{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T03:21:55Z","timestamp":1777346515370,"version":"3.51.4"},"reference-count":54,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T00:00:00Z","timestamp":1166054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2007,7,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tourette syndrome (TS) is a chronic neuropsychiatric disorder characterized by involuntary motor and phonic tics. The pattern of inheritance and associated genetic abnormality has yet to be fully characterized. A dopaminergic abnormality in this disorder is supported by response to specific therapies, nuclear imaging, and postmortem studies. In this protocol, dopaminergic polymorphisms were examined for associations with TS and attention\u2010deficit hyperactivity disorder (ADHD). Polymorphisms investigated included the dopamine transporter (DAT1<jats:italic>Dde<\/jats:italic>I and DAT1 VNTR), dopamine receptor (D4 Upstream Repeat and D4 VNTR), dopamine converting enzyme (dopamine \u03b2\u2010hydroxylase), and the acid phosphatase locus 1 (<jats:italic>ACP1<\/jats:italic>) gene. DNA was obtained from 266 TS individuals\u2009\u00b1\u2009ADHD and 236 controls that were ethnicity\u2010matched. A significant association, using a genotype\u2010based association analysis, was identified for the TS\u2010total and TS\u2010only versus control groups for the DAT1<jats:italic>Dde<\/jats:italic>I polymorphism (AG vs. AA,<jats:italic>P<\/jats:italic>\u2009=\u20090.004 and<jats:italic>P<\/jats:italic>\u2009=\u20090.01, respectively). Population structure, estimated by the genotyping of 27 informative SNP markers, identified 3 subgroups. A statistical re\u2010evaluation of the DAT1<jats:italic>Dde<\/jats:italic>I polymorphism following population stratification confirmed the association for the TS\u2010total and TS\u2010only groups, but the degree of significance was reduced (<jats:italic>P<\/jats:italic>\u2009=\u20090.017 and<jats:italic>P<\/jats:italic>\u2009=\u20090.016, respectively). This study has identified a significant association between the presence of TS and a DAT polymorphism. Since abnormalities of the dopamine transporter have been hypothesized in the pathophysiology of TS, it is possible that this could be a functional allele associated with clinical expression. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30466","type":"journal-article","created":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T18:09:45Z","timestamp":1166119785000},"page":"605-610","source":"Crossref","is-referenced-by-count":67,"title":["Dopaminergic polymorphisms in Tourette syndrome: Association with the DAT gene (<i>SLC6A3<\/i>)"],"prefix":"10.1002","volume":"144B","author":[{"given":"Dustin Y.","family":"Yoon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher A.","family":"Rippel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J.","family":"Kobets","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina M.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer E.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip N.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana D.","family":"Bridges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Vandenbergh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin Y.","family":"Shugart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harvey S.","family":"Singer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,14]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"379","volume-title":"Handbook of Tourette's Syndrome and Related Tic and Behavioral Disorders","author":"Barr C","year":"2005"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(00)01053-2"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: A practical and powerful approach to multiple testing","volume":"57","author":"Benjamin Y","year":"1995","journal-title":"J R Stat Soc B"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(02)00750-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pscychresns.2003.06.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1991.03470130073032"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960531)67:3<264::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550304.x"},{"issue":"4","key":"e_1_2_6_10_1","first-page":"993","article-title":"Association of attention\u2010deficit disorder and the dopamine transporter gene","volume":"56","author":"Cook EH","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4000510"},{"issue":"15","key":"e_1_2_6_12_1","doi-asserted-by":"crossref","first-page":"5546","DOI":"10.1523\/JNEUROSCI.21-15-05546.2001","article-title":"Dopamine D1 receptor\u2010dependent trafficking of striatal NMDA glutamate receptors to the postsynaptic membrane","volume":"21","author":"Dunah AW","year":"2001","journal-title":"J Neurosci"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1207\/s15374424jccp2003_3"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4927(94)90014-0"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4000290"},{"issue":"3","key":"e_1_2_6_16_1","first-page":"644","article-title":"Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission\u2010disequilibrium test","volume":"59","author":"Grice DE","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3956(97)00028-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)64298-0"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.4.1069"},{"issue":"2","key":"e_1_2_6_20_1","first-page":"465","article-title":"Linkage studies on Gilles de la Tourette syndrome: What is the strategy of choice?","volume":"57","author":"Heutink P","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"2","key":"e_1_2_6_21_1","first-page":"100","article-title":"[Transmission disequilibrium test of DRD4 exon III 48bp variant number tandem repeat polymorphism and tic disorder]","volume":"19","author":"Huang Y","year":"2002","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.3.652"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1436"},{"issue":"4","key":"e_1_2_6_24_1","first-page":"607","article-title":"Dopaminergic system genes in ADHD: Toward a biological hypothesis","volume":"27","author":"Kirley A","year":"2002","journal-title":"Neuropsychopharmacology"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.05.005"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.152.9.1359"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.20065"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0893-133X(95)00150-C"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007806"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3999(02)00586-X"},{"issue":"1","key":"e_1_2_6_31_1","first-page":"154","article-title":"A family study of Gilles de la Tourette syndrome","volume":"48","author":"Pauls DL","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.1985.01790310077011"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/302449"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/302959"},{"issue":"6","key":"e_1_2_6_35_1","first-page":"626","article-title":"Association studies of G352A polymorphism of dopamine transporter gene in Han Chinese attention deficit hyperactivity disorder patients","volume":"36","author":"Qian QJ","year":"2004","journal-title":"Beijing Da Xue Xue Bao"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.162.1.114"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021427314941"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.801"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1086\/318195"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991215)88:6<705::AID-AJMG22>3.0.CO;2-F"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/365441a0"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2396(199702)25:2<137::AID-SYN4>3.0.CO;2-D"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.1079-a"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0001-690X.2004.00214.x"},{"issue":"1","key":"e_1_2_6_45_1","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1080\/00332747.1995.11024713","article-title":"Nonverbal perceptual organization output disability and schizophrenia spectrum symptomatology","volume":"58","author":"Silverstein SM","year":"1995","journal-title":"Psychiatry"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70018-1"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(03)90012-X"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300408"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.159.8.1329"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0924-977X(00)00134-6"},{"issue":"6","key":"e_1_2_6_51_1","first-page":"505","article-title":"Point: Population stratification: A problem for case\u2010control studies of candidate\u2010gene associations?","volume":"11","author":"Thomas DC","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001009)96:5<678::AID-AJMG15>3.0.CO;2-8"},{"issue":"3","key":"e_1_2_6_53_1","first-page":"684","article-title":"Family study and segregation analysis of Tourette syndrome: Evidence for a mixed model of inheritance","volume":"59","author":"Walkup JT","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5279.1225"},{"issue":"8","key":"e_1_2_6_55_1","first-page":"1243","article-title":"D2\u2010like dopamine receptor density in Tourette syndrome measured by PET","volume":"38","author":"Wong DF","year":"1997","journal-title":"J Nucl Med"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.30466","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T10:22:08Z","timestamp":1736677328000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,14]]},"references-count":54,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,7,5]]}},"alternative-id":["10.1002\/ajmg.b.30466"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30466","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,14]]}}}