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A genetic variant, rs9828519 in SLC9A9, is linked to nonresponse to interferon-beta treatment in multiple sclerosis (MS) patients. This finding may help personalize MS treatment by identifying non-responders early.

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Area of Science:

  • Genetics
  • Immunology
  • Pharmacogenomics

Background:

  • Multiple sclerosis (MS) patients can experience disease activity despite treatment.
  • Early identification of effective drugs is crucial for personalized medicine and improved long-term outcomes in MS.
  • Biomarker discovery is needed to understand MS pathophysiology and treatment response.

Purpose of the Study:

  • To identify biomarkers for clinical development in MS.
  • To gain insights into the pathophysiology of MS disease activity.
  • To discover genetic factors influencing response to interferon-beta (IFNβ) treatment in MS.

Main Methods:

  • Genome-wide association study (GWAS) in IFNβ-treated MS patients.
  • Validation of genetic variants in three independent cohorts.
  • Functional analysis of the target gene SLC9A9 using RNA datasets and in vitro T cell experiments.

Main Results:

  • A significant association was found between the genetic variant rs9828519(G) and nonresponse to IFNβ.
  • The gene SLC9A9 is located within the linkage disequilibrium block of rs9828519.
  • Reduced SLC9A9 mRNA expression in MS patients correlated with increased relapse rates, and its knockdown in T cells increased pro-inflammatory IFNγ.

Conclusions:

  • The study identified and validated rs9828519, an intronic variant in SLC9A9, associated with IFNβ treatment response in MS patients.
  • SLC9A9, an endosomal Na(+) -H(+) exchanger, influences T cell differentiation towards a pro-inflammatory state.
  • SLC9A9 may play a broader role in MS disease activity beyond IFNβ treatment, offering potential as a therapeutic target.