Have questions? Visit https://www.reddit.com/r/SNPedia

rs1693482

From SNPedia

Orientationplus
Stabilizedplus
Make rs1693482(C;C)
Make rs1693482(C;T)
Make rs1693482(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position99342808
GeneADH1C
is asnp
is mentioned by
dbSNPrs1693482
ebirs1693482
HLIrs1693482
Exacrs1693482
Varsomers1693482
Maprs1693482
PheGenIrs1693482
hapmaprs1693482
1000 genomesrs1693482
hgdprs1693482
ensemblrs1693482
gopubmedrs1693482
geneviewrs1693482
scholarrs1693482
googlers1693482
pharmgkbrs1693482
gwascentralrs1693482
openSNPrs1693482
23andMers1693482
23andMe allrs1693482
SNP Nexus

SNPshotrs1693482
SNPdbers1693482
MSV3drs1693482
GWAS Ctlgrs1693482
GMAF0.2397
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs1693482, also known as Arg272Gln, is a SNP in the alcohol dehydrogenase 1C ADH1C gene. The rs1693482(C) allele is the more common, encoding the amino acid arginine (Arg); the rarer rs1693482(T) allele encodes the variant glutamine (Gln).

A study of 575 Irish alcoholics observed an association between rs1693482 and risk for alcohol dependence.[PMID 18331377OA-icon.png]

On it's own, this SNP is also said to explain 8.4% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards.[PMID 20101753]

More significantly (in a statistical sense), this study concluded that combinations of this SNP and others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211 genoset.

Note that the effects of alcohol are higher in individuals who break down (basically, detoxify) ethanol more slowly.

OMIM103730
DescALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH1C
Variant
Relatedalso


[PMID 19861527] Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population

OMIM103730
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1693482(T;T)
Alt rs1693482(T;T)
Reference rs1693482(C;C)
Significance Other
Disease Alcohol dependence
Variation info
Gene ADH1C
CLNDBN Alcohol dependence
Reversed 0
HGVS NC_000004.11:g.100263965C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019810.2,



[PMID 16018848] Influence of alcohol dehydrogenase 1C polymorphism on the alcohol-cardiovascular disease association (from the Framingham Offspring Study).


[PMID 16685648OA-icon.png] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.


[PMID 17185388OA-icon.png] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.


[PMID 17273965OA-icon.png] Evidence of positive selection on a class I ADH locus.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18996923OA-icon.png] Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.


[PMID 19193628OA-icon.png] ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19526455OA-icon.png] ADH1A variation predisposes to personality traits and substance dependence.


[PMID 20700531OA-icon.png] The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.


[PMID 21303386] Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.


GET Evidence
ADH1C-R271Q
aa_change Arg271Gln
aa_change_short R271Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.299126
summary



[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.


[PMID 23404349] Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.