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  • Title: Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits at young ages.
    Author: Ghebremedhin E, Thal DR, Schultz C, Braak H, Deller T.
    Journal: Acta Neuropathol; 2007 Oct; 114(4):359-63. PubMed ID: 17701416.
    Abstract:
    The presence of the K variant of the butyrylcholinesterase gene (BCHE-K) has been associated with the severity of Alzheimer's disease (AD)-related neurofibrillary tangles (NFT) and amyloid beta-protein (Abeta). To examine the impact of BCHE-K on the development of initial NFT- and Abeta pathologies in young individuals below the age of 45 years a total of 124 cases (110 cases with NFT-only pathology, 14 cases with Abeta-only pathology) and 104 matched controls were genotyped for BCHE-K. Homozygosity for BCHE-K was highly overrepresented among NFT-only group (8.2%) compared with controls (1%, P = 0.02) or the Abeta-only group (0%). The prevalence of the K allele, however, was comparable among groups. These findings suggest that homozygosity, but not heterozygosity, for BCHE-K is a potential risk factor for the development of NFT pathology in young individuals implicating BCHE-K in the pathogenesis of early AD.
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