Support for the Homeobox Transcription Factor Gene ENGRAILED 2 as an Autism Spectrum Disorder Susceptibility Locus

• Published in: American journal of human genetics Vol. 77; no. 5; pp. 851 - 868
• Main Authors: Benayed, Rym, Gharani, Neda, Rossman, Ian, Mancuso, Vincent, Lazar, Gloria, Kamdar, Silky, Bruse, Shannon E., Tischfield, Samuel, Smith, Brett J., Zimmerman, Raymond A., DiCicco-Bloom, Emanuel, Brzustowicz, Linda M., Millonig, James H.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.11.2005; University of Chicago Press; Cell Press; American Society of Human Genetics
• Subjects: Autism; Autistic Disorder - genetics; Autistic Disorder - physiopathology; Biological and medical sciences; Cell Culture Techniques; Child clinical studies; Developmental disorders; Gene expression; Gene Expression Regulation, Developmental; Gene loci; General aspects. Genetic counseling; Genes; Genetic Predisposition to Disease; Genetics; Haplotypes; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Homeodomain Proteins - physiology; Humans; Infantile autism; Introns - genetics; Linkage Disequilibrium; Medical genetics; Medical sciences; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Pedigree; Polymorphism, Single Nucleotide; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Human; Nervous system diseases; Pathogenesis; Developmental disorder; Genetic determinism; Spectrum; Autism; Sensitivity; Homeotic gene; Predisposition; Genetics; Transcription factor; Neurological disorder

Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD). In this...