Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Volumn 40, Issue 1, 2013, Pages 292-297

  Gadow, Kenneth D ^a   DeVincent, Carla J ^b   Siegal, Victoria I ^a   Olvet, Doreen M ^c   Kibria, Saniya ^d   Kirsch, Sarah F ^d   Hatchwell, Eli ^a  

^a STONY BROOK UNIVERSITY   (United States)

^b Stony Brook School of Dental Medicine   (United States)

^c NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

^d STONY BROOK UNIVERSITY   (United States)

Author keywords

5 HTTLPR; Attention deficit hyperactivity disorder; Autism spectrum disorder; Serotonin; SLC6A4 gene

Indexed keywords

SEROTONIN TRANSPORTER;

ADOLESCENT; ALLELE; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CHILD; DISEASE SEVERITY; DSM-IV; FEMALE; GENE DOSAGE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERACTIVITY; IMPULSIVENESS; MAJOR CLINICAL STUDY; MALE; MOTHER; PARENT; PRESCHOOL CHILD; PSYCHOLOGICAL RATING SCALE; SCHOOL CHILD; SEROTONIN TRANSPORTER GENE; SOCIAL DISABILITY; TEACHER;

ADOLESCENT; ALLELES; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS;

EID: 84869398509     PISSN: 02785846     EISSN: 18784216     Source Type: Journal    
DOI: 10.1016/j.pnpbp.2012.10.019     Document Type: Article

References (77)

1. Abramson R.K., Wright H.H., Carpenter R., Brennan W., Lumpuy O., Cole E., et al. Elevated blood serotonin in autistic probands and their first-degree relatives. J Autism Dev Disord 1989, 19:397-407.
2. Altamura C., Dell'Acqua M.L., Moessner R., Murphy D.L., Lesch K.P., Persico A.M. Altered neocortical cell density and layer thickness in serotonin transporter knockout mice: a quantitation study. Cereb Cortex 2007, 17:1394-1401.
3. Azmitia E.C., Singh J.S., Whitaker-Azmitia P.M. Increased serotonin axons (immunoreactive to 5-HT transporter) in postmortem brains from young autism donors. Neuropharmacology 2011, 60:1347-1354.
4. Belsky J., Jonassaint C., Pluess M., Stanton M., Brummett B., Williams R. Vulnerability genes or plasticity genes?. Mol Psychiatry 2009, 14:746-754.
5. Bonnin A., Goeden N., Chen K., Wilson M.L., King J., Shih J.C., et al. A transient placental source of serotonin for the fetal forebrain. Nature 2011, 472:347-350.
6. Brummett B.H., Boyle S.H., Siegler I.C., Kuhn C.M., Ashley-Koch A., Jonassiant C.R., et al. Effects of environmental stress and gender on associations among symptoms of depression and serotonin transporter gene linked polymorphic region (5-HTTLPR). Behav Genet 2008, 38:34-43.
7. Brune C.W., Kim S.J., Salt J., Leventhal B.L., Lord C., Cook E.H. 5-HTTLPR genotype-specific phenotype in children and adolescents with autism. Am J Psychiatry 2006, 163:2148-2156.
8. Ciarlegio C.M., Resuehr H.E.S., McMahon D.G. Interactions of the serotonin and circadian systems: nature and nurture in rhythms and blues. Neuroscience 2011, 197:8-16.
9. Cohen J. Statistical power analysis for the behavioral sciences 1988, Lawrence Erlbaum, Mahwah, NJ. 2nd ed.
10. Cook E.H., Courchense R., Lord C., Cox N.J., Yan S., Lincoln A., et al. Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 1997, 2:247-250.
11. Crespi B., Stead P., Elliot M. Comparative genomics of autism and schizophrenia. Proc Natl Acad Sci U S A 2010, 107(Suppl. 1):1736-1741.
12. Crespi B.J., Thiselton D.L. Comparative immunogenetics of autism and schizophrenia. Genes Brain Behav 2011, 10:689-701.
13. DeVincent C.J., Gadow K.D. Relative clinical utility of three Child Symptom Inventory-4 scoring algorithms for differentiating children with autism spectrum disorder versus attention-deficit hyperactivity disorder. Autism Res 2009, 2:312-321.
14. Devlin B., Cook E.H., Coon H., Dawson G., Grigorenko E.L., McMahon W., et al. Autism and the serotonin transporter: the long and the short of it. Mol Psychiatry 2005, 10:1110-1116.
15. Ebstein R.P. The molecular genetic architecture of human personality: beyond self-report questionnaires. Mol Psychiatry 2006, 11:427-445.
16. Fan X., Bruno K.J., Hess E.J. Rodent models of ADHD. Current topics in behavioral science 2011, 9. Springer-Verlag, Berlin. C. Stanford, R. Tannock (Eds.).
17. Fox E., Zougkou K., Ridgewell A., Garner K. The serotonin transporter gene alters sensitivity to attention bias modification: evidence for a plasticity gene. Biol Psychiatry 2011, 70:1049-1054.
18. Gadow K.D., Sprafkin J. Stony Brook Child Psychiatric Checklist-3 1986, Department of Psychiatry, State University of New York, Stony Brook.
19. Gadow K.D., Sprafkin J. Child Symptom Inventory-4 screening and norms manual 2002, Checkmate Plus, Stony Brook, NY.
20. Gadow K.D., Sprafkin J. The symptom inventories: an annotated bibliography [on-line] 2011, Checkmate Plus, Stony Brook, NY, [Available: www.checkmateplus.com].
21. Gadow K.D., DeVincent C.J. Comparison of children with autism spectrum disorder with and without schizophrenia spectrum traits: Gender, season of birth, and mental health risk factors. J Autism Dev Disord 2012, 42:2285-2296.
22. Gadow K.D., Drabick D.A.G. Symptoms of autism and schizophrenia spectrum disorder in clinically referred youth with oppositional defiant disorder. Res Dev Disabil 2012, 33:1157-1168.
23. Gadow K.D., Nolan E.E., Sprafkin J., Schwartz J. Tics and psychiatric comorbidity in children and adolescents. Dev Med Child Neurol 2002, 44:330-338.
24. Gadow K.D., DeVincent C.J., Pomeroy J., Azizian A. Comparison of DSM-IV symptoms in elementary school-aged children with PDD versus clinic and community samples. Autism 2005, 9:392-415.
25. Gadow K.D., DeVincent C.J., Pomeroy J. ADHD symptom subtypes in children with pervasive developmental disorder. J Autism Dev Disord 2006, 36:271-283.
26. Gadow K.D., DeVincent C.J., Drabick D.A.G. Oppositional defiant disorder as a clinical phenotype in children with autism spectrum disorder. J Autism Dev Disord 2008, 38:1302-1310.
27. Gadow K.D., Roohi J., DeVincent C.J., Hatchwell E. Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder. J Child Psychol Psychiatry 2008, 49:1331-1338.
28. Gadow K.D., Schwartz J., DeVincent C., Strong G., Cuva S. Clinical utility of autism spectrum disorder scoring algorithms for the Child Symptom Inventory. J Autism Dev Disord 2008, 38:419-427.
29. Gadow K.D., Guttmann-Steinmetz S., Rieffe C., DeVincent C.J. Depression symptoms in boys with autism spectrum disorder and comparison samples. J Autism Dev Disord 2012, 42:1353-1363.
30. Gizer I.R., Ficks C., Waldman I.D. Candidate gene studies of ADHD: a meta-analytic review. Hum Genet 2009, 126:51-90.
31. Guerini F.R., Bolognesi E., Chiappedi M., Manca S., Ghezzo A., Agliardi C., et al. SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. Pharmacol Res 2011, 64:283-288.
32. Guttmann-Steinmetz S., Gadow K.D., DeVincent C.J., Crowell J. Anxiety symptoms in boys with autism spectrum disorder, attention-deficit hyperactivity disorder, or chronic multiple tic disorder and community controls. J Autism Dev Disord 2010, 40:1006-1016.
33. Hariri A.R., Drabant E.M., Munoz K.E., Kolachana B.S., Mattay V.S., Egan M.F., et al. A susceptibility gene for affective disorders and the response of the human amygdala. Arch Gen Psychiatry 2005, 62:146-152.
34. Heils A., Teufel A., Petri S., Stober G., Riederer P., Bengel D., et al. Allelic variation of human serotonin transporter gene expression. J Neurochem 1996, 66:2621-2624.
35. Hollingshead A.B. Four factor index of social status 1975, Department of Sociology, Yale University, New Haven, CT.
36. Hu V.W., Sarachana T., Kim K.S., Nguyen A.T., Kulkarni S., Steinberg M.E., et al. Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res 2009, 2:78-97.
37. Hu X.Z., Lipsky R.H., Zhu G., Akhtar L.A., Taubman J., Greenberg B.D., et al. Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder. Am J Hum Genet 2006, 78:815-826.
38. Huang C.H., Santangelo S.L. Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 2008, 147B:903-913.
39. Kistner-Griffin E., Brune C., Davis L.K., Sutcliffe J.S., Cox N.J., Cook E.H. Parent-of-origin effects of the serotonin transporter gene associated with autism. Am J Med Genet B Neuropsychiatr Genet 2011, 156:139-144.
40. Klauck S.M., Poustka F., Benner A., Lesch K., Poustka A. Serotonin transporter gene (5-HTT) variants associated with autism?. Hum Mol Genet 1997, 6:2232-2238.
41. Komers P. Behavioural plasticity in variable environments. Can J Zool 1997, 75:161-169.
42. Kronenberg S., Frisch A., Carmel M., Apter A., Weizman A. Pharmacogenetics of selective serotonin reuptake inhibitors in pediatric depression and anxiety. Pharmacogenomics 2008, 9:1725-1736.
43. Kuepper Y., Wielpuetz C., Alexander N., Mueller E., Grant P., Hennig J. 5-HTTLPR S-allele: a genetic plasticity factor regarding the effects of life events on personality?. Genes Brain Behav 2012, 11:643-650.
44. Lam K.S.L., Aman M.G., Arnold L.E. Neurochemical correlates of autistic disorder: a review of the literature. Res Dev Disabil 2006, 27:254-289.
45. Landaas E.T., Johansson S., Jacobsen K.K., Ribasés M., Bosch R., Sánchez-Mora C., et al. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes Brain Behav 2010, 9:449-458.
46. Lecavalier L., Gadow K.D., DeVincent C.J., Edwards M.C. Validation of DSM-IV model of psychiatric syndromes in children with autism spectrum disorder. J Autism Dev Disord 2009, 39:278-289.
47. Lecavalier L., Gadow K.D., DeVincent C.J., Houts C., Edwards M.C. Deconstructing the PDD clinical phenotype: internal validity of the DSM-IV. J Child Psychol Psychiatry 2009, 50:1246-1254.
48. Lee L.C., Newschaffer C.J., Lessler J.T., Lee B.K., Shah R., Zimmerman A.W. Variation in season of birth in singleton and multiple births concordant for autism spectrum disorder. Pediatr Perinat Epidemiol 2008, 22:172-179.
49. Lesch K.P., Balling U., Gross J., Strauss K., Wolozin B.L., Murphy D.L., et al. Organization of the human serotonin transporter gene. J Neural Transm Gen Sect 1994, 95:157-162.
50. Lord C., Risi S., Lambrecht L., Cook E.H., Leventhal B.L., DiLavore P.C., et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000, 30:205-223.
51. MacKenzie A., Quinn J. A serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo. Proc Natl Acad Sci U S A 1999, 96:15,251-15,255.
52. McNamara I.M., Borella A.W., Bialowas L.A., Whitaker-Azmitia P.M. Further studies in the developmental hyperserotonemia model (DHS) of autism. Brain Res 2008, 1189:203-214.
53. Mulder E.J., Anderson G.M., Kema I.P., Brugman A.M., Ketelaars C.E.J., de Bildt A., et al. Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. Am J Med Genet B Neuropsychiatr Genet 2005, 133:93-96.
54. Murphy D.G.M., Daly E., Schmitz N., Toal F., Murphy K., Curran S., et al. Cortical serotonin 5-HT2A receptor binding and social communication in adults with Asperger's syndrome: an in vivo SPECT study. Am J Psychiatry 2006, 163:934-936.
55. Murphy D.L., Fox M.A., Timpano K.R., Moya P.R., Ren-Patterson R., Andrews A.M., et al. How the serotonin story is being rewritten by new gene-based discoveries principally related to SLC6A4, the serotonin transporter gene, which functions to influence all cellular serotonin systems. Neuropharmacology 2008, 55:932-960.
56. Nakamura K., Sekine Y., Ouchi Y., Tsujii M., Yoshikawa E., Futatsubashi M., et al. Brain serotonin and dopamine transporter bindings in adults with high-functioning autism. Arch Gen Psychiatry 2010, 67:59-68.
57. Piersma T., Drent J. Phenotypic flexibility and the evolution of organismal design. Trends Ecol Evol 2003, 18:228-233.
58. 11C] DASB positron emission tomography study. Biol Psychiatry 2007, 62:327-331.
59. Ramocki M.B., Zoghbi H.Y. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 2008, 455:912-918.
60. Rommelse N.N.J., Geurts H.M., Franke B., Buitelaar J.K., Hartman C.A. A review on cognitive and brain endophenotypes that may be common in autism spectrum disorder and attention-defict/hyperactivity disorder and facilitate the search for pleiotropic genes. Neurosci Biobehav Rev 2011, 35:1363-1396.
61. Roohi J., DeVincent C.J., Hatchwell E., Gadow K.D. Association of a monoamine oxidase-a gene promoter polymorphism with ADHD and anxiety in boys with autism spectrum disorder. J Autism Dev Disord 2009, 39:67-74.
62. Rutter M., LeCouteur A., Lord C. Autism Diagnostic Interview-Revised 2003, Western Psychological Services, Los Angeles, CA.
63. Schain R.J., Freedman D.X. Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children. J Pediatr 1961, 58:315-320.
64. Serretti A., Calati R., Mandelli L., De Ronchi D. Serotonin transporter gene variants and behavior: a comprehensive review. Curr Drug Targets 2006, 7:1659-1669.
65. Shapiro A.K., Shapiro E.S., Young J.G., Feinberg T.E. Gilles de la Tourette syndrome 1988, Raven Press, New York. 2nd ed.
66. Simonoff E., Pickles A., Charman T., Chandler S., Loucas T., Baird G. Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. J Am Acad Child Adolesc Psychiatry 2008, 47:921-929.
67. Sizoo B., van den Brink W., Franke B., Vasquez A.A., van Wijngaarden-Cremers P., van der Gaag R.J. Do candidate genes discriminate patients with autism spectrum disorder from those with attention-deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders?. World J Biol Psychiatry 2010, 11:699-708.
68. Sporn A.L., Addington A.M., Gogtay N., Ordoñez A.E., Gornick M., Clasen L., et al. Pervasive developmental disorder and childhood-onset schizophrenia: comorbid disorder or a phenotypic variant of a very early onset illness. Biol Psychiatry 2004, 55:989-994.
69. Tordjman S., Gutknecht L., Carlier M., Spitz E., Antoine C., Slama F., et al. Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry 2001, 6:434-439.
70. Tudor M.E., DeVincent C.J., Gadow K.D. Prenatal pregnancy complications and psychiatric symptoms: children with ASD versus clinic controls. Res Autism Spectrum Disord 2012, 6:1401-1405.
71. Veenstra-VanderWeele J., Muller C.L., Iwamoto H., Sauer J.E., Owens W.A., Shah C.R., et al. Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior. Proc Natl Acad Sci U S A 2012, 109:5469-5474.
72. Wassink T.H., Hazlett H.C., Epping E.A., Arndt S., Dager S.R., Schellenberg G.D., et al. Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism. Arch Gen Psychiatry 2007, 64:709-717.
73. Wendland J., Martin B., Kruse M., Lesch K., Murphy D. Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531. Mol Psychiatry 2006, 11:224-226.
74. Whitaker-Azmitia P.M. Serotonin and brain development: role in human developmental diseases. Brain Res Bull 2001, 56:479-485.
75. Willeit M., Praschak-Rieder N. Imaging the effects of genetic polymorphisms on radioligand binding in the living human brain: a review on genetic neuroreceptor imaging of monoaminergic systems in psychiatry. Neuroimage 2010, 53:878-892.
76. Wilson S.W. Adaptive individual differences within single populations. Phil Trans R Soc Lond 1998, 353:199-205.
77. Zhang H., Smith G.N., Liu X., Holden J.J.A. Association of MAOA, 5-HTT, and NET promoter polymorphisms with gene expression and protein activity in human placentas. Physiol Genomics 2010, 42:85-92.