Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Volumn 34, Issue 6, 2010, Pages 1094-1097

  Bergman, Olle ^a   Westberg, Lars ^a   Nilsson, Lars Göran ^b   Adolfsson, Rolf ^c   Eriksson, Elias ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b STOCKHOLM UNIVERSITY   (Sweden)

^c UMEÅ UNIVERSITY   (Sweden)

Author keywords

LMX1A; LMX1B; Neurodevelopment; PITX3; Schizophrenia

Indexed keywords

DOPAMINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMX1A; TRANSCRIPTION FACTOR LMX1B; TRANSCRIPTION FACTOR PITX3; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; LIM HOMEOBOX TRANSCRIPTION FACTOR 1 BETA; LIM HOMEODOMAIN PROTEIN; LMX1A PROTEIN, HUMAN;

ADULT; ARTICLE; CELL SURVIVAL; CONTROLLED STUDY; DOPAMINERGIC NERVE CELL; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NEUROTRANSMISSION; PARKINSON DISEASE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS;

ALLELES; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; TRANSCRIPTION FACTORS; LIM-HOMEODOMAIN PROTEINS;

EID: 77955050531     PISSN: 02785846     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pnpbp.2010.05.032     Document Type: Article

References (43)

1. Alavian K.N., Scholz C., et al. Transcriptional regulation of mesencephalic dopaminergic neurons: the full circle of life and death. Mov Disord 2008, 23(3):319-328.
2. Allen N.C., Bagade S., et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008, 40(7):827-834.
3. Andersson E., Tryggvason U., et al. Identification of intrinsic determinants of midbrain dopamine neurons. Cell 2006, 124(2):393-405.
4. Bergman O., Hakansson A., et al. Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease?. J Neural Transm 2009, 116(3):333-338.
5. Bergman O., Hakansson A., et al. PITX3 polymorphism is associated with early onset Parkinson's disease. Neurobiol Aging 2010, 31(1):114-117.
6. Breier A., Su T.P., et al. Schizophrenia is associated with elevated amphetamine-induced synaptic dopamine concentrations: evidence from a novel positron emission tomography method. Proc Natl Acad Sci U S A 1997, 94(6):2569-2574.
7. Carlsson A. The current status of the dopamine hypothesis of schizophrenia. Neuropsychopharmacology 1988, 1(3):179-186.
8. Carlsson A., Carlsson M.L. A dopaminergic deficit hypothesis of schizophrenia: the path to discovery. Dialogues Clin Neurosci 2006, 8(1):137-142.
9. Davis K.L., Kahn R.S., et al. Dopamine in schizophrenia: a review and reconceptualization. Am J Psychiatry 1991, 148(11):1474-1486.
10. Diagnostic and statistical manual of mental disorders: DSM-IV 1994, DSM-IV., A. P. A. T. F. o, American Psychiatric Association, Washington, DC.
11. Ekholm B., Ekholm A., et al. Evaluation of diagnostic procedures in Swedish patients with schizophrenia and related psychoses. Nord J Psychiatry 2005, 59(6):457-464.
12. Friling S., Andersson E., et al. Efficient production of mesencephalic dopamine neurons by Lmx1a expression in embryonic stem cells. Proc Natl Acad Sci U S A 2009, 106(18):7613-7618.
13. Fuchs J., Mueller J.C., et al. The transcription factor PITX3 is associated with sporadic Parkinson's disease. Neurobiol Aging 2009, 30(5):731-738.
14. Greenwood T.A., Kelsoe J.R. Promoter and intronic variants affect the transcriptional regulation of the human dopamine transporter gene. Genomics 2003, 82(5):511-520.
15. Harrison P.J., Weinberger D.R. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol Psychiatry 2005, 10(1):40-68. image 45.
16. Haubenberger D, Reinthaler E, et al. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. Neurobiol Aging (in press). [Epub ahead of print].
17. Hwang D.Y., Ardayfio P., et al. Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice. Brain Res Mol Brain Res 2003, 114(2):123-131.
18. Laruelle M., Abi-Dargham A., et al. Single photon emission computerized tomography imaging of amphetamine-induced dopamine release in drug-free schizophrenic subjects. Proc Natl Acad Sci U S A 1996, 93(17):9235-9240.
19. Le W, Nguyen D, et al. Transcription factor PITX3 gene in Parkinson's disease. Neurobiol Aging (in press). [Epub ahead of print].
20. McIntosh A.M., Baig B.J., et al. Relationship of catechol-O-methyltransferase variants to brain structure and function in a population at high risk of psychosis. Biol Psychiatry 2007, 61(10):1127-1134.
21. Murray R.M., Lewis S.W. Is schizophrenia a neurodevelopmental disorder?. Br Med J (Clin Res Ed) 1987, 295(6600):681-682.
22. Nilsson L.G., Adolfsson R., et al. Betula: a prospective cohort study on memory, health and aging. Aging, Neuropsychology and Cognition 2004, 11:134-148.
23. Nilsson L.G., Bäckman L., et al. The Betula prospective cohort study: memory, health, and aging. Aging, Neuropsychology and Cognition 1997, 4:1-32.
24. Nunes I., Tovmasian L.T., et al. Pitx3 is required for development of substantia nigra dopaminergic neurons. Proc Natl Acad Sci U S A 2003, 100(7):4245-4250.
25. Nurnberger J.I., Blehar M.C., et al. Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 1994, 51(11):849-859. discussion 863-844.
26. Ono Y., Nakatani T., et al. Differences in neurogenic potential in floor plate cells along an anteroposterior location: midbrain dopaminergic neurons originate from mesencephalic floor plate cells. Development 2007, 134(17):3213-3225.
27. Papanikolaou T., Amano T., et al. In-vitro analysis of Pitx3 in mesodiencephalic dopaminergic neuron maturation. Eur J Neurosci 2009, 29(12):2264-2275.
28. Prata D.P., Mechelli A., et al. Opposite effects of catechol-O-methyltransferase Val158Met on cortical function in healthy subjects and patients with schizophrenia. Biol Psychiatry 2009, 65(6):473-480.
29. Prata D.P., Mechelli A., et al. Epistasis between the DAT 3' UTR VNTR and the COMT Val158Met SNP on cortical function in healthy subjects and patients with schizophrenia. Proc Natl Acad Sci U S A 2009, 106(32):13600-13605.
30. Prata D.P., Mechelli A., et al. Altered effect of dopamine transporter 3'UTR VNTR genotype on prefrontal and striatal function in schizophrenia. Arch Gen Psychiatry 2009, 66(11):1162-1172.
31. Semina E.V., Murray J.C., et al. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet 2000, 9(11):1575-1585.
32. Sesack S.R., Carr D.B. Selective prefrontal cortex inputs to dopamine cells: implications for schizophrenia. Physiol Behav 2002, 77(4-5):513-517.
33. Smidt M.P., Asbreuk C.H., et al. A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b. Nat Neurosci 2000, 3(4):337-341.
34. Sullivan P.F., Kendler K.S., et al. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 2003, 60(12):1187-1192.
35. Takizawa R., Tochigi M., et al. Association between catechol-O-methyltrasferase Val108/158Met genotype and prefrontal hemodynamic response in schizophrenia. PLoS ONE 2009, 4(5):e5495.
36. Tokuhiro S., Yamada R., et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 2003, 35(4):341-348.
37. Tsuang M. Schizophrenia: genes and environment. Biol Psychiatry 2000, 47(3):210-220.
38. Tunbridge E.M., Harrison P.J., et al. Catechol-O-methyltransferase, cognition, and psychosis: Val158Met and beyond. Biol Psychiatry 2006, 60(2):141-151.
39. van den Munckhof P., Luk K.C., et al. Pitx3 is required for motor activity and for survival of a subset of midbrain dopaminergic neurons. Development 2003, 130(11):2535-2542.
40. Weinberger D.R. Implications of normal brain development for the pathogenesis of schizophrenia. Arch Gen Psychiatry 1987, 44(7):660-669.
41. Weinberger D.R., Egan M.F., et al. Prefrontal neurons and the genetics of schizophrenia. Biol Psychiatry 2001, 50(11):825-844.
42. von Ahsen N., Oellerich M. The intronic prothrombin 19911A>G polymorphism influences splicing efficiency and modulates effects of the 20210G>A polymorphism on mRNA amount and expression in a stable reporter gene assay system. Blood 2004, 103(2):586-593.
43. Zintzaras E. Brain-derived neurotrophic factor gene polymorphisms and schizophrenia: a meta-analysis. Psychiatr Genet 2007, 17(2):69-75.