title: FOXP3 gene variations and susceptibility to autism: A case-control study.
abstract: 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.
authors.affiliation: Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Safari
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Rezvan
authors.initials: R
authors.lastname: Noroozi
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Arezou
authors.initials: A
authors.lastname: Sayad
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
authors.affiliation: Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Komaki
authors.affiliation: Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
authors.forename: Mohammad Mahdi
authors.initials: MM
authors.lastname: Eftekharian
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: Mohammad_823@yahoo.com.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Taheri
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007492:Iran; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors
keywords: Autism Spectrum Disorders; FOXP3; Immunity; Polymorphism