Related Experiment Video

Updated: Mar 10, 2026

Author Spotlight: Creating a Versatile Experimental Autoimmune Encephalomyelitis Model Relevant for Both Male and Female Mice
05:44

Author Spotlight: Creating a Versatile Experimental Autoimmune Encephalomyelitis Model Relevant for Both Male and Female Mice

Published on: October 13, 2023

2.6K

Genetic and environmental mediators of multiple sclerosis susceptibility but not early severity run in families

Cato E A Corsten1, Ana M Marques2, Yifan van Hasselt2

  • 1Department of Neurology, MS Center ErasMS, Erasmus MC University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.

Multiple Sclerosis and Related Disorders
|March 8, 2026
PubMed
Abstract

Insights

Familial multiple sclerosis (MS) is linked to genetic susceptibility, low vitamin D, and high BMI, but does not affect the early disease course after clinically isolated syndrome (CIS). These factors influence MS risk, not progression.

Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Multiple sclerosis (MS) risk involves genetic and environmental factors.
  • Familial aggregation of MS is known, but its impact on early disease progression after clinically isolated syndrome (CIS) remains unclear.

Purpose of the Study:

  • To investigate the association of familial MS with genetic and environmental risk factors.
  • To examine the relationship between familial MS and the clinical presentation and disease course following CIS.

Main Methods:

  • A prospective cohort study of CIS participants within six months of symptom onset.
  • Assessment of family history, weighted genetic risk scores (wGRS) for MS, 25-hydroxyvitamin D (25(OH)D), body mass index (BMI), HLA-DRB1*15:01, and anti-Epstein Barr virus Nuclear Antigen-1 (anti-EBNA1) IgG.
  • Cox regression analysis to estimate associations with disease course.

Main Results:

  • Familial MS was reported by 19.5% of participants and associated with higher MS susceptibility wGRS and HLA-DRB1*15:01 carriership.
  • Participants with first-degree relatives with MS showed wGRS for lower 25(OH)D and higher adult BMI.
  • No significant differences in anti-EBNA1 IgG, 25(OH)D levels, baseline characteristics, or disease severity were observed between familial and non-familial MS groups.

Conclusions:

  • Familial MS is linked to increased genetic susceptibility, lower vitamin D, and higher BMI.
  • These factors are associated with MS risk but not with the early disease course after CIS.
  • MS susceptibility and disease course appear to be influenced by distinct pathophysiological pathways.
Keywords:
Clinically isolated syndromeFamilial aggregationGenetic riskMultiple sclerosisRisk factorsVitamin D

More Related Videos

Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis06:19

Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis

Published on: September 9, 2022

4.8K
Author Spotlight: Novel Assay for Studying B-Cell Responses in Multiple Sclerosis Research05:55

Author Spotlight: Novel Assay for Studying B-Cell Responses in Multiple Sclerosis Research

Published on: December 1, 2023

1.4K

Related Concept Videos

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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...
80
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.8K
Gene-Environment Interactions01:20

Gene-Environment Interactions

Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
1.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.3K
Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
737
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
7.9K