C957T

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The C957T gene polymorphism is a synonymous mutation located within the 957th base pair of the DRD2 gene. This base pair is located in exon 7. Most synonymous mutations are silent. However, the C957T mutation is an exception to this rule. While the 957C allele codes for the same polypeptide as the 957T allele, the conformation of 957T messenger RNA differs from the conformation of 957C messenger RNA. 957T messenger RNA is less stable and more prone to degradation. Dopamine D2 receptor expression is increased among individuals who carry the 957T allele compared to individuals who carry the 957C allele (in contrast to the original article publication, which has since been corrected). [1] [2]

Contents


Behaviours associated with the C/C genotype of the C957T polymorphism

Given that the C/C genotype has been associated with dissocial personality disorder one may infer that this genotype may also be associated with all four DSM-IV defined cluster B personality disorders. This hypothesis, however, has not been tested.

Rapid screening of the C957T and the TaqIA polymorphisms

Given the importance of the C957T and TaqIA polymorphisms for the diagnosis and treatment of psychological disorder, a rapid screening protocol for these genes has been developed. [14] Since the DRD2 1101A allele nulls the effects of the 957T allele, [15] screens for the 957C allele which ignore the 1101A allele can sometimes lead to false negatives.

References

  1. ↑ Hirvonen, M; Laakso, A; Någren, K; Rinne, J O; Pohjalainen, T; Hietala, J (2004). "C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo". Molecular Psychiatry. 9 (12): 1060–1061. doi: 10.1038/sj.mp.4001561 . ISSN   1359-4184. PMID   15278099.
  2. ↑ Hirvonen, M (25 August 2005). "Erratum: C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo" . Molecular Psychiatry. 10 (889). doi: 10.1038/sj.mp.4001707 . Retrieved 16 March 2023.
  3. ↑ Lawford, Bruce R. (2005). "The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia" (PDF). Schizophrenia Research. 73 (1): 31–37. doi:10.1016/j.schres.2004.08.020. PMID   15567074. S2CID   14885436.
  4. ↑ Hänninen, Kari (2006). "Association between the C957T polymorphism of the dopamine D2 receptor gene and schizophrenia". Neuroscience Letters. 407 (3): 195–198. doi:10.1016/j.neulet.2006.08.041. PMID   16973280. S2CID   42733897.
  5. ↑ Xu, H; Kellendonk, CB; Simpson, EH; Keilp, JG; Bruder, GE; Polan, HJ; Kandel, ER; Gilliam, TC (2007). "DRD2 C957T polymorphism interacts with the COMT Val158Met polymorphism in human working memory ability". Schizophrenia Research. 90 (1–3): 104–107. doi:10.1016/j.schres.2006.10.001. PMID   17113268. S2CID   14189016.
  6. ↑ Jacobsen LK, Pugh KR, Mencl WE, Gelernter J (2006). "C957T polymorphism of the dopamine D2 receptor gene modulates the effect of nicotine on working memory performance and cortical processing efficiency". Psychopharmacology. 188 (4): 530–40. doi:10.1007/s00213-006-0469-1. PMID   16896957. S2CID   21282840.
  7. ↑ White MJ, Lawford BR, Morris CP, Young RM (2009). "Interaction between DRD2 C957T polymorphism and an acute psychosocial stressor on reward-related behavioral impulsivity" (PDF). Behav. Genet. 39 (3): 285–95. doi:10.1007/s10519-008-9255-7. PMID   19148742. S2CID   9125225.
  8. ↑ Eny, Karen M.; Corey, Paul N.; El-Sohemy, Ahmed (2009). "Dopamine D2 Receptor Genotype (C957T) and Habitual Consumption of Sugars in a Free-Living Population of Men and Women". Journal of Nutrigenetics and Nutrigenomics. 2 (4–5): 235–242. doi: 10.1159/000276991 . ISSN   1661-6758. PMID   20357494. S2CID   25531156.
  9. ↑ Cambridge Journals Online - Abstract
  10. ↑ Mo, GH; Lai, IC; Wang, YC; Chen, JY; Lin, CY; Chen, TT; Chen, ML; Liou, YJ; Liao, DL; Bai, YM; Lin, CC (2007). "Support for an association of the C939T polymorphism in the human DRD2 gene with tardive dyskinesia in schizophrenia". Schizophrenia Research. 97 (1–3): 302–304. doi:10.1016/j.schres.2007.06.026. PMID   17669630. S2CID   37815421.
  11. ↑ Huertas, E. (2010). "The D2 dopamine receptor gene variant C957T affects human fear conditioning and aversive priming". Genes, Brain and Behavior. 9 (1): 103–109. doi:10.1111/j.1601-183X.2009.00543.x. PMID   19900188.
  12. ↑ Ponce, G.; Hoenicka, J.; Jiménez-Arriero, M. A.; Rodríguez-Jiménez, R.; Aragüés, M.; Martín-Suñé, N.; Huertas, E.; Palomo, T. (2018). "DRD2 and ANKK1 genotype in alcohol-dependent patients with psychopathic traits: Association and interaction study". British Journal of Psychiatry. 193 (2): 121–125. doi: 10.1192/bjp.bp.107.041582 . ISSN   0007-1250. PMID   18669994.
  13. ↑ Voisey, Joanne (2009). "The DRD2 gene 957C>T polymorphism is associated with Posttraumatic Stress Disorder in war veterans" (PDF). Depression and Anxiety. 26 (1): 28–33. doi:10.1002/da.20517. PMID   18833581. S2CID   1698669.>T polymorphism is associated with Posttraumatic Stress Disorder in war veterans - Voisey - 2008 - Depression and Anxiety - Wiley Online Library]
  14. ↑ Stefan P, Moritz E, Alexander W, Weber M, Norbert D, Annette W, Thomas F, Andreas P (2009). "Development of a high-throughput method for screening the dopamine D2 (DRD2) receptor gene polymorphisms based on the LightCycler system". Clinical Laboratory. 55 (9–10): 353–8. PMID   20099571.
  15. ↑ Duan, J. (2003). "Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor". Human Molecular Genetics. 12 (3): 205–216. doi: 10.1093/hmg/ddg055 . ISSN   1460-2083. PMID   12554675.
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