Related Experiment Video

Updated: Feb 21, 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

2.5K

Genetic risk factors for pediatric-onset multiple sclerosis

Milena A Gianfrancesco1, Pernilla Stridh2, Xiaorong Shao1

  • 1Division of Epidemiology, School of Public Health, University of California, Berkeley, Berkeley, CA, USA.

Multiple Sclerosis (Houndmills, Basingstoke, England)
|October 6, 2017
PubMed

Insights

Genetic factors significantly influence pediatric-onset multiple sclerosis (POMS). Many adult multiple sclerosis (MS) risk variants are also linked to POMS, indicating shared genetic underpinnings between pediatric and adult forms of the disease.

Area of Science:

  • Genetics
  • Immunology
  • Neurology

Background:

  • Pediatric-onset multiple sclerosis (POMS) is influenced by both genetic and environmental factors.
  • Understanding the genetic basis of POMS is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the association between established adult multiple sclerosis (MS) risk variants and susceptibility to POMS.
  • To compare the genetic risk profiles of POMS cases with adult MS cases.

Main Methods:

  • Utilized logistic regression and meta-analyses on data from 569 POMS cases and 16,251 controls from the US and Sweden.
  • Assessed individual risk variants and a weighted genetic risk score (wGRS) for non-MHC variants.
  • Compared results with 7,588 adult MS cases.

Main Results:

  • The HLA-DRB1*15:01 variant showed a strong association with POMS (ORmeta = 2.95).
  • 28% of non-MHC variants were associated with POMS, with a higher average burden in POMS cases compared to adult MS cases.
  • The wGRS was strongly associated with POMS (ORmeta = 2.77), and additional MHC risk variants were identified.

Conclusions:

  • Pediatric and adult MS share numerous genetic variants, suggesting similar underlying biological mechanisms.
  • Genetic factors beyond HLA-DRB1*15:01 and HLA-A*02 in the MHC region are also associated with POMS susceptibility.
Abstract

Keywords:
Multiple sclerosisepidemiologygeneticspediatrics

More Related Videos

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
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.6K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
90.1K
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...
1.7K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
109.6K
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
754
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...
24
Cancer Prevention02:59

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
8.2K