Annotation Detail
Information
- Associated Genes
- ADH1B
- Associated Variants
-
COMT p.Asn39Asp (p.N39D)
(
ENST00000361682.11,
ENST00000403184.5,
ENST00000403710.5,
ENST00000406520.7,
ENST00000407537.5,
ENST00000428707.2,
ENST00000449653.5,
ENST00000676678.1,
ENST00000678255.1,
ENST00000678769.1,
ENST00000678868.1 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
OPRM1 p.Asn133Asp (p.N133D) ( ENST00000229768.9, ENST00000330432.12, ENST00000337049.8, ENST00000360422.8, ENST00000414028.6, ENST00000419506.6, ENST00000428397.6, ENST00000434900.6, ENST00000435918.6, ENST00000452687.6, ENST00000518759.5, ENST00000520708.5, ENST00000524163.5 )
COMT p.Asn39Asp (p.N39D) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
OPRM1 p.Asn133Asp (p.N133D) ( ENST00000229768.9, ENST00000330432.12, ENST00000337049.8, ENST00000360422.8, ENST00000414028.6, ENST00000419506.6, ENST00000428397.6, ENST00000434900.6, ENST00000435918.6, ENST00000452687.6, ENST00000518759.5, ENST00000520708.5, ENST00000524163.5 ) - Associated Disease
- Flushing
- Source Database
- DisGeNET
- Description
- Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehydrogenase 1B and aldehyde dehydrogenase 2 variants that cause the aversive flushing reaction; catechol-O-methyltransferase (COMT) Val158Met leading to differences in three aspects of neurobiology: executive cognitive function, stress/anxiety response, and opioid function; opioid receptor micro1 (OPRM1) Asn40Asp, which may serve as a gatekeeper molecule in the action of naltrexone, a drug used in alcoholism treatment; and HTTLPR, which alters serotonin transporter function and appears to affect stress response and anxiety/dysphoria, which are factors relevant to initial vulnerability, the process of addiction, and relapse.
- Pubmed
- 15584875
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0109012821449303
- Year of publication
- 2004
Drugs