Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Volume 147B, Issue 2, Pages 187-193Publisher
WILEY
DOI: 10.1002/ajmg.b.30585
Keywords
autism spectrum disorder; Engrailed-2 (EN2); genetic association
Categories
Funding
- NCRR NIH HHS [M01-RR00064] Funding Source: Medline
- NICHD NIH HHS [U19HD35466, U19HD035476, U191HD34565] Funding Source: Medline
- NIMH NIH HHS [R01 MH069359] Funding Source: Medline
Ask authors/readers for more resources
Autism is a neurodevelopmental disorder characterized by an early onset of abnormal social, communicative, and repetitive behavior. Engrailed-2 (EN2) was identified as an autism candidate gene because its influence on cerebellar development in mice parallels neurodevelopmental abnormalities seen in individuals with autism. Studies investigating association between markers at EN2 (chr7q36), a location associated with language disorders, and autism reveal mixed findings. Two positive reports revealed association with two intronic SNPs. Since the associated SNPs were in high linkage disequilibrium and shared similar minor allele frequencies, we chose to test whether one of the SNPs (rs1861972) was associated with autism in three recruiting sites from the NIH Collaborative Programs of Excellence in Autism (CPEA) network. A recessive model revealed significant association with broad autism spectrum disorder. Site specific analyses indicated differential allele transmission by site, despite similar ethnicity, and parental genotypes, suggesting the SNP may contribute to various risk haplotypes. No significant association with autism was found under an additive model for either a broad (autism spectrum disorder) or a narrow (autistic disorder) diagnostic group. Although our findings were not as robust as the previous studies, they suggest that rs1861972 may influence the risk for autism spectrum disorders. Future studies investigating EN2 should consider how the association of variants in this gene with autism could be influenced by differences in phenotype and possible interactions with genotypes at other autism candidate genes. Published 2007 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available