Annals of neurology
Author:
Keywords:
creutzfeldt-jakob-disease, human prion diseases, protein gene, presenilin-1, polymorphism, expression, genotype, Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, CREUTZFELDT-JAKOB-DISEASE, HUMAN PRION DISEASES, PROTEIN GENE, PRESENILIN-1, POLYMORPHISM, EXPRESSION, GENOTYPE, Adult, Aged, Alleles, Alzheimer Disease, Amyloid, Chi-Square Distribution, Confidence Intervals, Female, Genotype, Homozygote, Humans, Male, Middle Aged, Odds Ratio, Prion Proteins, Prions, Protein Precursors, Risk Factors, 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery, 3202 Clinical sciences, 3209 Neurosciences
Abstract:
We analyzed the PRNP M129V polymorphism in a Dutch population-based early-onset Alzheimer's disease sample. We observed a significant association between early-onset Alzheimer's disease and homozygosity of M129V (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1-3.3; P = 0.02) with the highest risk for V homozygotes (OR, 3.2; 95% CI, 1.4-7.1; p < / 0.01). In patients with a positive family history, these risks increased to 2.6 (95% CI, 1.3-5.3; p < / 0.01) and 3.5 (95% CI, 1.3-9.3; p = 0.01), respectively.