Serotonin transporter promoter and intron 2 polymorphisms: Relationship between allelic variants and gene expression

Biological Psychiatry

Volumn 55, Issue 11, 2004, Pages 1090-1094

  Hranilovic, Dubravka ^a   Stefulj, Jasminka ^a   Schwab, Sibylle ^b   Borrmann Hassenbach, Margitta ^c   Albus, Margot ^c   Jernej, Branimir ^a   Wildenauer, Dieter ^b  

^a RUDER BO KOVI INSTITUTE   (Croatia)

^b UNIVERSITY OF BONN   (Germany)

^c KLINIKUM MÜNCHEN OST   (Germany)

Author keywords

5 HTTLPR; 5 hydroxytryptamine; lymphoblasts; mRNA; real time PCR; schizophrenia; VNTR 2

Indexed keywords

BETA ACTIN; MESSENGER RNA; SEROTONIN; SEROTONIN TRANSPORTER;

ADULT; ALLELE; ARTICLE; BASE PAIRING; CELL LINE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; INTRON; LYMPHOBLAST; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; PRIORITY JOURNAL; PROGENY; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; SCHIZOPHRENIA; STATISTICAL SIGNIFICANCE; VARIABLE NUMBER OF TANDEM REPEAT;

ADULT; ANALYSIS OF VARIANCE; CARRIER PROTEINS; FAMILY HEALTH; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; LYMPHOCYTES; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MINISATELLITE REPEATS; NERVE TISSUE PROTEINS; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SCHIZOPHRENIA; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS;

EID: 2542447453     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biopsych.2004.01.029     Document Type: Article

References (46)

1. Battersby S., Ogilvie A.D., Blackwood D.H., Shen S., Muquit M.M., Muir W.J., et al. Presence of multiple functional polyadenylation signals and a single nucleotide polymorphism in the 3′ untranslated region of the human serotonin transporter gene. J Neurochem. 72:1999;1384-1388
2. Bonnet-Brilhault F., Laurent C., Thibaut F., Campion D., Chavand O., Samolyk D., et al. Serotonin transporter gene polymorphism and schizophrenia An association study. Biol Psychiatry. 42:1997;634-636
3. Bradley C.C., Blakely R.D. Alternative splicing of the human serotonin transporter gene. J Neurochem. 69:1997;1356-1367
4. Bustin S.A. Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays. J Mol Endocrinology. 25:2000;169-193
5. Catalano M. Functionally gene-linked polymorphic regions and genetically controlled neurotransmitters metabolism. Eur Neuropsychopharmacol. 11:2001;431-439
6. Fiskerstrand C.E., Lovejoy E.A., Quinn J.P. An intronic polymorphic domain often associated with susceptibility to affective disorders has allele dependent differential enhancer activity in embryonic stem cells. FEBS Lett. 458:1999;171-174
7. Flattem N.L., Blakely R.D. Modified structure of the human serotonin transporter promoter. Mol Psych. 5:2000;110-115
8. Gelenter J., Cubells J.F., Kidd J.R., Pakstis A.J., Kidd K.K. Population studies of polymorphisms of the serotonin transporter protein gene. Am J Med Genet. 88:1999;61-66
9. Greenberg B.D., Tolliver T.J., Huang S.J., Li Q., Bengel D., Murphy D.L. Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets. Am J Med Genet. 88:1999;83-87
10. Hanna G.L., Himle J.A., Curtis G.C., Koram D.Q., Weele J.V.V., Leventhal B.L., Cook E.H. Serotonin transporter and seasonal variation in blood serotonin in families with obsessive-compulsive disorder. Neuropsychopharmacol. 18:1998;102-111
11. Hariri A.R., Mattay V.S., Tessitore A., Kolachana B., Fera F., Goldman D., et al. Serotonin transporter genetic variation and the response of the human amygdala. Science. 297:2002;400-403
12. Heils A., Teufel A., Petri S., Stober G., Riederer P., Bengel D., Lesch K.P. Allelic variation of human serotonin transporter gene expression. J Neurochem. 66:1996;1-4
13. Heinz A., Jones D.W., Mazzanti C., Goldman D., Ragan P., Hommer D., et al. A relationship between serotonin transporter genotype and in vivo protein expression and alcohol neurotoxicity. Biol Psychiatry. 47:2000;643-649
14. Herken H., Erdal M.E., Aynacioglu A.S., Barlas O., Cataloluk O., Esgi K., et al. Frequency of the 17-bp variable number of tandem repeat polymorphism in Turkish schizophrenic patients. Schizophr Res. 58:2002;99-100
15. Hernandez I., Sokolov B.P. Abnormal expression of serotonin transporter mRNA in the frontal and temporal cortex of schizophrenics. Mol Psych. 2:1997;57-64
16. Hranilovic D., Schwab S.G., Jernej B., Knapp M., Lerer B., Albus M., et al. Serotonin transporter gene and schizophrenia Evidence for association/linkage disequilibrium in families with affected siblings. Mol Psych. 5:2000;91-95
17. Jonsson E.G., Nothen M.M., Gustavsson J.P., Neidt H., Bunzel R., Propping P., Sedvall G.C. Polymorphisms in the dopamine, serotonin, and norepinephrine transporter genes and their relationships to monoamine metabolite concentrations in CSF of healthy volunteers. Psychiatry Res. 79:1998;1-9
18. Joyce J.N., Shane A., Lexov N., Winokur A., Casanova M.F., Kleinman J.E. Serotonin uptake sites and serotonin receptors are altered in the limbic system of schizophrenics. Neuropsychopharmacology. 8:1993;315-336
19. Kaiser R., Muller-Oerlinghausen B., Filler D., Tremblay P.B., Berghofer A., Roots I., Brockmoller J. Correlation between serotonin uptake in human blood platelets with the 44-bp polymorphism and the 17-bp variable number of tandem repeat of the serotonin transporter. Am J Med Genet. 114:2002;323-328
20. Kaiser R., Tremblay P.B., Schmider J., Henneken M., Dettling M., Muller-Oerlinghausen B., et al. Serotonin transporter polymorphisms No association with response to antipsychotic treatment, but associations with the schizoparanoid and residual subtypes of schizophrenia. Mol Psych. 6:2001;179-185
21. Lesch K.P. Variation of serotonergic gene expression Neurodevelopment and the complexity of response to psychopharmacologic drugs. Eur Neuropsychopharmacol. 11:2001;457-474
22. Lesch K.P., Balling U., Gross J., Strauss K., Wolozin B.L., Murphy D.L., Riederer P. Organization of the human serotonin transporter gene. J Neural Trans Gen Sect. 95:1994;157-162
23. Lesch K.P., Bengel D., Heils A., Sabol S.Z., Greenberg B.D., Petri S., et al. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science. 274:1996;1527-1531
24. Lesch K.P., Mossner R. Genetically driven variation in serotonin uptake Is there a link to affective spectrum, neurodevelopmental, and neurodegenerative disorders? Biol Psychiatry. 44:1998;179-192
25. Little K.Y., McLaughlin D.P., Zhang L., Livermore C.S., Dalack G.W., McFinton P.R., et al. Cocaine, ethanol, and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels. Am J Psychiatry. 155:1998;207-213
26. Liu W.Q., Gu N.F., Feng G.Y., Li S., Bai S.C., Zhang J.G., et al. Tentative association of the serotonin transporter with schizophrenia and unipolar depression but not with bipolar disorder in Han Chinese. Pharmacogenetics. 9:1999;491-495
27. Lovejoy E.A., Scott A.C., Fiskerstrand C.E., Bubb V.J., Quinn J.P. The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit. Eur J Neuroscience. 17:2003;417-420
28. 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 USA. 96:1999;15251-15255
29. Malhotra A.K., Goldman D., Mazzanti C., Clifton A., Breier A., Pickar D. A functional transporter (5-HTT) polymorphism is associated with psychosis in neuroleptic-free schizophrenics. Mol Psych. 3:1998;328-332
30. McGuffin P., Farmer A., Harvey I. A polydiagnostic application of operational criteria in studies of psychotic illness. Development and reliability of OPCRIT system. Arch Gen Psychiatry. 48:1991;764-770
31. Mendes de Oliveira J.R., Otto P.A., Vallada H., Lauriano V., Elkis H., Lafer B. Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in Brazilian patients affected by bipolar disorder and schizophrenia. Am J Med Genet. 81:1998;225-227
32. Mortensen O.V., Thomassen M., Larsen M.B., Whittemore S.R., Wiborg O. Functional analysis of a novel human serotonin transporter gene promoter in immortalized raphe cells. Brain Res Mol Brain Res. 68:1999;141-148
33. Mossner R., Daniel S., Albert D., Heils A., Okladnova O., Schmitt A., Lesch K.P. Serotonin transporter function is modulated by brain-derived neurotrophic factor (BNDF) but not nerve growth factor (NGF). Neurochem Int. 36:2000;197-202
34. Naylor L., Dean B., Opeskin K., Pavey G., Hill C., Keks N., et al. Changes in serotonin transporter in the hippocampus of subjects with schizophrenia identified using (3H) paroxetine. J Neural Trans Gen Sect. 103:1996;749-757
35. Naylor L., Dean B., Pereira A., Mackinnon A., Kouzmenko A., Copolov D. No association between the serotonin transporter-linked promoter region polymorphism and either schizophrenia or density of the serotonin transporter in human hippocampus. Mol Med. 4:1998;671-674
36. Nobile M., Begni B., Giorda R., Frigerio A., Marino C., Molteni M., et al. Effects of serotonin transporter promoter genotype on platelet serotonin transporter functionality in depressed children and adolescents. J Am Acad Child Adolesc Psychiatry. 38:1999;1396-1402
37. Prasad S., Semwal P., Deshpande S., Bhatia T., Nimgaonkar V.L., Thelma B.K. Molecular genetics of schizophrenia Past, present and future. J Biosci. 27:(Suppl 1):2002;35-52
38. Rammamoorthy S., Bauman A.L., Moore K.R., Han H., Yang-Feng T., Chang A.S., et al. Antidepressant- and cocaine-sensitive human serotonin transporter Molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci USA. 90:1993;2542-2546
39. Rao D., Jonsson E.G., Paus S., Ganguli R., Noethen M., Nimgaonkar V.L. Schizophrenia and the serotonin transporter gene. Psychiatr Genet. 8:1998;207-212
40. Sakai K., Nakamura M., Ueno S., Sano A., Sakai N., Shirai Y., Saito N. The silencer activity of the novel human serotonin transporter linked polymorphic regions. Neurosci Lett. 327:2002;13-16
41. Serretti A., Catalano M., Smeraldi E. Serotonin transporter gene is not associated with symptomatology of schizophrenia. Schizophr Res. 35:1999;33-39
42. Shioe K., Nakamura M., Ueno S., Sano A., Sakai N., Shirai Y., Saito N. No association between genotype of the promoter region of serotonin transporter gene and serotonin transporter binding in human brain measured by PET. Synapse. 48:2003;184-188
43. Stober G., Jatzke S., Heils A., Jungkunz G., Fuchs E., Knapp M., et al. Susceptibility for schizophrenia is not influenced by a functional insertion/deletion variant in the promoter of the serotonin transporter gene. Eur Arch Psychiatry Clin Neurosci. 248:1998;82-86
44. Stoltenberg S.F., Twitchell G.R., Hanna G.L., Cook E.H., Fitzgerald H.E., Zucker R.A., Little K.Y. Serotonin transporter promoter polymorphism, peripheral indexes of serotonin function, and personality measures in families with alcoholism. American J Med Genet. 114:2002;230-234
45. Tsai S.J., Ouyang W.C., Hong C.J. Association for serotonin transporter gene variable number tandem repeat polymorphism and schizophrenic disorders. Neuropsychobiology. 45:2002;131-133
46. Willeit M., Stastny J., Pirker W., Praschak-Rieder N., Neumeister A., Asenbaum S., et al. No evidence for in vivo regulation of midbrain serotonin transporter availability by serotonin transporter promoter gene polymorphism. Biol Psychiatry. 50:2001;8-12