Rs5569
{{Infobox single nucleotide polymorphism
| rsid = 5569
| name_1 = A1287G
| name_2 = G1287A
| gene = SLC6A2
| region = Exon 9
| chromosome = 16
}}
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.[https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?chooseRs=het&locusId=6530&mrna=NM_001043.2&ctg=NT_010498.15&prot=NP_001034.1&orien=forward&refresh=refresh dbSNP]
Several research studies have examined the effect of the variant in relation to alcohol dependence,{{Cite journal
| author = Jerzy Samochowiec, Jolanta Kucharska-Mazur, Ryszard Kaminski, Michael Smolka, Hans Rommelschpacher, Catrin Wernicke, Agnieszka Tymicz & Lutz Gerhardt Schmidt
| title = Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence
| journal = Psychiatry Research
| volume = 111
| issue = 2–3
| pages = 229–33
|date=August 2002
| pmid = 12374639
| doi = 10.1016/S0165-1781(02)00145-2
| s2cid = 6493515
| author = San-Yuan Huang, Ru-Band Lu, Kuo-Hsing Ma, Mee-Jen Shy & Wei-Wen Lin
| title = Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups
| journal = Drug and Alcohol Dependence
| volume = 92
| issue = 1–3
| pages = 20–26
|date=January 2008
| doi = 10.1016/j.drugalcdep.2007.06.003
| pmid = 17630229
}}
attention deficit hyperactivity disorder,{{Cite journal
| author = 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
| title = 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
| journal = Neuropsychobiology
| volume = 57
| issue = 3
| pages = 131–138
| year = 2008
| doi = 10.1159/000138916
| pmid = 18552510
| s2cid = 7062834
}}
|author1=Piotr Ksiazek, Kinga Buraczynska |author2=Monika Buraczynska
|name-list-style=amp | title = Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes
| journal = Kidney and Blood Pressure Research
| volume = 29
| issue = 6
| pages = 338–43
| year = 2006
| doi = 10.1159/000097356
| pmid = 17124432
|s2cid=25727749
}}
major depressive disorder,{{Cite journal
| author = 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
| title = Identification of a naturally occurring polymorphism in the promoter region of the norepinephrine transporter and analysis in major depression
| journal = Neuropsychopharmacology
| volume = 26
| issue = 4
| pages = 489–93
|date=April 2002
| doi = 10.1016/S0893-133X(01)00386-4
| pmid = 11927173
| doi-access = free
| author = Kazuyuki Inoue, Kunihiko Itoh, Keizo Yoshida, Hisashi Higuchi, Mitsuhiro Kamata, Hitoshi Takahashi, Tetsuo Shimizu & Toshio Suzuki
| title = No association of the G1287A polymorphism in the norepinephrine transporter gene and susceptibility to major depressive disorder in a Japanese population
| journal = Biological & Pharmaceutical Bulletin
| volume = 30
| issue = 10
| pages = 1996–1998
|date=October 2007
| pmid = 17917281
| doi = 10.1248/bpb.30.1996
| doi-access = free
}}
| author = 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
| title = Norepinephrine transporter gene (NET) variants in patients with panic disorder
| journal = Neuroscience Letters
| volume = 333
| issue = 1
| pages = 41–44
|date=November 2002
| pmid = 12401556
| doi = 10.1016/S0304-3940(02)00984-9
| s2cid = 19657809
}}
Tourette syndrome{{Cite journal
| author = Christopher A. Rippel, Andrew J. Kobets, Dustin Y. Yoon, Phillip N. Williams, Yin Yao Shugart, Dana D. Bridges, David J. Vandenbergh & Harvey S. Singer
| title = Norepinephrine transporter polymorphisms in Tourette syndrome with and without attention deficit hyperactivity disorder: no evidence for significant association
| journal = Psychiatric Genetics
| volume = 16
| issue = 5
| pages = 179–80
|date=October 2006
| doi = 10.1097/01.ypg.0000218622.96127.71
| pmid = 16969268
}}
and personality traits.{{Cite journal
| author = J. Samochowiec, F. Rybakowski, P. Czerski, M. Zakrzewska, G. Stepien, J. Pelka-Wysiecka, J. Horodnicki, J. K. Rybakowski & J. Hauser
| title = 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
| journal = Neuropsychobiology
| volume = 43
| issue = 4
| pages = 248–53
| year = 2001
| pmid = 11340364
| doi = 10.1159/000054898
| s2cid = 24521817
}}
None of the studies have found an association.
References
{{Reflist}}
= Further reading =
- {{Cite journal
| author = E. G. Jonsson, M. M. Nothen, J. P. Gustavsson, H. Neidt, R. Bunzel, P. Propping & G. C. Sedvall
| title = Polymorphisms in the dopamine, serotonin, and norepinephrine transporter genes and their relationships to monoamine metabolite concentrations in CSF of healthy volunteers
| journal = Psychiatry Research
| volume = 79
| issue = 1
| pages = 1–9
|date=June 1998
| pmid = 9676821
| doi = 10.1016/S0165-1781(98)00027-4
| s2cid = 40355623
}}
- [https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A2&search=neurodegenerative%20or%20senile&suff=txt&snp_show_mode=1&snp=224 GeneCards]