GENE ALS DIAGNOSTISCHE WERKZEUGE FÜR AUTISMUS

摘要

The homeobox transcription factor, ENGRAILED 2 EN2), was investigated for association with autism spectrum disorder (AS) by performing transmission/disequilibrium tests (TDT) for two SNPs (rs1861972 and rs1861973) and was identified as being a likely susceptibility locus for autism and related AS disorders. Initially, TDT was performed using 137 triads of autistic individuals and their parents and significant overtransmission of the A allele of rs1861972 and the C allele or rs1861973 was observed. The analysis was then extended to include other affected and unaffected siblings as well as additional families. Significant association was observed for both SNPs under both the broad and narrow diagnostic schemes.