The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia
Abstract
An excess dopaminergic activity may be implicated in the etiology of schizophrenia. Our objective was to identify nucleotide variants in the 5' region of the dopamine D2 receptor gene (DRD2) and to clarify their effects on schizophrenia. We identified two polymorphisms, the A-241G and -141C Ins/Del, by examination of 259 bp in the 5'-flanking region and 249 bp of exon 1 of DRD2. Reporter constructs containing the -141C Del allele cloned into a luciferase reporter plasmid drove 21% (Y-79 cells) and 43% (293 cells) expression compared with the -141C Ins allele. In a case-control study, the -141C Del allele frequency was significantly lower in 260 schizophrenic patients than in 312 controls (OR = 0.60, 95%CI 0.44-0.81, P < 0.001). No significant association was found between the A-241G polymorphism and in vitro luciferase activity, or in allele frequency between the patients versus controls. These findings show that the -141C Ins/Del may be a functional polymorphism in the 5'-promoter region of DRD2 and may affect the susceptibility to schizophrenia.
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Cites
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Association of dopamine D2 receptor molecular variant with schizophrenia
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Self-citationA Structural Polymorphism of Human Dopamine D2 Receptor D2(Ser311 → Cys)
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Cited by
Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900
Jönsson, E. G., Nöthen, M. M., Grünhage, F., Farde, L., Nakashima, Y., Propping, P., & Sedvall, G. C. (1999) · Molecular Psychiatry · doi:10.1038/sj.mp.4000532 · Cited by 721
D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes
Noble, E. P. (2003) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.10005 · Cited by 501
Zhang, Y., Bertolino, A., Fazio, L., Blasi, G., Rampino, A., Romano, R., Lee, M.-L. T., Xiao, T., Papp, A., Wang, D., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707106104 · Cited by 423
Forbes, E. E., Brown, S. M., Kimak, M., Ferrell, R. E., Manuck, S. B., & Hariri, A. R. (2009) · Molecular Psychiatry · doi:10.1038/sj.mp.4002086 · Cited by 408
Metadata
- Authors
- Arinami, T.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-04-01
- Volume
- 6
- Issue
- 4
- Pages
- 577-582
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2140915307
- Cited by
- 455
- References
- 24
- FWCI
- 14.96
- Type
- journal article
- Language
- en
- Open access
- closed
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