{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T03:16:06Z","timestamp":1783912566268,"version":"3.55.0"},"reference-count":69,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T00:00:00Z","timestamp":1367193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>To evaluate the hypothesis that functionally over\u2010expressing alleles of the serotonin transporter (SERT) gene (solute carrier family 6, member 4, <jats:italic>SLC6A4<\/jats:italic>) are present in Tourette's disorder (TD), just as we previously observed in obsessive compulsive disorder (OCD), we evaluated TD probands (N\u2009=\u2009151) and controls (N\u2009=\u2009858). We genotyped the refined SERT\u2010linked polymorphic region 5\u2010HTTLPR\/rs25531 and the associated rs25532 variant in the <jats:italic>SLC6A4<\/jats:italic> promoter plus the rare coding variant SERT isoleucine\u2010to\u2010valine at position 425 (I425V). The higher expressing 5\u2010HTTLPR\/rs25531 L<jats:sub>A<\/jats:sub> allele was more prevalent in TD probands than in controls (\u03c7<jats:sup>2<\/jats:sup>\u2009=\u20095.75; <jats:italic>P<\/jats:italic>\u2009=\u20090.017; odds ratio [OR], 1.35); and, in a secondary analysis, surprisingly, it was significantly more frequent in probands who had TD alone than in those who had TD plus OCD (Fisher's exact test; <jats:italic>P<\/jats:italic>\u2009=\u20090.0006; OR, 2.29). Likewise, the higher expressing L<jats:sub>AC<\/jats:sub> haplotype (5\u2010HTTLPR\/rs25531\/rs25532) was more frequent in TD probands than in controls (<jats:italic>P<\/jats:italic>\u2009=\u20090.024; OR, 1.33) and also in the TD alone group versus the TD plus OCD group (<jats:italic>P<\/jats:italic>\u2009=\u20090.0013; OR, 2.14). Furthermore, the rare gain\u2010of\u2010function SERT I425V variant was observed in 3 male siblings with TD and\/or OCD and in their father. Thus, the cumulative count of SERT I425V becomes 1.57% in OCD\/TD spectrum conditions versus 0.15% in controls, with a recalculated, family\u2010adjusted significance of \u03c7<jats:sup>2<\/jats:sup> = 15.03 (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001; OR, 9.0; total worldwide genotyped, 2914). This report provides a unique combination of common and rare variants in one gene in TD, all of which are associated with SERT gain of function. Thus, altered SERT activity represents a potential contributor to serotonergic abnormalities in TD. The present results call for replication in a similarly intensively evaluated sample. \u00a9 2013 <jats:italic>Movement<\/jats:italic> Disorder Society<\/jats:p>","DOI":"10.1002\/mds.25460","type":"journal-article","created":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T12:47:46Z","timestamp":1367239666000},"page":"1263-1270","source":"Crossref","is-referenced-by-count":52,"title":["Common and rare alleles of the serotonin transporter gene, <i>SLC6A4<\/i>, associated with Tourette's disorder"],"prefix":"10.1002","volume":"28","author":[{"given":"Pablo R.","family":"Moya","sequence":"first","affiliation":[{"name":"Laboratory of Clinical Science National Institute of Mental Health\u2010Intramural Research Program Bethesda Maryland USA"},{"name":"Department of Physiology Faculty of Sciences, University of Valparaiso Valparaiso Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens R.","family":"Wendland","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Science National Institute of Mental Health\u2010Intramural Research Program Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liza M.","family":"Rubenstein","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Science National Institute of Mental Health\u2010Intramural Research Program Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiara R.","family":"Timpano","sequence":"additional","affiliation":[{"name":"Department of Psychology University of Miami Coral Gables Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary A.","family":"Heiman","sequence":"additional","affiliation":[{"name":"Human Genetics Institute of New Jersey and Department of Genetics Rutgers University Piscataway New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay A.","family":"Tischfield","sequence":"additional","affiliation":[{"name":"Human Genetics 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