Association of common variants in the Joubert syndrome gene (AHI1) with autism
Open accessAbstract
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.
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Homozygous mutations in AHI1 were the first identified Joubert Syndrome cause, and common genetic variation in AHI1 has been associated with non-syndromic autistic disorder.
“Homozygous mutations in AHI1 were the first identified JS cause and common genetic variation in AHI1, represented by single nucleotide polymorphisms (SNPs), was subsequently found to be associated with non-syndromic AD [64].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [64]
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Research works printed but not linked: 1
- SNPs. p_Sum is similar, but the statistic is the sum of the per- mutated scores for all the SNPs tested. Both reflect region-wide significance and correct for multiple testing in that region. ELECTONIC DATABASE INFORMATION ACESCAN2: http://genes.mit.edu/acescan2/. Autism Genetic Resource Exchange (AGRE): http://www. agre.org. Applied Biosystems: http://www.jgi.doe.gov/sequencing/ protocols/archive/BigDye3.1auto1.0.doc. Berkeley Drosophila Genome Project (BDGP): http://www. fruitfly.org/seq_tools/splice.html. DOE Joing Genome institute (JGI): http://www.jgi.doe.gov/ . ESE finder: http://rulai.cshl.edu/tools/ESE/ESEbkgr.html. Exon Locator & Extractor for Resequencing program (EXLR): http://mutation.swmed.edu/ex-lax/. HapMap (Hmp): http://www.hapmap.org. HairpinFetcher Institute of Genomics & Interative Technol- ogy: http://miracle.igib.res.in/hfinder/. Illumina: http://www.illumina.com. NCBI dbSNP Build 126 database: http://www.ncbi.nlm.nih. gov/entrez/query.fcgi?db=snp.
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- Authors
- Alvarez Retuerto, A. I., Cantor, R. M., Gleeson, J. G., Ustaszewska, A., Schackwitz, W. S., Pennacchio, L. A., & Geschwind, D. H.
- Affiliations
- University of California San Diego (US)
- Joint Genome Institute (US)
- Lawrence Berkeley National Laboratory (US)
- University of California, Los Angeles (US)
- Corresponding author
- Geschwind, Daniel H.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-09-09
- Volume
- 17
- Issue
- 24
- Pages
- 3887-3896
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2638573
- OpenAlex
- W2131479461
- Cited by
- 96
- References
- 66
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 6 · 2023: 2 · 2022: 5 · 2021: 7 · 2020: 4 · 2019: 1 · 2018: 3 · 2017: 7 · 2016: 5 · 2015: 3 · 2014: 7 · 2013: 8 · 2012: 6
- FWCI
- 3.97
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Energy (-AC02-05CH11231, 05CH11231, DE AC02 05CH11231, DE-AC02-)
- National Institute of Mental Health (R01MH64547, MH068172, MH081754, R01MH081754, U54MH068172, R01MH064547)
- National Institute of Neurological Disorders and Stroke (R01NS052455)
- National Institute of Child Health and Human Development
- Lawrence Berkeley National Laboratory (AC02‐05CH11231, DE-AC02-05CH11231, 05CH11231)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- AHI1, Joubert syndrome, autism spectrum disorder, common genetic variants, haplotype association, candidate genes, schizophrenia, neuropsychiatric disorders, genetic susceptibility
- MeSH terms
- Autistic Disorder, Cerebellum, Child, Female, Humans, Male, Schizophrenia, Syndrome, Genetic Variation, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Adaptor Proteins, Vesicular Transport, Adaptor Proteins, Signal Transducing
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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