rs5569

In genetics, rs5569 (A1287G or G1287A) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the SLC6A2 gene in exon 9. This gene codes the norepinephrine transporter. The SNP is a silent substitution and the nucleotides of both variants code a threonine amino acid.[1]

SNP: rs5569
Name(s)A1287G, G1287A
GeneSLC6A2
Chromosome16
RegionExon 9
External databases
EnsemblHuman SNPView
dbSNP5569
HapMap5569
SNPedia5569

Several research studies have examined the effect of the variant in relation to alcohol dependence,[2][3] attention deficit hyperactivity disorder,[4] diabetes,[5] major depressive disorder,[6][7] panic disorder,[8] Tourette syndrome[9] and personality traits.[10] None of the studies have found an association.

References
  1. dbSNP
  2. Jerzy Samochowiec, Jolanta Kucharska-Mazur, Ryszard Kaminski, Michael Smolka, Hans Rommelschpacher, Catrin Wernicke, Agnieszka Tymicz & Lutz Gerhardt Schmidt (August 2002). "Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence". Psychiatry Research. 111 (2–3): 229–33. doi:10.1016/S0165-1781(02)00145-2. PMID 12374639. S2CID 6493515.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. San-Yuan Huang, Ru-Band Lu, Kuo-Hsing Ma, Mee-Jen Shy & Wei-Wen Lin (January 2008). "Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups". Drug and Alcohol Dependence. 92 (1–3): 20–26. doi:10.1016/j.drugalcdep.2007.06.003. PMID 17630229.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. Soo-Churl Cho, Jae-Won Kim, Boong-Nyun Kim, Jun-Won Hwang, Mira Park, Soon Ae Kim, Dae-Yeon Cho, Hee-Jeong Yoo, Un-Sun Chung, Jung-Woo Son & Tae-Won Park (2008). "No evidence of an association between norepinephrine transporter gene polymorphisms and attention deficit hyperactivity disorder: a family-based and case-control association study in a Korean sample". Neuropsychobiology. 57 (3): 131–138. doi:10.1159/000138916. PMID 18552510. S2CID 7062834.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. Piotr Ksiazek, Kinga Buraczynska & Monika Buraczynska (2006). "Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes". Kidney and Blood Pressure Research. 29 (6): 338–43. doi:10.1159/000097356. PMID 17124432. S2CID 25727749.
  6. Peter Zill, Rolf Engel, Thomas C. Baghai, Georg Juckel, Thomas Frodl, Florian Muller-Siecheneder, Peter Zwanzger, Cornelius Schule, Christo Minov, Stefanie Behrens, Rainer Rupprecht, Ulrich Hegerl, Hans Jurgen Moller & Brigitta Bondy (April 2002). "Identification of a naturally occurring polymorphism in the promoter region of the norepinephrine transporter and analysis in major depression". Neuropsychopharmacology. 26 (4): 489–93. doi:10.1016/S0893-133X(01)00386-4. PMID 11927173.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. Kazuyuki Inoue, Kunihiko Itoh, Keizo Yoshida, Hisashi Higuchi, Mitsuhiro Kamata, Hitoshi Takahashi, Tetsuo Shimizu & Toshio Suzuki (October 2007). "No association of the G1287A polymorphism in the norepinephrine transporter gene and susceptibility to major depressive disorder in a Japanese population". Biological & Pharmaceutical Bulletin. 30 (10): 1996–1998. doi:10.1248/bpb.30.1996. PMID 17917281.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  8. P. G. Sand, T. Mori, C. Godau, G. Stober, P. Flachenecker, P. Franke, M. M. Nothen, J. Fritze, W. Maier, K.-P. Lesch, P. Riederer, H. Beckmann & J. Deckert (November 2002). "Norepinephrine transporter gene (NET) variants in patients with panic disorder". Neuroscience Letters. 333 (1): 41–44. doi:10.1016/S0304-3940(02)00984-9. PMID 12401556. S2CID 19657809.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  9. Christopher A. Rippel, Andrew J. Kobets, Dustin Y. Yoon, Phillip N. Williams, Yin Yao Shugart, Dana D. Bridges, David J. Vandenbergh & Harvey S. Singer (October 2006). "Norepinephrine transporter polymorphisms in Tourette syndrome with and without attention deficit hyperactivity disorder: no evidence for significant association". Psychiatric Genetics. 16 (5): 179–80. doi:10.1097/01.ypg.0000218622.96127.71. PMID 16969268.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  10. J. Samochowiec, F. Rybakowski, P. Czerski, M. Zakrzewska, G. Stepien, J. Pelka-Wysiecka, J. Horodnicki, J. K. Rybakowski & J. Hauser (2001). "Polymorphisms in the dopamine, serotonin, and norepinephrine transporter genes and their relationship to temperamental dimensions measured by the Temperament and Character Inventory in healthy volunteers". Neuropsychobiology. 43 (4): 248–53. doi:10.1159/000054898. PMID 11340364. S2CID 24521817.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Further reading
  • E. G. Jonsson, M. M. Nothen, J. P. Gustavsson, H. Neidt, R. Bunzel, P. Propping & G. C. Sedvall (June 1998). "Polymorphisms in the dopamine, serotonin, and norepinephrine transporter genes and their relationships to monoamine metabolite concentrations in CSF of healthy volunteers". Psychiatry Research. 79 (1): 1–9. doi:10.1016/S0165-1781(98)00027-4. PMID 9676821. S2CID 40355623.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • GeneCards
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.