{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:11:07Z","timestamp":1792062667193,"version":"4.4.0"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2002,7,10]],"date-time":"2002-07-10T00:00:00Z","timestamp":1026259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,8,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A recent study by Ingram et al. [2000b: Teratology 62:393\u2013405] suggests a<jats:sup>His<\/jats:sup>73<jats:sup>Arg<\/jats:sup>polymorphism (A:G) in<jats:italic>HOXA1<\/jats:italic>contributes substantially to a liability for autism. Using 68 individuals diagnosed with Autism Spectrum Disorders, they found a significant dearth of G homozygotes and biased transmission of G alleles from parents to affected offspring, especially from mothers. Because the connection between<jats:italic>HOXA1<\/jats:italic>and liability to autism is compelling, we attempted to replicate their finding using a larger, independent sample from the Collaborative Programs of Excellence in Autism (CPEA) network. In our data, genotype frequencies conform to Hardy\u2010Weinberg equilibrium; allele transmissions meet Mendelian expectations; and there is no obvious sex\u2010biased allele transmission. Based on our sample size, calculations suggest that we would have at least 95% power to detect linkage and association even if the A:G polymorphism were to account for only 1% of the heritability of autism. Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1<jats:sup>His<\/jats:sup>73<jats:sup>Arg<\/jats:sup>in liability to autism. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10603","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:56:23Z","timestamp":1033905383000},"page":"667-672","source":"Crossref","is-referenced-by-count":30,"title":["No evidence for linkage of liability to autism to<i>HOXA1<\/i>in a sample from the CPEA network"],"prefix":"10.1002","volume":"114","author":[{"given":"Bernie","family":"Devlin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Edwin H.","family":"Cook,","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraldine","family":"Dawson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena L.","family":"Grigorenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"McMahon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pauls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moyra","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Anne","family":"Spence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CPEA Genetics Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard D.","family":"Schellenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291700028099"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.5.889"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02172133"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1994.tb02300.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/320588"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1242\/dev.118.4.1063","article-title":"Loss of Hox\u2010A1 (Hox\u20101.6) function results in reorganization of the murine hindbrain","volume":"118","author":"Carpenter EM","year":"1993","journal-title":"Development"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.24.3093"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1111\/j.1469-8749.1994.tb11858.x","article-title":"Fetal valproate syndrome: clinical and neurodevelopmental features in two sibling pairs","volume":"36","author":"Christianson AL","year":"1994","journal-title":"Dev Med Child Neurol"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4000266"},{"key":"e_1_2_7_11_1","first-page":"928","article-title":"Autism or atypical autism in maternally but not paternally derived proximal 15q duplication","volume":"60","author":"Cook EH","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/301832"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02211877"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-199105000-00022"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.170179197"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0892-0362(99)00083-5"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360116"},{"key":"e_1_2_7_20_1","first-page":"932","article-title":"Complex segregation analysis of autism","volume":"49","author":"Jorde LB","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199807000-00001"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/302334"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1618"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/321980"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02172145"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005592401947"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010108)105:1<36::AID-AJMG1053>3.0.CO;2-4"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(98)01555-8"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.119.2.319"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000207)96:1<43::AID-AJMG9>3.0.CO;2-3"},{"key":"e_1_2_7_31_1","first-page":"369","article-title":"The puzzle of autism: an ophthalmologic contribution","volume":"96","author":"Miller MT","year":"1998","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_7_32_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1242\/dev.111.1.61","article-title":"Expression of the mouse labial\u2010like homeobox\u2010containing genes, Hox 2.9 and Hox 1.6, during segmentation of the hindbrain","volume":"111","author":"Murphy P","year":"1991","journal-title":"Development"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/301904"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4000850"},{"key":"e_1_2_7_35_1","first-page":"717","article-title":"Latent\u2010class analysis of recurrence risks for complex phenotypes with selection and measurement error: A twin and family history study of autism","volume":"57","author":"Pickles A","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/321272"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1159\/000022918"},{"key":"e_1_2_7_38_1","first-page":"222","article-title":"Linkage strategies for genetically complex traits. I. Multilocus models","volume":"46","author":"Risch N","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1086\/302497"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.143.7.862"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9861(19960624)370:2<247::AID-CNE8>3.0.CO;2-2"},{"key":"e_1_2_7_42_1","volume-title":"Neurodevelopmental disorders","author":"Santangelo SL","year":"1999"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10153"},{"key":"e_1_2_7_44_1","first-page":"506","article-title":"Transmission test for linkage disequilibrium: the insulin gene region and insulin dependent diabetes mellitus","volume":"52","author":"Spielman RS","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1997.tb07500.x"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2001.tb00188.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10603","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10603","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,6]],"date-time":"2024-01-06T19:09:16Z","timestamp":1704568156000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,8]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,8,8]]}},"alternative-id":["10.1002\/ajmg.10603"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10603","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,8]]}}}