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Related Concept Videos

T Cell Types and Functions01:24

T Cell Types and Functions

When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

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Related Experiment Video

Updated: Jul 15, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution.

Luca Castelli1, Cristoforo Comi, Annalisa Chiocchetti

  • 1Interdisciplinary Research Center of Autoimmune Diseases and Department of Medical Sciences, "A. Avogadro" University of Eastern Piedmont, Novara, Italy.

Journal of Neuroimmunology
|May 8, 2007
PubMed
Summary

Genetic variations in the ICOS gene influence T cell function and IL10 secretion. AA homozygosity was linked to reduced multiple sclerosis (MS) risk and severity in patients with relapsing-remitting MS.

Related Experiment Videos

Last Updated: Jul 15, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Immunology
  • Genetics
  • Neuroimmunology

Background:

  • Inducible T cell costimulator (ICOS) is a crucial molecule in T cell regulation and immune responses.
  • Variations in the ICOS gene's 3' untranslated region (3'UTR) may affect its function and influence disease susceptibility.
  • Interleukin-10 (IL10) is a key immunosuppressive cytokine involved in immune homeostasis and disease pathogenesis.

Purpose of the Study:

  • To investigate the association between ICOS gene polymorphisms and multiple sclerosis (MS).
  • To determine the functional impact of ICOS gene variations on T cell activation and IL10 secretion.
  • To evaluate the correlation between specific ICOS haplotypes and MS clinical characteristics, including disease onset and severity.

Main Methods:

  • Genotyping of 8 single nucleotide polymorphisms (SNPs) within the ICOS gene 3'UTR to identify three distinct haplotypes (A, B, C).
  • Functional analysis of activated T cells from healthy individuals with different ICOS genotypes (AA, AC, AB) to measure ICOS expression and IL10 secretion.
  • Case-control study comparing the frequency of ICOS genotypes and haplotypes in 441 MS patients and 793 healthy controls.
  • Statistical analysis to assess the association between ICOS genotypes and MS subtypes, relapse rates, and the Multiple Sclerosis Severity Score (MSSS).

Main Results:

  • Haplotype analysis revealed significant differences between Haplotype-A and -C.
  • Healthy individuals with AA homozygosity showed lower ICOS expression and higher IL10 secretion compared to AC heterozygotes.
  • The frequency of AA homozygosity was significantly lower in relapsing-remitting MS patients (N=416) compared to controls (Odds Ratio = 0.70).
  • AA patients with relapsing-remitting MS exhibited a lower relapse rate and lower MSSS compared to non-AA patients.

Conclusions:

  • Specific ICOS gene polymorphisms, particularly the AA genotype, are associated with a reduced risk of developing relapsing-remitting MS.
  • The AA genotype may confer a protective effect against MS by modulating T cell costimulation and IL10 production.
  • ICOS genotype may serve as a potential biomarker for predicting MS disease activity and severity.