FOXP3 gene variations and susceptibility to autism: A case–control study

Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD. •We studied possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD.•We showed significant overpresentation of rs2232365-G allele in cases versus controls.•The rs2232365 GG genotype was associated with ASD in dominant inheritance model.•Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD.