Document Detail


IFN-beta pharmacogenomics in multiple sclerosis.
MedLine Citation:
PMID:  20712530     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Multiple sclerosis (MS) is a condition of the CNS marked by inflammation and neurodegeneration. Interferon (IFN)-beta was the first, and still is the main, immunomodulatory treatment for MS. Its clinical efficacy is limited, and a proportion of patients, ranging between 20-55%, do not respond to the therapy. Identification and subsequently, implementation in the clinic of biomarkers predictive for individual therapeutic response would facilitate improved patient care in addition to ensuring a more rational provision of this therapy. In this article, we summarize the main findings from studies addressing the pharmacogenomics of clinical response to IFN-beta in MS by either whole-genome association scans, candidate gene or transcriptomics studies. Whole-genome DNA association screens have revealed a high representation of brain-specific genes, and have hinted toward both extracellular ligand-gated ion channels and type I IFNs pathway genes as important categories of genetic IFN-beta response modifiers. One hit, glypican 5 (GPC5), was recently replicated in an independent study of IFN-beta responsiveness. Recent RNA transcriptomics studies have revealed the occurrence of a pre-existing type I IFN gene-expression signature, composed of genes that are predominantly induced by type I IFNs, as a potential contributing feature of poor response to therapy. Thus, while the outlines of a complex polygenic mechanism are gradually being uncovered, the main challenges for the near future will reside in the robust validation of identified response-modifying genes as well as in the decipherment of the mechanistic relationships between these genes and clinical response to IFN-beta.
Authors:
Koen Vandenbroeck; Elena Urcelay; Manuel Comabella
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Pharmacogenomics     Volume:  11     ISSN:  1744-8042     ISO Abbreviation:  Pharmacogenomics     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-08-17     Completed Date:  2010-12-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100897350     Medline TA:  Pharmacogenomics     Country:  England    
Other Details:
Languages:  eng     Pagination:  1137-48     Citation Subset:  IM    
Affiliation:
Neurogenomiks Group, Universidad del País Vasco (UPV/EHU), Leioa, Spain. k.vandenbroeck@ikerbasque.org
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MeSH Terms
Descriptor/Qualifier:
Gene Expression Profiling
Glypicans / genetics
Humans
Interferon Type I / genetics
Interferon Type I, Recombinant / therapeutic use*
Multiple Sclerosis* / drug therapy,  genetics
Pharmacogenetics*
Polymorphism, Single Nucleotide
Chemical
Reg. No./Substance:
0/GPC5 protein, human; 0/Glypicans; 0/Interferon Type I; 0/Interferon Type I, Recombinant

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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