Rs4680
Genetic variant
From Wikipedia, the free encyclopedia
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 |
| 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 |
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]