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Updated: Aug 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Association between LAG3/CD4 Genes Variants and Risk for Multiple Sclerosis
Elena García-Martín1, José A G Agúndez1, Javier Gómez-Tabales1
1University Institute of Molecular Pathology Biomarkers, Universidad de Extremadura, ARADyAL Instituto de Salud Carlos III, E10003 Cáceres, Spain.
This study found no association between specific CD4 and Lymphocyte Activation Gene 3 (LAG3) gene variants and the risk of developing multiple sclerosis (MS) in the Spanish Caucasian population. These findings do not support LAG3
Area of Science:
- Immunogenetics
- Neuroimmunology
- Human Genetics
Background:
- Lymphocyte Activation Gene 3 (LAG3) protein involvement in multiple sclerosis (MS) inflammation is suggested.
- Previous studies on the association between LAG3 gene variants and MS risk remain inconclusive.
Purpose of the Study:
- To investigate the association between common single nucleotide variants (SNVs) in the CD4 and LAG3 genes and the risk of MS.
- To analyze the influence of these SNVs on MS characteristics such as age at onset, severity, and clinical subtypes.
Main Methods:
- Genotyping of CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 using TaqMan-based qPCR assays.
- Study included 300 MS patients and 400 healthy controls from the Caucasian Spanish population.
- Analysis of genotype frequencies in relation to MS risk, clinical parameters, and HLADRB1*1501 genotype.
Main Results:
- No significant association was found between the studied CD4 and LAG3 SNVs (rs1922452, rs951818, rs870849) and the risk of MS.
- The frequencies of these genotypes and allelic variants were unrelated to gender, age at onset, MS severity, clinical subtype, or HLADRB1*1501 genotype.
Conclusions:
- The investigated CD4 and LAG3 single nucleotide variants do not appear to contribute to MS susceptibility in the Caucasian Spanish population.
- Further research may be needed to explore other genetic factors or pathways involved in MS pathogenesis.
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