The genetics of Tourette syndrome: A review

Journal of Psychosomatic Research

Volumn 67, Issue 6, 2009, Pages 533-545

  O'Rourke, Julia A ^a,b   Scharf, Jeremiah M ^a   Yu, Dongmei ^a   Pauls, David L ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Tufts University   (United States)

Author keywords

Family study; Genetics; Review; Tourette's Disorder

Indexed keywords

ATTENTION DEFICIT DISORDER; CHROMOSOME TRANSLOCATION; FAMILY; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GILLES DE LA TOURETTE SYNDROME; HEREDITY; HUMAN; OBSESSIVE COMPULSIVE DISORDER; PHENOTYPE; REVIEW; TWINS;

ALLELES; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LINKAGE (GENETICS); OBSESSIVE-COMPULSIVE DISORDER; TOURETTE SYNDROME;

EID: 70449361669     PISSN: 00223999     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpsychores.2009.06.006     Document Type: Review

References (163)

1. de la Tourette G. Etude sur une affection nerveuse caracterisee par de l'indoordination motrice accompagnee d'echolalie et al copralalie. Archives or Neurology 9 (1885) 19-42
2. Pauls D.L., Hurst C.R., Kruger S.D., Leckman J.F., Kidd K.K., and Cohen DJ. Gilles de la Tourette's syndrome and attention deficit disorder with hyperactivity. Evidence against a genetic relationship. Arch Gen Psychiatry 43 (1986) 1177-1179
3. Kidd K.K., Prusoff B.A., and Cohen D.J. Familial pattern of Gilles de la Tourette syndrome. Arch Gen Psychiatry 37 (1980) 1336-1339
4. Pauls D.L., Cohen D.J., Heimbuch R., Detlor J., and Kidd K.K. Familial pattern and transmission of Gilles de la Tourette syndrome and multiple tics. Arch Gen Psychiatry 38 (1981) 1091-1093
5. Pauls D.L., Kruger S.D., Leckman J.F., Cohen D.J., and Kidd K.K. The risk of Tourette's syndrome and chronic multiple tics among relatives of Tourette's syndrome patients obtained by direct interview. J Am Acad Child Psychiatry 23 (1984) 134-137
6. Pauls D.L., Raymond C.L., Stevenson J.M., and Leckman J.F. A family study of Gilles de la Tourette syndrome. Am J Hum Genet 48 (1991) 154-163
7. Eapen V., Pauls D.L., and Robertson MM. Evidence for autosomal dominant transmission in Tourette's syndrome. United Kingdom cohort study. Br J Psychiatry 162 (1993) 593-596
8. Walkup J.T., LaBuda M.C., Singer H.S., Brown J., Riddle M.A., and Hurko O. Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance. Am J Hum Genet 59 (1996) 684-693
9. Hebebrand J., Klug B., Fimmers R., Seuchter S.A., Wettke-Schafer R., Deget F., Camps A., Lisch S., Hebebrand K., von Gontard A., Lehmkuhl G., Poustka F., Schmidt M., Baur M.P., and Remschmidt H. Rates for tic disorders and obsessive compulsive symptomatology in families of children and adolescents with Gilles de la Tourette syndrome. J Psychiatr Res 31 (1997) 519-530
10. Kano Y., Ohta M., Nagai Y., Pauls D.L., and Leckman J.F. A family study of Tourette syndrome in Japan. Am J Med Genet 105 (2001) 414-421
11. Saccomani L., Fabiana V., Manuela B., and Giambattista R. Tourette syndrome and chronic tics in a sample of children and adolescents. Brain Dev 27 (2005) 349-352
12. Stewart S.E., Illmann C., Geller D.A., Leckman J.F., King R., and Pauls D.L. A controlled family study of attention-deficit/hyperactivity disorder and Tourette's disorder. J Am Acad Child Adolesc Psychiatry 45 (2006) 1354-1362
13. Smoller J.W., Sheidley B.R., and Tsuang MT. Psychiatric genetics applications in clinical practice (2008), American Psychiatric Publishing, Inc., Washington (DC)
14. Freeman R.D., Fast D.K., Burd L., Kerbeshian J., Robertson M.M., and Sandor P. An international perspective on Tourette syndrome: selected findings from 3,500 individuals in 22 countries. Dev Med Child Neurol 42 (2000) 436-447
15. Mol Debes N.M., Hjalgrim H., and Skov L. Validation of the presence of comorbidities in a Danish clinical cohort of children with Tourette syndrome. J Child Neurol 23 (2008) 1017-1027
16. Freeman R.D. Tic disorders and ADHD: answers from a world-wide clinical dataset on Tourette syndrome. Eur Child Adolesc Psychiatry 16 Suppl 1 (2007) 15-23
17. Khalifa N., and von Knorring A.L. Psychopathology in a Swedish population of school children with tic disorders. J Am Acad Child Adolesc Psychiatry 45 (2006) 1346-1353
18. Karno M., Golding J.M., Sorenson S.B., and Burnam M.A. The epidemiology of obsessive-compulsive disorder in five US communities. Arch Gen Psychiatry 45 (1988) 1094-1099
19. Weissman M.M., Bland R.C., Canino G.J., Greenwald S., Hwu H.G., Lee C.K., Newman S.C., Oakley-Browne M.A., Rubio-Stipec M., Wickramaratne P.J., et al. The cross national epidemiology of obsessive compulsive disorder. The Cross National Collaborative Group. J Clin Psychiatry 55 Suppl (1994) 5-10
20. Polanczyk G., de Lima M.S., Horta B.L., Biederman J., and Rohde L.A. The worldwide prevalence of ADHD: a systematic review and metaregression analysis. Am J Psychiatry 164 (2007) 942-948
21. Pringsheim T., Lang A., Kurlan R., Pearce M., and Sandor P. Understanding disability in Tourette syndrome. Dev Med Child Neurol (2008) 468-472
22. Budman C.L., Bruun R.D., Park K.S., Lesser M., and Olson M. Explosive outbursts in children with Tourette's disorder. J Am Acad Child Adolesc Psychiatry 39 (2000) 1270-1276
23. Budman C.L., Bruun R.D., Park K.S., and Olson M.E. Rage attacks in children and adolescents with Tourette's disorder: a pilot study. J Clin Psychiatry 59 (1998) 576-580
24. Pauls D.L. The genetics of obsessive compulsive disorder: a review of the evidence. Am J Med Genet C Semin Med Genet 148 (2008) 133-139
25. Pauls D.L., Towbin K.E., Leckman J.F., Zahner G.E., and Cohen DJ. Gilles de la Tourette's syndrome and obsessive-compulsive disorder. Evidence supporting a genetic relationship. Arch Gen Psychiatry 43 (1986) 1180-1182
26. Curtis D., Robertson M.M., and Gurling H.M. Autosomal dominant gene transmission in a large kindred with Gilles de la Tourette syndrome. Br J Psychiatry 160 (1992) 845-849
27. McMahon W.M., van de Wetering B.J., Filloux F., Betit K., Coon H., and Leppert M. Bilineal transmission and phenotypic variation of Tourette's disorder in a large pedigree. J Am Acad Child Adolesc Psychiatry 35 (1996) 672-680
28. Pauls D.L., Alsobrook J.P., Goodman W., Rasmussen S., and Leckman J.F. A family study of obsessive-compulsive disorder. Am J Psychiatry 152 (1995) 76-84
29. Grados M.A., Riddle M.A., Samuels J.F., Liang K.Y., Hoehn-Saric R., Bienvenu O.J., Walkup J.T., Song D., and Nestadt G. The familial phenotype of obsessive-compulsive disorder in relation to tic disorders: the Hopkins OCD family study. Biol Psychiatry 50 (2001) 559-565
30. Leonard H.L., Lenane M.C., Swedo S.E., Rettew D.C., Gershon E.S., and Rapoport J.L. Tics and Tourette's disorder: a 2- to 7-year follow-up of 54 obsessive-compulsive children. Am J Psychiatry 149 (1992) 1244-1251
31. Nestadt G., Samuels J., Riddle M., Bienvenu O.J., Liang K.Y., LaBuda M., Walkup J., Grados M., and Hoehn-Saric R. A family study of obsessive-compulsive disorder. Arch Gen Psychiatry 57 (2000) 358-363
32. Biederman J., and Faraone S.V. Attention-deficit hyperactivity disorder. Lancet 366 (2005) 237-248
33. Comings D.E., and Comings BG.A. controlled study of Tourette syndrome. I. Attention-deficit disorder, learning disorders, and school problems. Am J Hum Genet 41 (1987) 701-741
34. Knell E.R., and Comings D.E. Tourette's syndrome and attention-deficit hyperactivity disorder: evidence for a genetic relationship. J Clin Psychiatry 54 (1993) 331-337
35. Pauls D.L., Leckman J.F., and Cohen D.J. Familial relationship between Gilles de la Tourette's syndrome, attention deficit disorder, learning disabilities, speech disorders, and stuttering. J Am Acad Child Adolesc Psychiatry 32 (1993) 1044-1050
36. ORourke JA, Scharf JM, Stewart E, Platko J, Illmann C, Geller D, King RA, Leckman JF, Pauls D. The familial association of Tourette's disorder and ADHD: the impact of OCD symptoms. Submitted for publication.
37. Spencer T., Biederman J., Harding M., O'Donnell D., Wilens T., Faraone S., Coffey B., and Geller D. Disentangling the overlap between Tourette's disorder and ADHD. J Child Psychol Psychiatry 39 (1998) 1037-1044
38. McMahon W.M., Carter A.S., Fredine N., and Pauls DL. Children at familial risk for Tourette's disorder: child and parent diagnoses. Am J Med Genet B Neuropsychiatr Genet 121B (2003) 105-111
39. Grados M.A., and Mathews C.A. Latent class analysis of Gilles de la Tourette syndrome using comorbidities: clinical and genetic implications. Biol Psychiatry 64 (2008) 219-225
40. Robertson M.M., Althoff R.R., Hafez A., and Pauls D.L. Principal components analysis of a large cohort with Tourette syndrome. Br J Psychiatry 193 (2008) 31-36
41. Comings D.E., Comings B.G., Devor E.J., and Cloninger C.R. Detection of major gene for Gilles de la Tourette syndrome. Am J Hum Genet 36 (1984) 586-600
42. Baron M., Shapiro E., Shapiro A., and Rainer J.D. Genetic analysis of Tourette syndrome suggesting major gene effect. Am J Hum Genet 33 (1981) 767-775
43. Devor E.J. Complex segregation analysis of Gilles de la Tourette syndrome: further evidence for a major locus mode of transmission. Am J Hum Genet 36 (1984) 704-709
44. Hasstedt S.J., Leppert M., Filloux F., van de Wetering B.J., and McMahon W.M. Intermediate inheritance of Tourette syndrome, assuming assortative mating. Am J Hum Genet 57 (1995) 682-689
45. Kidd K.K., and Pauls D.L. Genetic hypotheses for Tourette syndrome. Adv Neurol 35 (1982) 243-249
46. Pauls D.L., and Leckman JF. The inheritance of Gilles de la Tourette's syndrome and associated behaviors. Evidence for autosomal dominant transmission. N Engl J Med 315 (1986) 993-997
47. Pauls D.L., Pakstis A.J., Kurlan R., Kidd K.K., Leckman J.F., Cohen D.J., Kidd J.R., Como P., and Sparkes R. Segregation and linkage analyses of Tourette's syndrome and related disorders. J Am Acad Child Adolesc Psychiatry 29 (1990) 195-203
48. Price R.A., Pauls D.L., Kruger S.D., and Caine E.D. Family data support a dominant major gene for Tourette syndrome. Psychiatry Res 24 (1988) 251-261
49. Seuchter S.A., Hebebrand J., Klug B., Knapp M., Lehmkuhl G., Poustka F., Schmidt M., Remschmidt H., and Baur M.P. Complex segregation analysis of families ascertained through Gilles de la Tourette syndrome. Genet Epidemiol 18 (2000) 33-47
50. Comings D.E., Comings B.G., and Knell E. Hypothesis: homozygosity in Tourette syndrome. Am J Med Genet 34 (1989) 413-421
51. Hanna P.A., Janjua F.N., Contant C.F., and Jankovic J. Bilineal transmission in Tourette syndrome. Neurology 53 (1999) 813-818
52. Kurlan R., Eapen V., Stern J., McDermott M.P., and Robertson M.M. Bilineal transmission in Tourette's syndrome families. Neurology 44 (1994) 2336-2342
53. Price R.A., Kidd K.K., Cohen D.J., Pauls D.L., and Leckman J.F. A twin study of Tourette syndrome. Arch Gen Psychiatry 42 (1985) 815-820
54. Hyde T.M., Aaronson B.A., Randolph C., Rickler K.C., and Weinberger D.R. Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins. Neurology 42 3 Pt 1 (1992) 652-658
55. Barr C.L., Wigg K.G., Pakstis A.J., Kurlan R., Pauls D., Kidd K.K., Tsui L.C., and Sandor P. Genome scan for linkage to Gilles de la Tourette syndrome. Am J Med Genet 88 (1999) 437-445
56. Curtis D., Brett P., Dearlove A.M., McQuillin A., Kalsi G., Robertson M.M., and Gurling H.M. Genome scan of Tourette syndrome in a single large pedigree shows some support for linkage to regions of chromosomes 5, 10 and 13. Psychiatr Genet 14 (2004) 83-87
57. Leppert M., Peiffer A., and Snyder B. Two loci of interest in a family with Tourette syndrome. Am J Hum Genet Suppl 59 (1996) A225
58. Tourette Syndrome Association International Consortium for Genetics. A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. The Tourette Syndrome Association International Consortium for Genetics. Am J Hum Genet 65 (1999) 1428-1436
59. Tourette Syndrome Association International Consortium for Genetics. Genome scan for Tourette disorder in affected-sibling-pair and multigenerational families. Am J Hum Genet 80 (2007) 265-272
60. Scharf J.M., and Pauls D.L. Genetics of tic disorders. In: Rimoin D., Connor J.M., Pyeritz R.E., and Korf B.R. (Eds). Emery and Rimoin's principles and practices of medical genetics (2007), Churchill Livingstone/Elsevier, Philadelphia 2737-2754
61. Cook E.H., and Scherer S.W. Copy-number variations associated with neuropsychiatric conditions. Nature 455 (2008) 919-923
62. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A., Green T., Platt O.S., Ruderfer D.M., Walsh C.A., Altshuler D., Chakravarti A., Tanzi R.E., Stefansson K., Santangelo S.L., Gusella J.F., Sklar P., Wu B.L., and Daly M.J. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358 (2008) 667-675
63. Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., Nord A.S., Kusenda M., Malhotra D., Bhandari A., Stray S.M., Rippey C.F., Roccanova P., Makarov V., Lakshmi B., Findling R.L., Sikich L., Stromberg T., Merriman B., Gogtay N., Butler P., Eckstrand K., Noory L., Gochman P., Long R., Chen Z., Davis S., Baker C., Eichler E.E., Meltzer P.S., Nelson S.F., Singleton A.B., Lee M.K., Rapoport J.L., King M.C., and Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320 (2008) 539-543
64. Stefansson H., Rujescu D., Cichon S., Pietilainen O.P., Ingason A., Steinberg S., Fossdal R., Sigurdsson E., Sigmundsson T., Buizer-Voskamp J.E., Hansen T., Jakobsen K.D., Muglia P., Francks C., Matthews P.M., Gylfason A., Halldorsson B.V., Gudbjartsson D., Thorgeirsson T.E., Sigurdsson A., Jonasdottir A., Jonasdottir A., Bjornsson A., Mattiasdottir S., Blondal T., Haraldsson M., Magnusdottir B.B., Giegling I., Moller H.J., Hartmann A., Shianna K.V., Ge D., Need A.C., Crombie C., Fraser G., Walker N., Lonnqvist J., Suvisaari J., Tuulio-Henriksson A., Paunio T., Toulopoulou T., Bramon E., Di Forti M., Murray R., Ruggeri M., Vassos E., Tosato S., Walshe M., Li T., Vasilescu C., Muhleisen T.W., Wang A.G., Ullum H., Djurovic S., Melle I., Olesen J., Kiemeney L.A., Franke B., Sabatti C., Freimer N.B., Gulcher J.R., Thorsteinsdottir U., Kong A., Andreassen O.A., Ophoff R.A., Georgi A., Rietschel M., Werge T., Petursson H., Goldstein D.B., Nothen M.M., Peltonen L., Collier D.A., St Clair D., and Stefansson K. Large recurrent microdeletions associated with schizophrenia. Nature 455 (2008) 232-236
65. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455 (2008) 237-241
66. Robertson M.M., and Trimble M.R. Normal chromosomal findings in Gilles de la Tourette syndrome. Psychiatric Genetics 3 (1993) 95-99
67. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, W. DA, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Wolff R, Becker R, Nasir R, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. Submitted for publication.
68. Feuk L., Carson A.R., and Scherer S.W. Structural variation in the human genome. Nat Rev Genet 7 (2006) 85-97
69. Shelley B.P., Robertson M.M., and Turk J. An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?. J Intellect Disabil Res 51 Pt 8 (2007) 620-624
70. Dehning S., Riedel M., and Muller N. Father-to-son transmission of 6;17 translocation in Tourette's syndrome. Am J Psychiatry 165 (2008) 1051-1052
71. Boghosian-Sell L., Comings D.E., and Overhauser J. Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am J Hum Genet 59 (1996) 999-1005
72. Kroisel P.M., Petek E., Emberger W., Windpassinger C., Wladika W., and Wagner K. Candidate region for Gilles de la Tourette syndrome at 7q31. Am J Med Genet 101 (2001) 259-261
73. Petek E., Windpassinger C., Vincent J.B., Cheung J., Boright A.P., Scherer S.W., Kroisel P.M., and Wagner K. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 68 (2001) 848-858
74. Petek E., Schwarzbraun T., Noor A., Patel M., Nakabayashi K., Choufani S., Windpassinger C., Stamenkovic M., Robertson M.M., Aschauer H.N., Gurling H.M., Kroisel P.M., Wagner K., Scherer S.W., and Vincent J.B. Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics 277 (2007) 71-81
75. Crawford F.C., Ait-Ghezala G., Morris M., Sutcliffe M.J., Hauser R.A., Silver A.A., and Mullan M.J. Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder. Hum Genet 113 (2003) 154-161
76. Matsumoto N., David D.E., Johnson E.W., Konecki D., Burmester J.K., Ledbetter D.H., and Weber J.L. Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome. Eur J Hum Genet 8 (2000) 875-883
77. Donnai D. Gene location in Tourette syndrome. Lancet 1 (1987) 627
78. State M.W., Greally J.M., Cuker A., Bowers P.N., Henegariu O., Morgan T.M., Gunel M., DiLuna M., King R.A., Nelson C., Donovan A., Anderson G.M., Leckman J.F., Hawkins T., Pauls D.L., Lifton R.P., and Ward D.C. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proc Natl Acad Sci U S A 100 (2003) 4684-4689
79. Cuker A., State M.W., King R.A., Davis N., and Ward D.C. Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22. Am J Med Genet A 130A (2004) 37-39
80. Verkerk A.J., Mathews C.A., Joosse M., Eussen B.H., Heutink P., and Oostra B.A. CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82 (2003) 1-9
81. Belloso J.M., Bache I., Guitart M., Caballin M.R., Halgren C., Kirchhoff M., Ropers H.H., Tommerup N., and Tumer Z. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 15 (2007) 711-713
82. Taylor L.D., Krizman D.B., Jankovic J., Hayani A., Steuber P.C., Greenberg F., Fenwick R.G., and Caskey CT. 9p Monosomy in a patient with Gilles de la Tourette's syndrome. Neurology 41 (1991) 1513-1515
83. Singh D.N., Howe G.L., Jordan H.W., and Hara S. Tourette's syndrome in a black woman with associated triple X and 9p mosaicism. J Natl Med Assoc 74 (1982) 675-682
84. Brett P.M., Curtis D., Robertson M.M., and Gurling H.M. The genetic susceptibility to Gilles de la Tourette syndrome in a large multiple affected British kindred: linkage analysis excludes a role for the genes coding for dopamine D1, D2, D3, D4, D5 receptors, dopamine beta hydroxylase, tyrosinase, and tyrosine hydroxylase. Biol Psychiatry 37 (1995) 533-540
85. Gelernter J., Kennedy J.L., Grandy D.K., Zhou Q.Y., Civelli O., Pauls D.L., Pakstis A., Kurlan R., Sunahara R.K., Niznik H.B., et al. Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor. Am J Psychiatry 150 (1993) 449-453
86. Thompson M., Comings D.E., Feder L., George S.R., and O'Dowd B.F. Mutation screening of the dopamine D1 receptor gene in Tourette's syndrome and alcohol dependent patients. Am J Med Genet 81 (1998) 241-244
87. Chou I.C., Tsai C.H., Lee C.C., Kuo H.T., Hsu Y.A., Li C.I., and Tsai F.J. Association analysis between Tourette's syndrome and dopamine D1 receptor gene in Taiwanese children. Psychiatr Genet 14 (2004) 219-221
88. Tarnok Z., Ronai Z., Gervai J., Kereszturi E., Gadoros J., Sasvari-Szekely M., and Nemoda Z. Dopaminergic candidate genes in Tourette syndrome: association between tic severity and 3′ UTR polymorphism of the dopamine transporter gene. Am J Med Genet B Neuropsychiatr Genet 144B (2007) 900-905
89. Devor E.J., Grandy D.K., Civelli O., Litt M., Burgess A.K., Isenberg K.E., van de Wetering B.J., and Oostra B. Genetic linkage is excluded for the D2-dopamine receptor lambda HD2G1 and flanking loci on chromosome 11q22-q23 in Tourette syndrome. Hum Hered 40 (1990) 105-108
90. Gelernter J., Pakstis A.J., Pauls D.L., Kurlan R., Gancher S.T., Civelli O., Grandy D., and Kidd K.K. Gilles de la Tourette syndrome is not linked to D2-dopamine receptor. Arch Gen Psychiatry 47 (1990) 1073-1077
91. Gelernter J., Pauls D.L., Leckman J., Kidd K.K., and Kurlan R. D2 dopamine receptor alleles do not influence severity of Tourette's syndrome. Results from four large kindreds. Arch Neurol 51 (1994) 397-400
92. Diaz-Anzaldua A., Joober R., Riviere J.B., Dion Y., Lesperance P., Richer F., Chouinard S., and Rouleau G.A. Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population. Mol Psychiatry 9 (2004) 272-277
93. Nothen M.M., Hebebrand J., Knapp M., Hebebrand K., Camps A., von Gontard A., Wettke-Schafer R., Lisch S., Cichon S., Poustka F., et al. Association analysis of the dopamine D2 receptor gene in Tourette's syndrome using the haplotype relative risk method. Am J Med Genet 54 (1994) 249-252
94. Comings D.E., Comings B.G., Muhleman D., Dietz G., Shahbahrami B., Tast D., Knell E., Kocsis P., Baumgarten R., Kovacs B.W., et al. The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders. JAMA 266 (1991) 1793-1800
95. Comings D.E., Wu S., Chiu C., Ring R.H., Gade R., Ahn C., MacMurray J.P., Dietz G., and Muhleman D. Polygenic inheritance of Tourette syndrome, stuttering, attention deficit hyperactivity, conduct, and oppositional defiant disorder: the additive and subtractive effect of the three dopaminergic genes-DRD2, D beta H, and DAT1. Am J Med Genet 67 (1996) 264-288
96. Devor E.J. The D2 dopamine receptor and Tourette's syndrome. JAMA 267 (1992) 651 author reply 652
97. Lee C.C., Chou I.C., Tsai C.H., Wang T.R., Li T.C., and Tsai F.J. Dopamine receptor D2 gene polymorphisms are associated in Taiwanese children with Tourette syndrome. Pediatr Neurol 33 (2005) 272-276
98. Brett P., Robertson M., Gurling H., and Curtis D. Failure to find linkage and increased homozygosity for the dopamine D3 receptor gene in Tourette's syndrome. Lancet 341 (1993) 1225
99. Devor E.J., Dill-Devor R.M., and Magee H.J. The Bal I and Msp I polymorphisms in the dopamine D3 receptor gene display, linkage disequilibrium with each other but no association with Tourette syndrome. Psychiatr Genet 8 (1998) 49-52
100. Hebebrand J., Nothen M.M., Lehmkuhl G., Poustka F., Schmidt M., Propping P., and Remschmidt H. Tourette's syndrome and homozygosity for the dopamine D3 receptor gene. German Tourette's Syndrome Collaborative Research Group. Lancet 341 (1993) 1483-1484
101. Comings D.E., Muhleman D., Dietz G., Dino M., LeGro R., and Gade R. Association between Tourette's syndrome and homozygosity at the dopamine D3 receptor gene. Lancet 341 (1993) 906
102. Barr C.L., Wigg K.G., Zovko E., Sandor P., and Tsui L.C. No evidence for a major gene effect of the dopamine D4 receptor gene in the susceptibility to Gilles de la Tourette syndrome in five Canadian families. Am J Med Genet 67 (1996) 301-305
103. Comings D.E., Gonzalez N., Wu S., Gade R., Muhleman D., Saucier G., Johnson P., Verde R., Rosenthal R.J., Lesieur H.R., Rugle L.J., Miller W.B., and MacMurray JP. Studies of the 48 bp repeat polymorphism of the DRD4 gene in impulsive, compulsive, addictive behaviors: Tourette syndrome, ADHD, pathological gambling, and substance abuse. Am J Med Genet 88 (1999) 358-368
104. Hebebrand J., Nothen M.M., Ziegler A., Klug B., Neidt H., Eggermann K., Lehmkuhl G., Poustka F., Schmidt M.H., Propping P., and Remschmidt H. Nonreplication of linkage disequilibrium between the dopamine D4 receptor locus and Tourette syndrome. Am J Hum Genet 61 (1997) 238-239
105. Cruz C., Camarena B., King N., Paez F., Sidenberg D., de la Fuente J.R., and Nicolini H. Increased prevalence of the seven-repeat variant of the dopamine D4 receptor gene in patients with obsessive-compulsive disorder with tics. Neurosci Lett 231 (1997) 1-4
106. Grice D.E., Leckman J.F., Pauls D.L., Kurlan R., Kidd K.K., Pakstis A.J., Chang F.M., Buxbaum J.D., Cohen D.J., and Gelernter J. Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. Am J Hum Genet 59 (1996) 644-652
107. Barr C.L., Wigg K.G., Zovko E., Sandor P., and Tsui L.C. Linkage study of the dopamine D5 receptor gene and Gilles de la Tourette syndrome. Am J Med Genet 74 (1997) 58-61
108. Ozbay F., Wigg K.G., Turanli E.T., Asherson P., Yazgan Y., Sandor P., and Barr C.L. Analysis of the dopamine beta hydroxylase gene in Gilles de la Tourette syndrome. Am J Med Genet B Neuropsychiatr Genet 141B (2006) 673-677
109. Gelernter J., Vandenbergh D., Kruger S.D., Pauls D.L., Kurlan R., Pakstis A.J., Kidd K.K., and Uhl G. The dopamine transporter protein gene (SLC6A3): primary linkage mapping and linkage studies in Tourette syndrome. Genomics 30 (1995) 459-463
110. Vandenbergh D.J., Thompson M.D., Cook E.H., Bendahhou E., Nguyen T., Krasowski M.D., Zarrabian D., Comings D., Sellers E.M., Tyndale R.F., George S.R., O'Dowd B.F., and Uhl G.R. Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations. Mol Psychiatry 5 (2000) 283-292
111. Yoon D.Y., Rippel C.A., Kobets A.J., Morris C.M., Lee J.E., Williams P.N., Bridges D.D., Vandenbergh D.J., Shugart Y.Y., and Singer H.S. Dopaminergic polymorphisms in Tourette syndrome: association with the DAT gene (SLC6A3). Am J Med Genet B Neuropsychiatr Genet 144B (2007) 605-610
112. Rowe D.C., Stever C., Gard J.M., Cleveland H.H., Sanders M.L., Abramowitz A., Kozol S.T., Mohr J.H., Sherman S.L., and Waldman I.D. The relation of the dopamine transporter gene (DAT1) to symptoms of internalizing disorders in children. Behav Genet 28 (1998) 215-225
113. Gade R., Muhleman D., Blake H., MacMurray J., Johnson P., Verde R., Saucier G., and Comings D.E. Correlation of length of VNTR alleles at the X-linked MAOA gene and phenotypic effect in Tourette syndrome and drug abuse. Mol Psychiatry 3 (1998) 50-60
114. Barr C.L., Wigg K.G., and Sandor P. Catechol-O-methyltransferase and Gilles de la Tourette syndrome. Mol Psychiatry 4 (1999) 492-495
115. Cavallini M.C., Di Bella D., Catalano M., and Bellodi L. An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome. Psychiatry Res 97 (2000) 93-100
116. Xu C., Ozbay F., Wigg K., Shulman R., Tahir E., Yazgan Y., Sandor P., and Barr C.L. Evaluation of the genes for the adrenergic receptors alpha 2A and alpha 1C and Gilles de la Tourette Syndrome. Am J Med Genet B Neuropsychiatr Genet 119B (2003) 54-59
117. Chou I.C., Tsai C.H., Wan L., Hsu Y.A., and Tsai F.J. Association study between Tourette's syndrome and polymorphisms of noradrenergic genes (ADRA2A, ADRA2C). Psychiatr Genet 17 (2007) 359
118. Stober G., Hebebrand J., Cichon S., Bruss M., Bonisch H., Lehmkuhl G., Poustka F., Schmidt M., Remschmidt H., Propping P., and Nothen M.M. Tourette syndrome and the norepinephrine transporter gene: results of a systematic mutation screening. Am J Med Genet 88 (1999) 158-163
119. Rippel C.A., Kobets A.J., Yoon D.Y., Williams P.N., Shugart Y.Y., Bridges D.D., Vandenbergh D.J., and Singer H.S. Norepinephrine transporter polymorphisms in Tourette syndrome with and without attention deficit hyperactivity disorder: no evidence for significant association. Psychiatr Genet 16 (2006) 179-180
120. Brett P.M., Curtis D., Robertson M.M., and Gurling H.M. Neuroreceptor subunit genes and the genetic susceptibility to Gilles de la Tourette syndrome. Biol Psychiatry 42 (1997) 941-947
121. Brett P.M., Curtis D., Robertson M.M., and Gurling H.M. Exclusion of the 5-HT1A serotonin neuroreceptor and tryptophan oxygenase genes in a large British kindred multiply affected with Tourette's syndrome, chronic motor tics, and obsessive-compulsive behavior. Am J Psychiatry 152 (1995) 437-440
122. Erdmann J., Shimron-Abarbanell D., Cichon S., Albus M., Maier W., Lichtermann D., Minges J., Reuner U., Franzek E., Ertl M.A., et al. Systematic screening for mutations in the promoter and the coding region of the 5-HT1A gene. Am J Med Genet 60 (1995) 393-399
123. Huang Y., Liu X., Li T., Guo L., Sun X., Xiao X., Ma X., Wang Y., and Collier D.A. Cases-control association study and transmission disequilibrium test of T102C polymorphism in 5HT2A and Tourette syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18 (2001) 11-13
124. Dickel D.E., Veenstra-VanderWeele J., Bivens N.C., Wu X., Fischer D.J., Van Etten-Lee M., Himle J.A., Leventhal B.L., Cook E.H., and Hanna G.L. Association studies of serotonin system candidate genes in early-onset obsessive-compulsive disorder. Biol Psychiatry 61 (2007) 322-329
125. Niesler B., Frank B., Hebebrand J., and Rappold G. Serotonin receptor genes HTR3A and HTR3B are not involved in Gilles de la Tourette syndrome. Psychiatr Genet 15 (2005) 303-304
126. Gelernter J., Rao P.A., Pauls D.L., Hamblin M.W., Sibley D.R., and Kidd K.K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome. Genomics 26 (1995) 207-209
127. Comings D.E., Gade R., Muhleman D., Chiu C., Wu S., To M., Spence M., Dietz G., Winn-Deen E., Rosenthal R.J., Lesieur H.R., Rugle L., Sverd J., Ferry L., Johnson J.P., and MacMurray J.P. Exon and intron variants in the human tryptophan 2,3-dioxygenase gene: potential association with Tourette syndrome, substance abuse and other disorders. Pharmacogenetics 6 (1996) 307-318
128. Comings D.E., Chen C., Wu S., and Muhleman D. Association of the androgen receptor gene (AR) with ADHD and conduct disorder. NeuroReport 10 (1999) 1589-1592
129. Hebebrand J., Nothen M.M., Klug B., Wettke-Schafer R., Camps A., Lisch S., Hemmer S., von Gontard A., Poustka F., Lehmkuhl G., et al. No association between length of the (CAG)n repeat of the Huntington's disease gene and Tourette's syndrome. Biol Psychiatry 37 (1995) 209-211
130. Schoenian S., Konig I., Oertel W., Remschmidt H., Ziegler A., Hebebrand J., and Bandmann O. HLA-DRB genotyping in Gilles de la Tourette patients and their parents. Am J Med Genet B Neuropsychiatr Genet 119B (2003) 60-64
131. Huang Y., Li T., Wang Y., Ansar J., Lanting G., Liu X., Zhao J.H., Hu X., Sham P.C., and Collier D. Linkage disequilibrium analysis of polymorphisms in the gene for myelin oligodendrocyte glycoprotein in Tourette's syndrome patients from a Chinese sample. Am J Med Genet B Neuropsychiatr Genet 124B (2004) 76-80
132. Miranda D.M., Wigg K., Feng Y., Sandor P., and Barr C.L. Association study between Gilles de la Tourette Syndrome and two genes in the Robo-Slit pathway located in the chromosome 11q24 linked/associated region. Am J Med Genet B Neuropsychiatr Genet 147B (2008) 68-72
133. Mossner R., Muller-Vahl K.R., Doring N., and Stuhrmann M. Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome. Mol Psychiatry 12 (2007) 617-619
134. Altshuler D., Daly M.J., and Lander E.S. Genetic mapping in human disease. Science 322 (2008) 881-888
135. Abelson J.F., Kwan K.Y., O'Roak B.J., Baek D.Y., Stillman A.A., Morgan T.M., Mathews C.A., Pauls D.L., Rasin M.R., Gunel M., Davis N.R., Ercan-Sencicek A.G., Guez D.H., Spertus J.A., Leckman J.F., LSt D., Kurlan R., Singer H.S., Gilbert D.L., Farhi A., Louvi A., Lifton R.P., Sestan N., and State M.W. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310 (2005) 317-320
136. Keen-Kim D., Mathews C.A., Reus V.I., Lowe T.L., Herrera L.D., Budman C.L., Gross-Tsur V., Pulver A.E., Bruun R.D., Erenberg G., Naarden A., Sabatti C., and Freimer N.B. Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Hum Mol Genet 15 (2006) 3324-3328
137. Zuchner S., Cuccaro M.L., Tran-Viet K.N., Cope H., Krishnan R.R., Pericak-Vance M.A., Wright H.H., and Ashley-Koch A. SLITRK1 mutations in trichotillomania. Mol Psychiatry 11 (2006) 887-889
138. Scharf J.M., Moorjani P., Fagerness J., Platko J.V., Illmann C., Galloway B., Jenike E., Stewart S.E., and Pauls D.L. Lack of association between SLITRK1var321 and Tourette syndrome in a large family-based sample. Neurology 70 16 Pt 2 (2008) 1495-1496
139. Deng H., Le W.D., Xie W.J., and Jankovic J. Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome. Acta Neurol Scand 114 (2006) 400-402
140. Chou I.C., Wan L., Liu S.C., Tsai C.H., and Tsai F.J. Association of the Slit and Trk-like 1 gene in Taiwanese patients with Tourette syndrome. Pediatr Neurol 37 (2007) 404-406
141. Miranda D.M., Wigg K., Kabia E.M., Feng Y., Sandor P., and Barr C.L. Association of SLITRK1 to Gilles de la Tourette Syndrome. Am J Med Genet B Neuropsychiatr Genet 150B (2009) 483-486
142. Zimprich A., Hatala K., Riederer F., Stogmann E., Aschauer H.N., and Stamenkovic M. Sequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorder. Psychiatr Genet 18 (2008) 308-309
143. Verkerk A.J., Cath D.C., van der Linde H.C., Both J., Heutink P., Breedveld G., Aulchenko Y.S., and Oostra B.A. Genetic and clinical analysis of a large Dutch Gilles de la Tourette family. Mol Psychiatry 11 (2006) 954-964
144. Wendland J.R., Kruse M.R., and Murphy D.L. Functional SLITRK1 var321, varCDfs and SLC6A4 G56A variants and susceptibility to obsessive-compulsive disorder. Mol Psychiatry 11 (2006) 802-804
145. Fabbrini G., Pasquini M., Aurilia C., Berardelli I., Breedveld G., Oostra B.A., Bonifati V., and Berardelli A. A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene. Mov Disord 22 (2007) 2229-2234
146. Orth M., Djarmati A., Baumer T., Winkler S., Grunewald A., Lohmann-Hedrich K., Kabakci K., Hagenah J., Klein C., and Munchau A. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. Mov Disord 22 (2007) 2090-2096
147. Pasquini M., Fabbrini G., Berardelli I., Bonifati V., Biondi M., and Berardelli A. Psychopathological features of obsessive-compulsive disorder in an Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 gene. Psychiatry Res 161 (2008) 109-111
148. Manolio T.A., Brooks L.D., and Collins F.S. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118 (2008) 1590-1605
149. McCarroll S.A., Kuruvilla F.G., Korn J.M., Cawley S., Nemesh J., Wysoker A., Shapero M.H., de Bakker P.I., Maller J.B., Kirby A., Elliott A.L., Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins P.J., Handsaker R., Lincoln S., Nizzari M., Blume J., Jones K.W., Rava R., Daly M.J., Gabriel S.B., and Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40 (2008) 1166-1174
150. Wang K., Li M., Hadley D., Liu R., Glessner J., Grant S.F., Hakonarson H., and Bucan M. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17 (2007) 1665-1674
151. Dudbridge F., and Gusnanto A. Estimation of significance thresholds for genomewide association scans. Genet Epidemiol 32 (2008) 227-234
152. Purcell S., Cherny S.S., and Sham P.C. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19 (2003) 149-150
153. Klein R.J., Zeiss C., Chew E.Y., Tsai J.Y., Sackler R.S., Haynes C., Henning A.K., SanGiovanni J.P., Mane S.M., Mayne S.T., Bracken M.B., Ferris F.L., Ott J., Barnstable C., and Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science 308 (2005) 385-389
154. Gudbjartsson D.F., Walters G.B., Thorleifsson G., Stefansson H., Halldorsson B.V., Zusmanovich P., Sulem P., Thorlacius S., Gylfason A., Steinberg S., Helgadottir A., Ingason A., Steinthorsdottir V., Olafsdottir E.J., Olafsdottir G.H., Jonsson T., Borch-Johnsen K., Hansen T., Andersen G., Jorgensen T., Pedersen O., Aben K.K., Witjes J.A., Swinkels D.W., den Heijer M., Franke B., Verbeek A.L., Becker D.M., Yanek L.R., Becker L.C., Tryggvadottir L., Rafnar T., Gulcher J., Kiemeney L.A., Kong A., Thorsteinsdottir U., and Stefansson K. Many sequence variants affecting diversity of adult human height. Nat Genet 40 (2008) 609-615
155. Lettre G., Jackson A.U., Gieger C., Schumacher F.R., Berndt S.I., Sanna S., Eyheramendy S., Voight B.F., Butler J.L., Guiducci C., Illig T., Hackett R., Heid I.M., Jacobs K.B., Lyssenko V., Uda M., Boehnke M., Chanock S.J., Groop L.C., Hu F.B., Isomaa B., Kraft P., Peltonen L., Salomaa V., Schlessinger D., Hunter D.J., Hayes R.B., Abecasis G.R., Wichmann H.E., Mohlke K.L., and Hirschhorn J.N. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet 40 (2008) 584-591
156. Weedon M.N., Lango H., Lindgren C.M., Wallace C., Evans D.M., Mangino M., Freathy R.M., Perry J.R., Stevens S., Hall A.S., Samani N.J., Shields B., Prokopenko I., Farrall M., Dominiczak A., Johnson T., Bergmann S., Beckmann J.S., Vollenweider P., Waterworth D.M., Mooser V., Palmer C.N., Morris A.D., Ouwehand W.H., Zhao J.H., Li S., Loos R.J., Barroso I., Deloukas P., Sandhu M.S., Wheeler E., Soranzo N., Inouye M., Wareham N.J., Caulfield M., Munroe P.B., Hattersley A.T., McCarthy M.I., and Frayling T.M. Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 40 (2008) 575-583
157. Visscher P.M. Sizing up human height variation. Nat Genet 40 (2008) 489-490
158. Reich D.E., and Lander E.S. On the allelic spectrum of human disease. Trends Genet 17 (2001) 502-510
159. Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet 69 (2001) 124-137
160. Xu Z., He Z., Huang K., Tang W., Li Z., Tang R., Xu Y., Feng G., He L., and Shi Y. No genetic association between NCAM1 gene polymorphisms and schizophrenia in the Chinese population. Prog Neuropsychopharmacol Biol Psychiatry 32 (2008) 1633-1636
161. Ferreira M.A., Sham P., Daly M.J., and Purcell S. Ascertainment through family history of disease often decreases the power of family-based association studies. Behav Genet 37 (2007) 631-636
162. Sklar P., Smoller J.W., Fan J., Ferreira M.A., Perlis R.H., Chambert K., Nimgaonkar V.L., McQueen M.B., Faraone S.V., Kirby A., de Bakker P.I., Ogdie M.N., Thase M.E., Sachs G.S., Todd-Brown K., Gabriel S.B., Sougnez C., Gates C., Blumenstiel B., Defelice M., Ardlie K.G., Franklin J., Muir W.J., McGhee K.A., MacIntyre D.J., McLean A., VanBeck M., McQuillin A., Bass N.J., Robinson M., Lawrence J., Anjorin A., Curtis D., Scolnick E.M., Daly M.J., Blackwood D.H., Gurling H.M., and Purcell S.M. Whole-genome association study of bipolar disorder. Mol Psychiatry 13 (2008) 558-569
163. WTCCC, Consortium WTCC. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447 (2007) 661-678