Rs6314

Infobox Single nucleotide polymorphism
rsid = 6314
name_1 = His452Tyr
name_2 = H452Y
gene = HTR2A
region = Exon 3
chromosome = 13
szgene_geneid = 293
szgene_polyid = 1867In genetics, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism (SNP), in the "HTR2A" gene that codes for the 5-HT_2A receptor.The SNP is located in exon 3 of the gene and the change between C and T results in a change between histidine (His) and tyrosine (Tyr) at the 452th amino acid, i.e., it is a missense substitution. [Cite web
url = http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=3356
title = SNP linked to Gene HTR2A
publisher = NCBI]

As 5-HT_2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders [Cite journal
author = Jeanette Erdmann, Daphne Shimron-Abarbanell, Marcella Rietschel, Margot Albus, Wolfgang Maier, Judith Körner, Brigitta Bondy, Kevin Chen, Jean C. Shih, Michael Knapp, Peter Propping and Markus M. Nöthen
title = Systematic screening for mutations in the human serotonin-2A (5-HT_2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia
journal = Human Genetics
volume = 97
issue = 5
month = March
year = 1996
doi = 10.1007/BF02281871
pages = 614–619] and other brain-related variables. A 2003 study looked at memory performance and found that His/His subjects performed better. [Cite journal
author = Dominique J-F de Quervain and others
title = A functional genetic variation of the 5-HT2a receptor affects human memory
journal = Nature Genetics
volume = 6
issue = 11
month = november
year = 2003
url = http://www.memory.ulink.icu.uzh.ch/Nat%20Neurosci%202003.pdf
pages = 1141–1142] Another study reported that the SNP had an effect on the memory performance in young adults. [Cite journal
author = Papassotiropoulos, Andreas; Henke, Katharina; Aerni, Amanda; Coluccia, Daniel; Garcia, Esmeralda; Wollmer, Marc A.; Huynh, Kim-Dung; Monsch, Andreas U.; Stahelin, Hannes B.; Hock, Christoph; Nitsch, Roger M.; de Quervain, Dominique J.-F.
title = Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory
journal = NeuroReport
year = 2005
month = May
volume = 16
issue = 8
pages = 839–842
pmid = 15891581] This has been replicated by another group. [Cite journal
author = Michael Wagner, Anna Schuhmacher, Sybille Schwab, Astrid Zobel and Wolfgang Maier
title = The His452Tyr variant of the gene encoding the 5-HT2A receptor is specifically associated with consolidation of episodic memory in humans
journal = The International Journal of Neuropsychopharmacology
pages = 1–5
year = 2008
month = July
doi = 10.1017/S146114570800905X
pmid = 18611292]

The His452Tyr variant may influence cell signaling. [Cite journal
author = Lisa A. Hazelwood and Elaine Sanders-Bush
title = His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation
journal = Molecular Pharmacology
year = 2004
month = November
volume = 66
issue = 5
pages = 1293–1300
pmid = 15496511
url = http://molpharm.aspetjournals.org/cgi/content/full/66/5/1293]

rs6311, rs6313 and rs7997012 are other investigated SNPs in the "HTR2A" gene.

References