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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Multiple Sclerosis l: Introduction

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Related Experiment Videos

Immune-Related Gene Variants as Modifiers of Multiple Sclerosis Severity.

Olga Kulakova1, Natalia Baulina1, Maxim Kozin1

  • 1Laboratory of Medical Genomics, Pirogov Russian National Research Medical University, Moscow 117997, Russia.

International Journal of Molecular Sciences
|June 26, 2026
PubMed
Summary

Genetic variants in immune genes influence multiple sclerosis (MS) severity. Specific gene variants impact MS progression differently in men and women, offering insights into disease heterogeneity and prognosis.

Keywords:
MSSSgenetic polymorphismimmune-related genesmultiple sclerosisneuroinflammationseverity

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Area of Science:

  • Immunology
  • Genetics
  • Neurology

Background:

  • Multiple sclerosis (MS) is a complex autoimmune disease affecting the central nervous system.
  • The polygenic nature of MS contributes to its significant clinical heterogeneity.
  • Identifying genetic factors influencing MS phenotype is crucial for prognosis and understanding disease mechanisms.

Purpose of the Study:

  • To investigate the association between polymorphic variants in immune-related genes and MS severity.
  • To explore potential genetic predictors of clinical heterogeneity in MS.
  • To identify genetic modifiers of disease progression in a Russian cohort of MS patients.

Main Methods:

  • Retrospective genetic association study.
  • Analysis of 35 polymorphic variants in immune-related genes.
  • Assessment of MS severity using the Multiple Sclerosis Severity Score (MSSS) in 548 treatment-naïve patients.

Main Results:

  • Variants in CXCR5, EOMES, TNFRSF1A, IRF8, PVT1, CCR5, HLA-DRB1, IL6, TCF7, and CD40 genes were associated with MS severity.
  • CCR5, HLA-DRB1, and IL6 variants showed sex-specific associations with MSSS in women.
  • TCF7 and CD40 variants were associated with MSSS only in men, while CXCR5 variants showed associations in both sexes and the overall cohort.

Conclusions:

  • Several genes previously identified as MS risk factors, along with other immune loci, modify the MS phenotype.
  • Genetic variations can influence MS severity and progression, with some exhibiting sex-specific effects.
  • These findings contribute to understanding MS heterogeneity and may aid in developing precise prognostic tools.