rs6314

In 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-HT2A 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 452nd amino acid, i.e., it is a missense substitution.[1]

SNP: rs6314
Name(s)His452Tyr, H452Y
GeneHTR2A
Chromosome13
RegionExon 3
External databases
EnsemblHuman SNPView
dbSNP6314
HapMap6314
SNPedia6314
SzGeneMeta-analysis
Overview

As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders[2] and other brain-related variables. A 2003 study looked at memory performance and found that His/His subjects performed better.[3] Another study reported that the SNP had an effect on the memory performance in young adults.[4] This has been replicated by another group.[5]

The His452Tyr variant may influence cell signaling.[6]

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

References
  1. "SNP linked to Gene HTR2A". NCBI.
  2. 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 (March 1996). "Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia". Human Genetics. 97 (5): 614–619. doi:10.1007/BF02281871.CS1 maint: multiple names: authors list (link)
  3. Dominique J-F de Quervain; et al. (November 2003). "A functional genetic variation of the 5-HT2a receptor affects human memory" (PDF). Nature Genetics. 6 (11): 1141–1142. doi:10.1038/nn1146. PMID 14566344.
  4. 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. (May 2005). "Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory". NeuroReport. 16 (8): 839–842. doi:10.1097/00001756-200505310-00012. PMID 15891581.
  5. Michael Wagner, Anna Schuhmacher, Sybille Schwab, Astrid Zobel and Wolfgang Maier (July 2008). "The His452Tyr variant of the gene encoding the 5-HT2A receptor is specifically associated with consolidation of episodic memory in humans". The International Journal of Neuropsychopharmacology. 11 (8): 1–5. doi:10.1017/S146114570800905X. PMID 18611292.CS1 maint: multiple names: authors list (link)
  6. Lisa A. Hazelwood and Elaine Sanders-Bush (November 2004). "His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation". Molecular Pharmacology. 66 (5): 1293–1300. doi:10.1124/mol.66.5.1293. PMID 15496511.


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