A heterogeneity-based genome search meta-analysis for autism-spectrum disorders
| dc.contributor.author | Trikalinos, T. A. | en |
| dc.contributor.author | Karvouni, A. | en |
| dc.contributor.author | Zintzaras, E. | en |
| dc.contributor.author | Ylisaukko-oja, T. | en |
| dc.contributor.author | Peltonen, L. | en |
| dc.contributor.author | Jarvela, I. | en |
| dc.contributor.author | Ioannidis, J. P. | en |
| dc.date.accessioned | 2015-11-24T19:40:20Z | |
| dc.date.available | 2015-11-24T19:40:20Z | |
| dc.identifier.issn | 1359-4184 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/24339 | |
| dc.rights | Default Licence | - |
| dc.subject | Asperger Syndrome/*genetics | en |
| dc.subject | Autistic Disorder/*genetics | en |
| dc.subject | *Genetic Heterogeneity | en |
| dc.subject | *Genome, Human | en |
| dc.subject | *Genomics | en |
| dc.subject | Humans | en |
| dc.title | A heterogeneity-based genome search meta-analysis for autism-spectrum disorders | en |
| heal.abstract | Autism and autism-spectrum disorders exhibit high heritability, although specific susceptibility genes still remain largely elusive. We performed a heterogeneity-based genome search meta-analysis (HEGESMA) of nine genome scans on autism or autism-spectrum disorders. Each genome scan was separated in 30 cM bins and the maximum linkage statistic from each bin was ranked. Significance for each bin's average rank and for between-scan heterogeneity (dis-similarity in the average ranks) was obtained through Monte Carlo tests. For autism, data from 771 affected sibpairs were synthesized across six separate genome scans. Region 7q22-q32 reached genome-wide significance both in weighted and unweighted analyses, with evidence for significantly low between-scan heterogeneity. The flanking chromosomal region 7q32-qter reached the less stringent threshold of suggestive significance, with no evidence for low between-scan heterogeneity. For autism-spectrum disorders (634 affected sibpairs from five separate scans), no chromosomal region reached genome-wide significance. However, suggestive significance was reached for the chromosomal regions 17p11.2-q12 and 10p12-q11.1 in weighted analyses. There was evidence for significantly high between-scan heterogeneity for the former region. The meta-analysis suggests that the 7q22-q32 region should be further scrutinized for autism susceptibility genes, while autism-spectrum disorders seem to have quite diverse linkage signals across scans, possibly suggesting genetic heterogeneity across subsyndromes and subpopulations. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1038/sj.mp.4001750 | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/16189507 | - |
| heal.identifier.secondary | http://www.nature.com/mp/journal/v11/n1/pdf/4001750a.pdf | - |
| heal.journalName | Mol Psychiatry | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 2006 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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