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The gene for the amyloid-beta (Aβ) precursor protein (APP) has been associated with autosomal dominant, early-onset Alzheimer disease (AD) in a small percentage of patients. Currently about 25 out of 30 coding mutations identified in the APP gene have been described as pathogenic. Now, researchers report identifying the first APP mutation to be associated with a reduced risk for AD, using whole-genome sequence data from nearly 1800 Icelanders.
The single nucleotide polymorphism (SNP) rs63750847-A in the APP gene was significantly more common in the control group who had not developed AD by age 85 than in those who had developed the disease (0.62% vs. 0.13%; odds ratio, 5.29). The SNP leads to a substitution of threonine for alanine at positi…