{"doi":"10.1038/sj.mp.4001750","title":"A heterogeneity-based genome search meta-analysis for autism-spectrum disorders","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.","journal":"Molecular Psychiatry","year":2005,"id":3425,"datarank":0.7009243251692859,"base_score":4.672828834461906,"endowment":4.672828834461906,"self_citation_contribution":0.7009243251692859,"citation_network_contribution":0.0,"self_endowment_contribution":0.7009243251692859,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":106,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.2434,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2005-09-27","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":35970,"name":"A. Karvouni","orcid":null,"position":1,"is_corresponding":false},{"id":1316,"name":"Elias Zintzaras","orcid":null,"position":2,"is_corresponding":false},{"id":35972,"name":"T Ylisaukko-oja","orcid":null,"position":3,"is_corresponding":false},{"id":35973,"name":"L Peltonen","orcid":null,"position":4,"is_corresponding":false},{"id":35974,"name":"I Järvelä","orcid":null,"position":5,"is_corresponding":false},{"id":11861,"name":"Thomas A. Trikalinos","orcid":"0000-0002-3990-1848","position":7,"is_corresponding":false},{"id":1318,"name":"Ηλίας Ζιντζαράς","orcid":"0000-0002-4450-0125","position":8,"is_corresponding":false},{"id":35975,"name":"Tero Ylisaukko‐oja","orcid":null,"position":9,"is_corresponding":false},{"id":35976,"name":"Leena Peltonen","orcid":"0000-0002-6651-2792","position":10,"is_corresponding":false},{"id":35977,"name":"Irma Järvelä","orcid":"0000-0002-1770-6187","position":11,"is_corresponding":false},{"id":148,"name":"John P. A. Ioannidis","orcid":"0000-0003-3118-6859","position":12,"is_corresponding":false}],"reference_count":69,"raw_metadata":null,"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}