Rs1803274

The rs1803274(A) allele encodes a version of the butyrylcholinesterase enyzme 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

[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