Mapping autism risk loci using genetic linkage and chromosomal rearrangements
- PMID: 17322880
- PMCID: PMC4867008
- DOI: 10.1038/ng1985
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Erratum in
- Nat Genet. 2007 Oct;39(10):1285. Meyer, Kacie J [added]; Koop, Frederike [corrected to Koop, Frederieke]; Langemeijer, Marjolijn [corrected to Langemeijer, Marjolein]; Hijimans, Channa [corrected to Hijmans, Channa]
Abstract
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Conflict of interest statement
The authors declare no obvious financial interests.
Figures
![Figure 1](https://cdn.statically.io/img/www.ncbi.nlm.nih.gov/pmc/articles/instance/4867008/bin/halms937094f1.gif)
![Figure 2](https://cdn.statically.io/img/www.ncbi.nlm.nih.gov/pmc/articles/instance/4867008/bin/halms937094f2.gif)
![Figure 3](https://cdn.statically.io/img/www.ncbi.nlm.nih.gov/pmc/articles/instance/4867008/bin/halms937094f3.gif)
![Figure 4](https://cdn.statically.io/img/www.ncbi.nlm.nih.gov/pmc/articles/instance/4867008/bin/halms937094f4.gif)
![Figure 5](https://cdn.statically.io/img/www.ncbi.nlm.nih.gov/pmc/articles/instance/4867008/bin/halms937094f5.gif)
Similar articles
-
A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism.PLoS One. 2013 Jun 26;8(6):e67569. doi: 10.1371/journal.pone.0067569. Print 2013. PLoS One. 2013. PMID: 23840741 Free PMC article.
-
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14.Mol Psychiatry. 2007 Apr;12(4):376-84. doi: 10.1038/sj.mp.4001927. Epub 2006 Dec 19. Mol Psychiatry. 2007. PMID: 17179998
-
The genetics of autism spectrum disorders.Neuromolecular Med. 2006;8(4):451-60. doi: 10.1385/NMM:8:4:451. Neuromolecular Med. 2006. PMID: 17028369 Review.
-
The genetics of autism.Pediatrics. 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. Pediatrics. 2004. PMID: 15121991 Review.
-
Identifying autism susceptibility genes.Neuron. 2000 Oct;28(1):19-24. doi: 10.1016/s0896-6273(00)00081-7. Neuron. 2000. PMID: 11086979 Review. No abstract available.
Cited by
-
Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G).Genes (Basel). 2024 Apr 6;15(4):460. doi: 10.3390/genes15040460. Genes (Basel). 2024. PMID: 38674394 Free PMC article.
-
Exploring key genes and pathways associated with sex differences in autism spectrum disorder: integrated bioinformatic analysis.Mamm Genome. 2024 Jun;35(2):280-295. doi: 10.1007/s00335-024-10036-5. Epub 2024 Apr 9. Mamm Genome. 2024. PMID: 38594551
-
Distinct Alterations in Dendritic Spine Morphology in the Absence of β-Neurexins.Int J Mol Sci. 2024 Jan 20;25(2):1285. doi: 10.3390/ijms25021285. Int J Mol Sci. 2024. PMID: 38279285 Free PMC article.
-
Implications of Cell Adhesion Molecules in Autism Spectrum Disorder Pathogenesis.J Microsc Ultrastruct. 2022 Aug 4;11(4):199-205. doi: 10.4103/jmau.jmau_15_22. eCollection 2023 Oct-Dec. J Microsc Ultrastruct. 2022. PMID: 38213654 Free PMC article. Review.
-
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.Biomedicines. 2023 Nov 4;11(11):2971. doi: 10.3390/biomedicines11112971. Biomedicines. 2023. PMID: 38001974 Free PMC article.
References
-
- Association, A.P. Diagnostic and statistical manual of mental disorders. Washington, D.C: 1994.
-
- Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005;162:1133–1141. - PubMed
-
- Veenstra-Vanderweele J, Christian SL, Cook EH., Jr Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet. 2004;5:379–405. - PubMed
-
- Xu J, Zwaigenbaum L, Szatmari P, Scherer SW. Molecular Cytogenetics of Autism. Current Genomics. 2004;5:347–364.
-
- Bailey A, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995;25:63–77. - PubMed
Publication types
MeSH terms
Associated data
- Actions
Grants and funding
- MH64547/MH/NIMH NIH HHS/United States
- NS049261/NS/NINDS NIH HHS/United States
- MH061009/MH/NIMH NIH HHS/United States
- K02 MH01389/MH/NIMH NIH HHS/United States
- MH52708/MH/NIMH NIH HHS/United States
- NS036738/NS/NINDS NIH HHS/United States
- U19 HD035476/HD/NICHD NIH HHS/United States
- U19 HD035482/HD/NICHD NIH HHS/United States
- R01 MH064547/MH/NIMH NIH HHS/United States
- R01 MH081754/MH/NIMH NIH HHS/United States
- R01 NS043550/NS/NINDS NIH HHS/United States
- U54 MH066673-020001/MH/NIMH NIH HHS/United States
- M01 RR000064/RR/NCRR NIH HHS/United States
- NS026630/NS/NINDS NIH HHS/United States
- M01 RR006022/RR/NCRR NIH HHS/United States
- M01-RR00064/RR/NCRR NIH HHS/United States
- R01 NS049261/NS/NINDS NIH HHS/United States
- MH066673/MH/NIMH NIH HHS/United States
- R37 MH057881/MH/NIMH NIH HHS/United States
- M01 RR06022/RR/NCRR NIH HHS/United States
- P01 NS026630/NS/NINDS NIH HHS/United States
- R01 MH061009/MH/NIMH NIH HHS/United States
- G0601030/MRC_/Medical Research Council/United Kingdom
- U19HD34565/HD/NICHD NIH HHS/United States
- R01 NS042165/NS/NINDS NIH HHS/United States
- R01 MH057881/MH/NIMH NIH HHS/United States
- AS1489/AS/Autism Speaks/United States
- NS042165/NS/NINDS NIH HHS/United States
- K05 MH01196/MH/NIMH NIH HHS/United States
- 5 U19 HD035476/HD/NICHD NIH HHS/United States
- GGP030227/TI_/Telethon/Italy
- P50 HD055784/HD/NICHD NIH HHS/United States
- R01 MH093725/MH/NIMH NIH HHS/United States
- MH057881/MH/NIMH NIH HHS/United States
- MH55135/MH/NIMH NIH HHS/United States
- WT_/Wellcome Trust/United Kingdom
- U54 MH066673/MH/NIMH NIH HHS/United States
- U19 HD35482/HD/NICHD NIH HHS/United States
- NS043550/NS/NINDS NIH HHS/United States
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical