A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
paper
Cited
Public
- Authors
- Ma, Deqiong; Salyakina, Daria; Jaworski, James M; Konidari, Ioanna; Whitehead, Patrice L; Andersen, Ashley N; Hoffman, Joshua D; Slifer, Susan H; Hedges, Dale J; Cukier, Holly N; Griswold, Anthony J; McCauley, Jacob L; Beecham, Gary W; Wright, Harry H; Abramson, Ruth K; Martin, Eden R; Hussman, John P; Gilbert, John R; Cuccaro, Michael L; Haines, Jonathan L; Pericak-Vance, Margaret A
- Year
- 2009
- Journal
- Annals of human genetics
- PMID
- 19456320
- DOI
- 10.1111/j.1469-1809.2009.00523.x
- PMCID
- PMC2918410
Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autistic Caucasian families and the Illumina Human 1M beadchip. 96 single nucleotide polymorphisms (SNPs) demonstrated strong association with autism risk (p-value < 0.0001). The validation of the top 96 SNPs was performed using an independent dataset of 487 Caucasian autism families genotyped on the 550K Illumina BeadChip. A novel region on chromosome 5p14.1 showed significance in both the discovery and validation datasets. Joint analysis of all SNPs in this region identified 8 SNPs having improved p-values (3.24E-04 to 3.40E-06) than in either dataset alone. Our findings demonstrate that in addition to multiple rare variations, part of the complex genetic architecture of autism involves common variation.
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| Name | Type |
|---|---|
| 1M BeadChip SNPs local | variant |
| 5p14.1 local | variant |
| 72 multiplex autism families local | cohort |
| agarose | drug |
| age-related macular degeneration | phenotype |
| AGRE | cohort |
| AGRE dataset local | cohort |
| Alzheimer's disease | phenotype |
| apoE | gene |
| Applied Biosystems | drug |
| ASDs | phenotype |
| Asperger syndrome | phenotype |
| autism | phenotype |
| Autism consensus cohort local | cohort |
| Autism Genetics Resource Exchange 2008 local | cohort |
| Autism Genome Research Exchange local | cohort |
| autism spectrum disorders | phenotype |
| autistic disorder | phenotype |
| autistic families local | cohort |
| Autistic families local | cohort |
| CAP dataset local | cohort |
| Caucasian families local | cohort |
| CDH10 | gene |
| CDH9 | gene |
| CFH | gene |
| CNTNAP2 | gene |
| CNTNAP2 common variant local | variant |
| Cohort_1 local | cohort |
| Cohort_2 local | cohort |
| cohort of 1,241 ASD cases and 6,491 control local | cohort |
| Collaborative Autism Project local | cohort |
| Combined_dataset local | cohort |
| common variation | variant |
| discovery dataset | cohort |
| discovery families local | cohort |
| DNA | drug |
| genetic disorders | phenotype |
| genetic gender local | phenotype |
| genomic DNA | drug |
| haplotype block delineation local | phenotype |
| Haploview 4.1 local | drug |
| hearing loss | phenotype |
| Human 1Mv1 Beadchip local | drug |
| IL2RA local | gene |
| IL7RA local | gene |
| Illumina | drug |
| Illumina Procedures local | drug |
| Infinium II assay local | drug |
| International Molecular Genetic Study of Autism Consortium (IMGSAC) local | cohort |
| International Multiple Sclerosis Genetics Consortium local | cohort |
| Join sample local | cohort |
| joint dataset local | cohort |
| known common CNV-regions local | variant |
| LD measures (r2) local | phenotype |
| LD patterns local | phenotype |
| male only autism families local | cohort |
| male only families local | cohort |
| Mendelian errors local | phenotype |
| mental retardation | phenotype |
| metabolic disorders | phenotype |
| Miami Institute for Human Genomics local | cohort |
| most significant SNPs local | variant |
| Motor impairments local | phenotype |
| multiple sclerosis | phenotype |
| multiplex families | cohort |
| ND-8000 spectrophotometer local | drug |
| neurodevelopmental disorder | phenotype |
| Progressive neurological disorders local | phenotype |
| Puregene chemistry local | drug |
| Qiagen Autopure LS local | drug |
| rare structural DNA variations local | variant |
| rare variant | cohort |
| replicated SNPs local | variant |
| rs10038113 local | variant |
| rs270102 local | variant |
| rs7794745 local | variant |
| SingleAllAgre local | cohort |
| singleton families local | cohort |
| SNP | cohort |
| SNPs_5p14.1 local | variant |
| Taqman allelic discrimination assay local | drug |
| triad families local | cohort |
| twin and sibling studies local | cohort |
| University of South Carolina local | cohort |
| Unrelated founders local | cohort |
| U.S. children | cohort |
| validation dataset local | cohort |
| Validation dataset local | cohort |
| validation families local | cohort |
| Vanderbilt Center for Human Genetics Research local | cohort |
| Visual impairment local | phenotype |
| whole blood | anatomy |
| W.S. Hall Psychiatric Institute local | cohort |
| X-chromosome linked SNPs local | variant |
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