rs1803274

minus

Geno	Mag	Summary
(A;A)		possible increased Alzheimer's risk
(A;G)		possible increased Alzheimer's risk
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

3

Position

165773492

Gene

BCHE

is a	snp
is	mentioned by
dbSNP	rs1803274
dbSNP (classic)	rs1803274
ClinGen	rs1803274
ebi	rs1803274
HLI	rs1803274
Exac	rs1803274
Gnomad	rs1803274
Varsome	rs1803274
LitVar	rs1803274
Map	rs1803274
PheGenI	rs1803274
Biobank	rs1803274
1000 genomes	rs1803274
hgdp	rs1803274
ensembl	rs1803274
geneview	rs1803274
scholar	rs1803274
google	rs1803274
pharmgkb	rs1803274
gwascentral	rs1803274
openSNP	rs1803274
23andMe	rs1803274
SNPshot	rs1803274
SNPdbe	rs1803274
MSV3d	rs1803274
GWAS Ctlg	rs1803274

GMAF

0.1607

Max Magnitude

0

?

(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 1349196 ]

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 10699053 ] 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

OMIM	177400
Desc
Variant	0005
Related	also

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

GWAS snp
PMID	[PMID 21943158 ]
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 21862451 ]
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	Probable-non-pathogenic
Disease	Butyrylcholinesterase activity Deficiency of butyrylcholine esterase
Variation	info
Gene	BCHE
CLNDBN	Butyrylcholinesterase activity Deficiency of butyrylcholine esterase
Reversed	1
HGVS	NC_000003.11:g.165491280C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014120.28, RCV000309118.1,

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

[PMID 24312228 ] Butyrylcholinesterase genetic variants: association with cocaine dependence and related phenotypes

[PMID 30410011 ] K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt.

[PMID 30914707 ] Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease.