| SNP: rs4680 | |
|---|---|
| Name(s) | Val158Met, Val108/158Met, G1947A |
| Gene | COMT |
| Chromosome | 22 |
| Region | Exon 3 |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | 4680 |
| HapMap | 4680 |
| SNPedia | 4680 |
| AlzGene | Meta-analysis Overview |
| SzGene | Meta-analysis Overview |
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.
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.
Several personality genetics studies have examined the association of the polymorphism with personality traits including extroversion, risk aversion, and novelty seeking.
References
- "SZGene". Archived from the original on 2012-02-15. Retrieved 2011-11-07.
- 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. S2CID 34010109.
- 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. S2CID 26851329.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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. S2CID 28942700.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Murray B. Stein, Margaret Daniele Fallin, Nicholas J. Schork & Joel Gelernter (November 2005). "COMT polymorphisms and anxiety-related personality traits". Neuropsychopharmacology. 30 (11): 2092–2102. doi:10.1038/sj.npp.1300787. PMID 15956988.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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.