Related Experiment Video
Updated: Jan 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Meta-analysis of FOXP3 gene rs3761548 and rs2232365 polymorphism and multiple sclerosis susceptibility
Yijian Zhang1,2, Junxin Zhang1,2, Hao Liu1,2
1Department of Orthopedics, The First Affiliated Hospital of Soochow University.
Background:
Multiple sclerosis (MS) is a common autoimmune disease of the central nervous system (CNS), and is associated with genetic factors. FOXP3 gene polymorphism has been reported as the risk factor for MS, however, previous studies have showed conflicting results. The purpose of this study is to investigate the association between FOXP3 gene polymorphism and the susceptibility to MS.
Methods:
Pubmed, Embase, library of Cochrane, and Web of Science were used to search the eligible articles from January 1980 up to October 2018. The odds ratio (ORs) and its 95% confidence intervals (CI) were used to evaluate the strength of association. Allele model, homozygote model, heterozygote model, dominant model, and recessive model were used to evaluate the association between FOXP3 gene polymorphism and MS.
Results:
A total of 5 studies contained 1276 MS patients and 1447 controls (for rs3761548) and 600 MS patients and 640 controls (for rs2232365) were enrolled in this meta-analysis. The association showed significant differences in allele and dominant model for rs3761548 polymorphism. In addition, a clear tendency to significance was detected in homozygote and recessive model for rs3761548 (P = .052). Subgroup analysis indicated a significant risk of MS in all genotype models but heterozygotes in Asians.
Conclusion:
FOXP3 gene polymorphism rs3761548 was associated with a higher MS risk, especially in Asians. This conclusion needs to be validated in more large samples and multiracial studies.
Level Of Evidence:
Level III diagnostic study.
Insights
The FOXP3 gene polymorphism rs3761548 is linked to an increased risk of multiple sclerosis (MS), particularly in Asian populations. Further large-scale, multiracial studies are needed for confirmation.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Multiple sclerosis (MS) is an autoimmune CNS disease with genetic links.
- FOXP3 gene polymorphism is a potential MS risk factor, but findings are conflicting.
Purpose of the Study:
- To investigate the association between FOXP3 gene polymorphism and MS susceptibility.
Main Methods:
- Systematic literature search of PubMed, Embase, Cochrane Library, and Web of Science (1980-2018).
- Meta-analysis using odds ratios (ORs) and 95% confidence intervals (CIs).
- Evaluation of association using allele, homozygote, heterozygote, dominant, and recessive models.
Main Results:
- Meta-analysis included 5 studies (1276 MS patients, 1447 controls for rs3761548; 600 MS patients, 640 controls for rs2232365).
- Significant association found for rs3761548 in allele and dominant models.
- Subgroup analysis revealed significant MS risk in Asians across most genotype models.
Conclusions:
- FOXP3 rs3761548 polymorphism is associated with higher MS risk, especially in Asians.
- Further validation in larger, multiracial studies is recommended.
More Related Videos
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

