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.

Medicine
|October 1, 2019
PubMed
Abstract

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.