Serotonin transporter promoter variants in autism: Functional effects and relationship to platelet hyperserotonemia

Molecular Psychiatry

Volumn 7, Issue 8, 2002, Pages 831-836

  Anderson, George M ^a   Gutknecht, L ^b   Cohen, D J ^a   Brailly Tabard, S ^c   Cohen, J H M ^d   Ferrari, P ^e   Roubertoux, P L ^b   Tordjman, S ^b,e  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b FRE 2134 CNRS Genetics Neurogenetics and Behavior   (France)

^c Service d' Anesthésie réanimation   (United States)

^d UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

^e UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

5 HTTLPR; Autism; Platelet 5 HT uptake; Platelet hyperserotonemia; Serotonin transporter; SLC6A4 locus

Indexed keywords

RADIOLIGAND; SEROTONIN; SEROTONIN TRANSPORTER;

ADOLESCENT; ALLELE; ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE LOCUS; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIGAND BINDING; MALE; PRIORITY JOURNAL; PROMOTER REGION; RANK SUM TEST; SEROTONIN UPTAKE;

ADOLESCENT; AUTISTIC DISORDER; BLOOD PLATELETS; CARRIER PROTEINS; CHILD; CITALOPRAM; FEMALE; GENOTYPE; HUMANS; LINEAR MODELS; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; NERVE TISSUE PROTEINS; PROMOTER REGIONS (GENETICS); SEROTONIN; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS; SEROTONIN UPTAKE INHIBITORS; VARIATION (GENETICS);

EID: 0036384167     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001099     Document Type: Article

References (43)

1. Anderson GM, Horne WC, Chatterjee D, Cohen DJ. The hyperserotonemia of autism. Ann N Y Acad Sci 1990; 600: 331-342.
2. Cook EH. Autism: review of neurochemical investigation. Synapse 1990; 6: 292-308.
3. Launay JM, Ferrari P, Haimart M, Burzstein C, Tabuteau F, Braconnier A et al. Serotonin metabolism and other biochemical parameters in infantile autism. Neuropsychobiology 1988; 20: 1-11.
4. McBride PA, Anderson GM, Hertzig ME, Snow ME, Thompson SM, Khait VD et al. Effects of diagnosis, race, and puberty on platelet serotonin levels in autism and mental retardation. J Amer Acad Child Adolesc Psychiatry 1998; 37: 767-779.
5. McBride PA, Anderson GM, Hertzig ME, Sweeney JA, Kream J, Cohen DJ et al. Serotonergic responsivity in male young adults with autistic disorder: results of a pilot study. Arch Gen Psychiatry 1989; 46: 213-221.
6. Novotny S, Hollander E, Allen A, Mosovich S, Aronowitz B, Cartwright C et al. Increased growth hormone response to sumatriptan challenge in adult autistic disorders. Psychiatry Research 2000; 94: 173-177.
7. Cook EH, Rowlett R, Jaselskis C, Leventhal BL. Fluoxetine treatment of children and adults with autistic disorder and mental retardation. J Am Acad Child Adolesc Psychiatry 1992; 31: 739-745.
8. Gordon CT, State RC, Nelson JE, Hamburger SD, Rapoport JL. A double-blind comparison of clomipramine, desipramine, and placebo in the treatment of autistic disorder. Arch Gen Psychiatry 1993; 50: 441-447.
9. McDougle CJ, Naylor ST, Cohen DJ, Volkmar FR, Heninger GR, Price LH. A double-blind, placebo-controlled study of fluvoxamine in adults with autistic disorder. Arch Gen Psychiatry 1996; 53: 1001-1008.
10. Moiseiwitsch JR, Lauder JM. Serotonin regulates mouse cranial neural crest migration. Proc Natl Acad Sci U S A 1995; 92: 7182-7186.
11. 1a receptors and S-100 beta in development and plasticity. Perspect Dev Neurobiol 1994; 2: 233-238.
12. Anderson GM, Minderaa RB, Cho SC, Volkmar FR, Cohen DJ. The issue of hyperserotonemia and platelet serotonin exposure: a preliminary study. J Autism Dev Disorders 1989; 19: 349-351.
13. Cook EH Jr, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A et al. Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 1997; 2: 247-250.
14. Klauck SM, Poustka F, Benner A, Lesch K, Poutska A. Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet 1997; 6: 2233-2238.
15. Tordjman S, Gutknecht L, Carlier M, Spitz E, Antoine C, Slama F et al. Role of the serotonin transporter in the behavioral expression of autism. Mol Psychiatry 2001; 6: 434-439.
16. Gelernter J, Kranzler H, Cubells JF. Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African and European American and Japanese populations and in alcohol dependent subjects. Hum Genet 1997; 101: 243-246.
17. Lesch KP, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S et al. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 1996; 247: 1527-1531.
18. Hanna GL, Himle JA, Curtis GC, Koram DQ, Weele JVV, Leventhal Bl et al. Serotonin transporter and seasonal variation in blood serotonin in families with obsessive-compulsive disorder. Neuropsychopharmacology 1998; 18: 102-111.
19. Greenberg BD, Tolliver TJ, Huang SJ, Li Q, Bengel D, Murphy DL. Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets. Am J Med Genet 1999; 88: 83-87.
20. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th edn (DSM-IV). American Psychiatric Association: Washington DC, 1994.
21. Mises R, Quemada N. CIM-10 (ICD-10) et Classification Française des Troubles Mentaux de l'Enfant et de l'Adolescent (CFTMEA) (3rd edn). CTNERHI, Vanves, Fr, diffusion PUF, 1993.
22. Le Couteur A, Rutter M, Lord C, Rios P, Robertson S, Holdgrafer M et al. Autism diagnostic interview: a standardized investigator-based instrument. J Autism Der Disorders 1989; 19: 363-387.
23. Anastasi A. Psychological Testing 6th edn. Macmillan: New York, 1988.
24. Tanner JH. Growth of Adolescents. Blackwell Scientific Publications: Oxford, 1962.
25. Anderson GM, Feibel FC, Cohen DJ. Determination of serotonin in whole blood, platelet-rich plasma, platelet-poor plasma and plasma ultrafiltrate. Life Sci 1987; 40: 1063-1070.
26. Anderson GL, Horne WC. Activators of protein kinase C decrease serotonin transport in human platelets. Biochim Biophys Acta 1992; 17: 331-337.
27. Rudnick G, Kirk KL, Fishkes H, Schuldiner S. Zwitterionic and anionic forms of a serotonin analog as transport substrate. J Biol Chem 1989; 264: 14865-14868.
28. Anderson GM, Minderaa RB, Van Benthem P-PG, Volkmar FR, Cohen DJ. Platelet imipramine binding in autistic subjects. Psychiatry Res 1984; 11: 133-141.
29. Nobile M, Begni B, Giorda R, Frigerio A, Marino C, Molteni M et al. Effects of serotonin transporter genotype on platelet serotonin transporter functionality in depressed children and adolescents. J Am Acad Child Adolesc Psychiatry 1999; 38: 1396-1402.
30. Meltzer HY, Arora RC. Genetic control of serotonin uptake in blood platelets: a twin study. Psychiatry Res 1988; 24: 263-269.
31. 3H-Imipramine binding in the blood platelets of normal twins. Psychiatry Res 1990; 32: 265-273.
32. Heinz A, Jones DW, Mazzanti C, Goldman D, Ragan P, Hommer D et al. Relationship between serotonin transporter genotype and in vivo protein expression and alcohol neurotoxicity. Biol Psychiatry 2000; 47: 643-649.
33. Little KY, McLaughlin DP, Zhang L, Livermore CS, Dalack GW, McFinton PR et al. Cocaine, ethanol, and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels. Am J Psychiatry 1998; 155: 207-213.
34. Mann JJ, Huang YY, Underwood MD, Kassir SA, Oppenheim S, Kelly TM et al. A serotonin transporter gene promoter polymorphism (5-HTTLPR) and prefrontal cortical binding in major depression and suicide. Arch Gen Psychiatry 2000; 57: 729-738.
35. Brammer GL, McGuire MT, Rayleigh MJ. Vervet monkey whole blood serotonin level is determined by platelet uptake sites. Life Sci 1987; 41: 1539-1546.
36. Carrasco G, Cruz MA, Gallardo V, Miguel P, Lagos M, Gonzalez C. Plasma and platelet concentration and platelet uptake of serotonin in normal and pre-eclamptic pregnancies. Life Sci 1998; 62: 1323-1332.
37. Stahl SM, Ciaranello RD, Berger PA. Platelet serotonin in schizophrenia and depression. In: Ho BT et al (eds). Serotonin in Biological Psychiatry. Raven Press: New York, 1982, pp 183-198.
38. Raisman R, Briley MS, Bouchami F, Sechter D, Zarifian E, Langer SZ. 3H-Imipramine binding and serotonin uptake in platelets from untreated depressed patients and control volunteers. Psychopharmacology 1982; 77: 332-335.
39. Narayan M, Anderson G, Cellar J, Mallison RT, Price LH, Nelson JC. Serotonin transporter-blocking properties of nefazodone assessed by measurement of platelet serotonin. J Clin Psychopharmacol 1998; 18: 67-71.
40. Kema IP, de Vries EGE, Sloof MJH, Biesma B, Muskiet FAJ. Serotonin, catecholamines, histamine, and their metabolites in urine, platelets, and tumor tissue of patients with carcinoid tumors. Clin Chem 1997; 40: 86-95.
41. Anderson GM, Stevenson JM, Cohen DJ. Steady-state model for plasma free and platelet serotonin in man. Life Sci 1987; 41: 1777-1785.
42. Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A et al. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. Am J Med Genet 1999; 88: 492-496.
43. Persico AM, Militerni R, Bravaccio C, Schneider C, Melmed R, Conciatori M et al. 2000. Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. Am J Med Genet 2000; 96: 123-127.