{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T15:10:15Z","timestamp":1782486615854,"version":"3.54.5"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,8,3]],"date-time":"2015-08-03T00:00:00Z","timestamp":1438560000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2015,8,3]],"date-time":"2015-08-03T00:00:00Z","timestamp":1438560000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, a genome-wide association study has indicated associations between single nucleotide polymorphisms in the Collagen Type XXVII Alpha 1 gene (<jats:italic>COL27A1<\/jats:italic>) and Tourette syndrome in several ethnic populations. To clarify the global relevance of the previously identified SNPs in the development of Tourette syndrome, the associations between polymorphisms in <jats:italic>COL27A1<\/jats:italic>and Tourette syndrome were assessed in Chinese trios. PCR-directed sequencing was used to evaluate the genetic contributions of three SNPs in <jats:italic>COL27A1<\/jats:italic>(rs4979356, rs4979357 and rs7868992) using haplotype relative risk (HRR) and transmission disequilibrium tests (TDT) with a total of 260 Tourette syndrome trios. The family-based association was significant between Tourette syndrome and rs4979356 (TDT: \u03c72\u2009=\u20094.804, P\u2009=\u20090.033; HRR\u2009=\u20091.75, P\u2009=\u20090.002; HHRR\u2009=\u20091.32, P\u2009=\u20090.027) and transmission disequilibrium was suspected for rs4979357 (TDT: \u03c72\u2009=\u20093.969, P\u2009=\u20090.053; HRR\u2009=\u20091.84, P\u2009=\u20090.001; HHRR\u2009=\u20091.29, P\u2009=\u20090.044). No statistically significant allele transfer was found for rs7868992 (TDT: \u03c72\u2009=\u20092.177, P\u2009=\u20090.158). Although the TDT results did not remain significant after applying the conservative Bonferroni correction (p\u2009=\u20090.005), the significant positive HRR analysis confirmed the possibility of showing transmission disequilibrium, which provides evidence for an involvement of <jats:italic>COL27A1<\/jats:italic>in the development of TS. However, these results need to be verified with larger datasets from different populations.<\/jats:p>","DOI":"10.1038\/srep12687","type":"journal-article","created":{"date-parts":[[2015,8,3]],"date-time":"2015-08-03T10:20:46Z","timestamp":1438597246000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome"],"prefix":"10.1038","volume":"5","author":[{"given":"Shiguo","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxia","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quanchen","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiajia","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingji","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinlin","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,8,3]]},"reference":[{"key":"BFsrep12687_CR1","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/j.pcl.2010.10.004","volume":"58","author":"MA Chadehumbe","year":"2011","unstructured":"Chadehumbe, M. A., Greydanus, D. E., Feucht, C. & Patel, D. R. Psychopharmacology of tic disorders in children and adolescents. Pediatr. Clin. North Am. 58, 259\u2013272, xiii (2011).","journal-title":"Pediatr. Clin. North Am."},{"key":"BFsrep12687_CR2","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1177\/08830738060210081001","volume":"21","author":"JF Leckman","year":"2006","unstructured":"Leckman, J. F., Bloch, M. H., Scahill, L. & King, R. A. Tourette syndrome: the self under siege. J. Child Neurol. 21, 642\u2013649 (2006).","journal-title":"J. Child Neurol."},{"key":"BFsrep12687_CR3","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1097\/00004583-200301000-00016","volume":"42","author":"DG Sukhodolsky","year":"2003","unstructured":"Sukhodolsky, D. G. et al. Disruptive behavior in children with Tourette\u2019s syndrome: association with ADHDcomorbidity, tic severity and functional impairment. 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