RGD Reference Report - Association of common variants in the Joubert syndrome gene (AHI1) with autism. - Rat Genome Database

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Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Authors: Alvarez Retuerto, AI  Cantor, RM  Gleeson, JG  Ustaszewska, A  Schackwitz, WS  Pennacchio, LA  Geschwind, DH 
Citation: Alvarez Retuerto AI, etal., Hum Mol Genet. 2008 Dec 15;17(24):3887-96. doi: 10.1093/hmg/ddn291. Epub 2008 Sep 9.
RGD ID: 11537389
Pubmed: PMID:18782849   (View Abstract at PubMed)
PMCID: PMC2638573   (View Article at PubMed Central)
DOI: DOI:10.1093/hmg/ddn291   (Journal Full-text)

It has been suggested that autism, like other complex genetic disorders, may benefit from the study of rare or Mendelian variants associated with syndromic or non-syndromic forms of the disease. However, there are few examples in which common variation in genes causing a Mendelian neuropsychiatric disorder has been shown to contribute to disease susceptibility in an allied common condition. Joubert syndrome (JS) is a rare recessively inherited disorder, with mutations reported at several loci including the gene Abelson's Helper Integration 1 (AHI1). A significant proportion of patients with JS, in some studies up to 40%, have been diagnosed with autism spectrum disorder (ASD) and several linkage studies in ASD have nominally implicated the region on 6q where AHI1 resides. To evaluate AHI1 in ASD, we performed a three-stage analysis of AHI1 as an a priori candidate gene for autism. Re-sequencing was first used to screen AHI1, followed by two subsequent association studies, one limited and one covering the gene more completely, in Autism Genetic Resource Exchange (AGRE) families. In stage 3, we found evidence of an associated haplotype in AHI1 with ASD after correction for multiple comparisons, in a region of the gene that had been previously associated with schizophrenia. These data suggest a role for AHI1 in common disorders affecting human cognition and behavior.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autism spectrum disorder  IAGP 11537389DNA:SNPs and haplotypeRGD 
autism spectrum disorder  ISOAHI1 (Homo sapiens)11537389; 11537389DNA:SNPs and haplotypeRGD 

Objects Annotated

Genes (Rattus norvegicus)
Ahi1  (Abelson helper integration site 1)

Genes (Mus musculus)
Ahi1  (Abelson helper integration site 1)

Genes (Homo sapiens)
AHI1  (Abelson helper integration site 1)

Additional Information