Related Experiment Video
Updated: May 5, 2026

High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
Published on: March 24, 2015
Pharmacogenomics of response to interferon-beta and glatiramer acetate in Multiple Sclerosis: A multi-centric study
Andrea Corona1, Ferdinando Clarelli2, Kimmo Pääkkönen3
1Laboratory of Precision Medicine of Neurological Diseases, Department of Health Science, University of Milan, Milan, Italy; CRC "Aldo Ravelli" for Experimental Brain Therapeutics, Department of Health Science, University of Milan, Milan, Italy.
Background:
Multiple sclerosis (MS) treatment response varies significantly, hindering effective management and necessitating better predictive biomarkers. Pharmacogenomics offers a promising avenue to identify genetic markers that, combined with clinico-demographic predictors, could enhance personalized therapeutic decisions.
Objectives:
This multi-center study investigated genetic determinants of response to interferon-beta (IFN-β) and glatiramer acetate (GA) in European ancestry patients with relapsing-remitting MS (RRMS).
Methods:
After harmonization and quality control, we tested over 6 million genetic variants. We used negative binomial regression, meta-analysis, and gene-set enrichment to link variants, genes, and biological pathways to treatment response.
Results:
In 679 GA and 1614 IFN-β patients, the top GA variant was rs2053696A in MAP3 K1 (p = 3.97*10-9), involved in key signaling pathways. Another significant GA signal was in WWOX. For IFN-β, no genome-wide significant variants were found, but suggestive signals emerged near ZMIZ1, ZCCHC7, and other genes linked to immune function and interferon signaling. Gene-set analysis revealed IL-17 regulation for GA and ion channel pathways for IFN-β.
Conclusion:
This study identified novel genetic variants for GA response, implicating genes in crucial pathways. For IFN-β, suggestive signals point to immune and interferon-related genes. These findings enhance our understanding of genetic influences on RRMS treatment response, while highlighting pharmacogenomic research challenges.
Related Concept Videos
Factors Affecting Drug Response: Overview
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenomics: Identification of New Drug Targets

