A Pilot Study of FOXP3 Gene (rs2232365, rs3761547, and rs3761548) Mutations in Migraine Patients
Abstract
Background: The role of immune dysfunction in migraine pathogenesis is currently debated. Migraines are common among family members, yet no significant gene polymorphisms have been identified to date. However, our earlier clinical study findings led us to hypothesize that migraine initiation could be influenced by genes that regulate immune function, specifically Forkhead box P3 (FOXP3). To test this hypothesis, we conducted a pilot study targeting FOXP3 Single Nucleotide Polymorphisms (SNPs), commonly associated with other autoimmune conditions in patients with migraine.
Materials and Methods: The minimum sample size required for this study was determined by considering the mean difference in Regulatory T cells (Tregs) reduction reported in previous studies. Twenty participants (10 patients and 10 controls) were recruited for this study. Familial clinical history was collected for pedigree analysis and the samples were tested for the targeted SNPs.
Results: The prevalence of the AG genotype for rs2232365 was 50% among patients and 20% among controls (OR: 4.0, CI: 0.54-29.09, p=0.17). Regarding rs3761547, the AG genotype was observed in 60% of patients and 10% of controls (OR: 13.5, CI: 1.19-152.2, p=0.03), whereas the AC genotype was found in 70% of patients and only 10% of controls (OR: 21.0, CI: 1.77-248.1, p=0.01).
Conclusion: Our preliminary analysis suggested a possible association between FOXP3 variance and migraine predisposition, particularly with the AG and AC genotypes at the rs3761547 and rs3761548 SNPs, respectively. These findings highlight the importance of conducting a more extensive FOXP3 mutation study in a larger cohort of migraine patients