism; D009218:Myosins / Q000235:genetics / Q000378:metabolism; D044469:Racial Groups / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism; D014764:Viral Proteins / Q000378:metabolism
chemical_list: C095516:AFDN protein, human; C515635:IGLL1 protein, human; D054444:Immunoglobulin Light Chains, Surrogate; D047908:Intracellular Signaling Peptides and Proteins; C119612:PPP1R13L protein, human; D012097:Repressor Proteins; D014764:Viral Proteins; D064413:3-Phosphoinositide-Dependent Protein Kinases; C578562:PDPK1 protein, human; D009218:Myosins; D016547:Kinesins