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Butyrylcholinesterase : Atypic and K-VariantsBoth common variants of this gene are associated with diminished enzymatic activity of the gene product, and have long been associated with increased sensitivity to muscle relaxants used in anaesthesia. Recently, interactions of the K variant with the Apolipoprotein E4 isoform in the causation of Alzheimer's disease have been discovered.References 1. Bartels CF et al. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites. Am J Hum Genet 1992 May;50(5):1086-103 2. Wiebusch H et al. Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease. Hum Genet 1999 Feb;104(2):158-63 3. Tilley L et al. Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease. Eur J Hum Genet 1999 Sep;7(6):659-63 4. Lehmann DJ et al. Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease. Hum Genet 2000 Apr;106(4):447-52 |