Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2.

ABSTRACT:

Background

Association analysis identified the homeobox transcription factor, ENGRAILED 2 (EN2), as a possible autism spectrum disorder (ASD) susceptibility gene (ASD [MIM 608636]; EN2 [MIM 131310]). The common alleles (underlined) of two intronic single nucleotide polymorphisms (SNPs), rs1861972 (A/G) and rs1861973 (C/T), are over-transmitted to affected individuals both singly and as a haplotype in three separate datasets (518 families total, haplotype p = .00000035).

Methods

Further support that EN2 is a possible ASD susceptibility gene requires the identification of a risk allele, a DNA variant that is consistently associated with ASD but is also functional. To identify possible risk alleles, additional association analysis and linkage disequilibrium (LD) mapping were pe

SUBMITTER: Benayed R 

PROVIDER: S-EPMC2783416 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature