{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:12:08Z","timestamp":1792062728637,"version":"4.4.0"},"reference-count":81,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,7,13]],"date-time":"2009-07-13T00:00:00Z","timestamp":1247443200000},"content-version":"vor","delay-in-days":42,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic studies of autism spectrum conditions (ASC) have mostly focused on the \u201clow functioning\u201d severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common (\u223c1%), and representing one end of a quasi\u2010normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis\/transport, neural connectivity, and social\u2013emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (<jats:italic>n<\/jats:italic>=349); and (b) a case\u2013control association study on a sample of people with AS, a \u201chigh\u2010functioning\u201d subgroup of ASC (<jats:italic>n<\/jats:italic>=174). 27 genes showed a nominally significant association with autistic traits and\/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ\/EQ. In the sex steroid group, this included <jats:italic>ESR2<\/jats:italic> and <jats:italic>CYP11B1<\/jats:italic>. In the neural connectivity group, this included <jats:italic>HOXA1<\/jats:italic>, <jats:italic>NTRK1<\/jats:italic>, and <jats:italic>NLGN4X<\/jats:italic>. In the socio\u2010responsivity behavior group, this included <jats:italic>MAOB<\/jats:italic>, <jats:italic>AVPR1B<\/jats:italic>, and <jats:italic>WFS1<\/jats:italic>. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included <jats:italic>CYP17A1<\/jats:italic> and <jats:italic>CYP19A1<\/jats:italic>. In the socio\u2010emotional behavior group, this included <jats:italic>OXT<\/jats:italic>. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. <jats:italic>CYP11B1<\/jats:italic> and <jats:italic>NTRK1<\/jats:italic> emerged as significantly associated genes in both experiments, after FWER correction (<jats:italic>P<\/jats:italic>&lt;0.05). This is the first candidate\u2010gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping.<\/jats:p>","DOI":"10.1002\/aur.80","type":"journal-article","created":{"date-parts":[[2009,7,13]],"date-time":"2009-07-13T18:07:41Z","timestamp":1247508461000},"page":"157-177","source":"Crossref","is-referenced-by-count":255,"title":["Genes related to sex steroids, neural growth, and social\u2013emotional behavior are associated with autistic traits, empathy, and Asperger syndrome"],"prefix":"10.1002","volume":"2","author":[{"given":"B.","family":"Chakrabarti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Dudbridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Kent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wheelwright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Hill\u2010Cawthorne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Allison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Banerjee\u2010Basu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Baron\u2010Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,7,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2346"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1985"},{"key":"e_1_2_6_4_1","volume-title":"DSM\u2010IV diagnostic and statistical manual of mental disorders","author":"APA","year":"1994"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2006.00253.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02260"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1348\/000712608X311731"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291700028099"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)69041-7"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.7551\/mitpress\/4635.001.0001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1162\/jocn.1997.9.4.548"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:JADD.0000022607.19833.00"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1997.tb01599.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0149-7634(00)00011-7"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469-7610.00715"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005653411471"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","DOI":"10.7551\/mitpress\/5522.001.0001","volume-title":"Prenatal testosterone in mind: amniotic fluid studies","author":"Baron\u2010Cohen S.","year":"2004"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1115455"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3340-04.2004"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/497705"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lindif.2007.02.004"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2004.00325.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001011"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2006.04697.x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2005-1119"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/17470910600992239"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5343.1580"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.8.4678"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2003.10.005"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2004.12.014"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/1467-8624.00433"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1442"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.22-20-09005.2002"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2007.09.009"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(03)00339-5"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00822.x"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2004.00232.x"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2006.07.015"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1159\/000119108"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30650"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-2999(03)01273-1"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511526770.004"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg242"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-206"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/neu.10157"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.161.4.372"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.npp.1300021"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005775"},{"key":"e_1_2_6_49_1","volume-title":"International classification of diseases","author":"ICD\u201010","year":"1994"},{"key":"e_1_2_6_50_1","volume-title":"International classification of diseases","author":"ICD\u201010","year":"1994"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yhbeh.2007.02.001"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(98)00142-5"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1136"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1997.tb01539.x"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2004.00349.x"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1461145704004791"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03701"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500752102"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1159\/000087074"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320480111"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291703001624"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-1848.2004.00074.x"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2006.01594.x"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2004.09.042"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2003.12.002"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2000.2928"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00328-7"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0706.2003.12010.x"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30469"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2826.2005.01292.x"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2003-0307"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.24.1.1217"},{"key":"e_1_2_6_74_1","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1523\/JNEUROSCI.14-02-00459.1994","article-title":"Estrogen differentially regulates estrogen and nerve growth factor receptor mRNAs in adult sensory neuron","volume":"14","author":"Sohrabji F.","year":"1994","journal-title":"Journal of Neuroscience"},{"key":"e_1_2_6_75_1","doi-asserted-by":"publisher","DOI":"10.1086\/426951"},{"key":"e_1_2_6_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.paid.2006.04.003"},{"key":"e_1_2_6_77_1","volume-title":"Aspects of autism: biological research","author":"Wing L","year":"1988"},{"key":"e_1_2_6_78_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-005-3300-7"},{"key":"e_1_2_6_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2005.03.013"},{"key":"e_1_2_6_80_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30618"},{"key":"e_1_2_6_81_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001385"},{"key":"e_1_2_6_82_1","doi-asserted-by":"publisher","DOI":"10.1037\/0012-1649.28.6.1038"}],"container-title":["Autism Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Faur.80","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/aur.80","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T21:35:42Z","timestamp":1695936942000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/aur.80"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6]]},"references-count":81,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1002\/aur.80"],"URL":"https:\/\/doi.org\/10.1002\/aur.80","archive":["Portico"],"relation":{},"ISSN":["1939-3792","1939-3806"],"issn-type":[{"value":"1939-3792","type":"print"},{"value":"1939-3806","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6]]}}}