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

rs1803274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) possible increased Alzheimer's risk
(A;G) possible increased Alzheimer's risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome3
Position165773492
GeneBCHE
is asnp
is mentioned by
dbSNPrs1803274
ebirs1803274
HLIrs1803274
Exacrs1803274
Varsomers1803274
Maprs1803274
PheGenIrs1803274
hapmaprs1803274
1000 genomesrs1803274
hgdprs1803274
ensemblrs1803274
gopubmedrs1803274
geneviewrs1803274
scholarrs1803274
googlers1803274
pharmgkbrs1803274
gwascentralrs1803274
openSNPrs1803274
23andMers1803274
23andMe allrs1803274
SNP Nexus

SNPshotrs1803274
SNPdbers1803274
MSV3drs1803274
GWAS Ctlgrs1803274
GMAF0.1607
Max Magnitude0
? (A;A) (A;G) (G;G) 28
The rs1803274(A) allele encodes a version of the butyrylcholinesterase enzyme known as the K variant; it may also be known as CHE*539T or BCHE*539T. The allele produces a 30% reduction in serum butyrylcholinesterase activity, and it is often co-inherited with the SNP encoding the so-called "atypical" butyrylcholinesterase, rs1799807.[PMID 1349196OA-icon.png]

Although not replicated by other studies, some studies have found, at least in certain populations, a possible association between this SNP and risk for Alzheimer's disease (independent of ApoE4 status):

  • [PMID 10190327] reports ~2x increased Alzheimer's risk for carriers of one or more rs1803274(A) alleles, based on a study of 135 Canadian patients
  • [PMID 10699053OA-icon.png] reports ~3.5x increased Alzheimer's risk for carriers of one or more rs1803274(A) alleles, based on a study of 175 patients from Northern Ireland
  • [PMID 11849755]: reports an association this SNP and Alzheimer-related neuropathology, but only for K variant homozygotes, and was limited to at ages > or = 70 years but not 50-69 years, based on 521 cases.

Related studies include:

  • [PMID 17701416] reports that rs1803274(A;A) homozygotes (i.e. K variant homozygotes), but not heterozygotes, are at higher risk factor for developing neurofibrillary tangles, at least in young individuals


[PMID 18780301] Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine

OMIM177400
Desc
Variant0005
Relatedalso


[PMID 21473860] Variation of the Butyrylcholinesterase (BChE) and Acetylcholinesterase (AChE) genes in coronary artery disease

GWAS snp
PMID [PMID 21943158OA-icon.png]
Trait
Title Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
Risk Allele T
P-val 6E-92
Odds Ratio 0.3650 [0.33-0.40] units/l decrease
GWAS snp
PMID [PMID 21862451OA-icon.png]
Trait
Title GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
Risk Allele T
P-val 0
Odds Ratio 0.7100 [0.67-0.75] SD decrease


ClinVar
Risk rs1803274(A;A)
Alt rs1803274(A;A)
Reference rs1803274(G;G)
Significance Non-pathogenic
Disease Butyrylcholinesterase activity
Variation info
Gene BCHE
CLNDBN Butyrylcholinesterase activity
Reversed 1
HGVS NC_000003.11:g.165491280C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014120.28,



[PMID 20056567OA-icon.png] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.


GET Evidence
BCHE-A567T
aa_change Ala567Thr
aa_change_short A567T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.198252
summary



[PMID 24312228OA-icon.png] Butyrylcholinesterase genetic variants: association with cocaine dependence and related phenotypes