rs1355534

This is a intron variant variant in the BCHE gene.

▶

Research that mentions this SNP (1)

▶
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
AssociationN=725Renato Scacchi et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This case-control study examined four SNPs in cholinergic system genes (AChE rs2571598, BChE rs1355534, BChE rs1803274, and ChAT rs2177369) in 471 late-onset Alzheimer's disease (LOAD) patients and 254 controls from Northern Italy. Only ChAT rs2177369 showed a significant association with AD onset, with the G/G genotype conferring increased risk (OR = 1.56; 95% CI 1.10-2.22; P = 0.01). Among treated patients (n=171), no consistent associations between SNP genotypes and response to Donepezil or Rivastigmine were observed, though the AChE rs2571598 A/A genotype showed a trend toward better response to Rivastigmine.

Traits studied:Alzheimer's diseaseCognitive decline in response to Donepezil treatmentCognitive decline in response to Rivastigmine treatmentLate-onset Alzheimer's disease (LOAD)
PubMedDOIMetascience Observatory

About BCHE

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

View all BCHE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…