rs4680

In genetics, rs4680 (Val158Met) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the COMT gene that codes catechol-O-Methyltransferase. The single nucleotide substitution between G--> A results in an amino acid change from valine to methionine at codon 158.

SNP: rs4680
Name(s)Val158Met, Val108/158Met, G1947A
GeneCOMT
Chromosome22
RegionExon 3
External databases
EnsemblHuman SNPView
dbSNP4680
HapMap4680
SNPedia4680
AlzGeneMeta-analysis
Overview
SzGeneMeta-analysis
Overview

The A or Met allele is associated with lower enzymatic activity (due to thermoinstability), and with exploratory behaviour.

The polymorphism has been much studied in schizophrenia research but as of November 2011 meta-analysis in the SzGene database shows no or very little effect.[1]

Several personality genetics studies have examined the association of the polymorphism with personality traits including extroversion, risk aversion, and novelty seeking.[2][3][4][5][6]

References
  1. http://www.szgene.org/meta.asp?geneID=420&polyID=2954
  2. Martin Reuter & Juergen Hennig (July 2005). "Association of the functional catechol-O-methyltransferase VAL158MET polymorphism with the personality trait of extraversion". NeuroReport. 16 (10): 1135–1138. doi:10.1097/00001756-200507130-00020. PMID 15973162.
  3. Se Joo Kim, Young Shin Kim, Shin Young Kim, Hong Shick Lee & Chan-Hyung Kim (June 2006). "An association study of catechol-O-methyltransferase and monoamine oxidase A polymorphisms and personality traits in Koreans". Neuroscience Letters. 401 (1–2): 154–158. doi:10.1016/j.neulet.2006.03.006. PMID 16584839.CS1 maint: multiple names: authors list (link)
  4. Ryota Hashimoto, Hiroko Noguchi, Hiroaki Hori, Kazutaka Ohi, Yuka Yasuda, Masatoshi Takeda & Hiroshi Kunugi (November 2007). "A possible association between the Val158Met polymorphism of the catechol-O-methyl transferase gene and the personality trait of harm avoidance in Japanese healthy subjects". Neuroscience Letters. 428 (1): 17–20. doi:10.1016/j.neulet.2007.09.036. PMID 17945417.CS1 maint: multiple names: authors list (link)
  5. Murray B. Stein, Margaret Daniele Fallin, Nicholas J. Schork & Joel Gelernter (November 2005). "COMT polymorphisms and anxiety-related personality traits". Neuropsychopharmacology. 30 (11): 2092–2092. doi:10.1038/sj.npp.1300787. PMID 15956988.CS1 maint: multiple names: authors list (link)
  6. Amy L. Silberschmidt & Scott Sponheim (March 2008). "Personality in relation to genetic liability for schizophrenia and bipolar disorder: Differential associations with the COMT Val108/158Met polymorphism". Schizophrenia Research. 100 (1): 316–324. doi:10.1016/j.schres.2007.12.467. PMC 2682527. PMID 18201871.
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