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rs2066702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common
(C;T) None
(T;T) None
ReferenceGRCh38 38.1/142
Chromosome4
Position99307860
GeneADH1B
is asnp
is mentioned by
dbSNPrs2066702
ebirs2066702
HLIrs2066702
Exacrs2066702
Varsomers2066702
Maprs2066702
PheGenIrs2066702
hapmaprs2066702
1000 genomesrs2066702
hgdprs2066702
ensemblrs2066702
gopubmedrs2066702
geneviewrs2066702
scholarrs2066702
googlers2066702
pharmgkbrs2066702
gwascentralrs2066702
openSNPrs2066702
23andMers2066702
23andMe allrs2066702
SNP Nexus

SNPshotrs2066702
SNPdbers2066702
MSV3drs2066702
GWAS Ctlgrs2066702
GMAF0.04959
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM103720
DescALCOHOL DEHYDROGENASE, BETA SUBUNIT, INDIANAPOLIS
Variant0002
Relatedalso

This paper found significant association with rs2066702, the SNP that defines ADH1B*3, in African American families. Association was strongest with the ICD-10 definitions of alcoholism, with P=0.046 for PDTsum and 0.029 for PDTaverage; it was also significant for DSM-IV for PDTaverage (P=0.039). The high-risk allele was the C that encodes ADH1B*1, and the low-risk allele encodes ADH1B*3.

A review of the (at times conflicting) findings regarding ADH1B genotypes and maternal and fetal alcohol syndromes is available.[1]

In some African American and Native American populations, the ADH1B*3 allele (Arg369Cys in exon 9) is correlated with protection against alcoholism. [PMID 17718395OA-icon.png] [PMID 17718396OA-icon.png] [PMID 16571603]



[PMID 22675424OA-icon.png] ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case–Control Studies


ClinVar
Risk rs2066702(T;T)
Alt rs2066702(T;T)
Reference rs2066702(C;C)
Significance Other
Disease Alcohol dependence
Variation info
Gene ADH1B
CLNDBN Alcohol dependence
Reversed 1
HGVS NC_000004.11:g.100229017G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019815.2,



[PMID 12050823OA-icon.png] A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.


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


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


[PMID 21497796OA-icon.png] Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.


[PMID 21635275OA-icon.png] Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.


GET Evidence
ADH1B-R370C
aa_change Arg370Cys
aa_change_short R370C
impact protective
qualified_impact Insufficiently evaluated protective
overall_frequency 0.0633947
summary



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