Home Details
| Official Symbol of Gene | Val158Met |
| Species | Homo sapiens |
| Entrez Gene ID | 1312 |
| Official Full Name | catechol-O-methyltransferase |
| Also known as | HEL-S-98n |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000093010 MIM:116790; AllianceGenome:HGNC:2228 |
| Map Location | 22q11.21 |
| Variation Type | polymorphism |
| refSNP ID | rs4680 Val158Met (Val/Val, Val/Met,and Met/Met) |
| Detected Sample | saliva |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 108 MS patients( MS with pain (N = 58),MS without pain (N = 50))/ 108 healthy controls |
| Pubmed ID | 24290452 |
| Year | 2013 |
| Title | Catechol-O-methyltransferase Val158Met polymorphism (rs4680) is associated with pain in multiple sclerosis |
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | This study suggests that the Val158Met polymorphism is associated with the presence of pain in MS, because the presence of the Met/Met genotype was more prevalent in those patients with pain. |
| Mechanism/Pathway | The catechol-Omethyltransferase (COMT) gene is one of the several potential genetic determinants of nociceptive modulation.Genetic polymorphism due to a G/A substitution at codon 158 of the COMT gene, leading to a Val to Met substitution, results in gene activity differences.The presence of a Met allele results in low enzymatic activity. |

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