PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.
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.
Dermaut
Bart
B
Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology (VIB8), University of Antwerp, Antwerpen, Belgium.
Croes
Esther A
EA
Rademakers
Rosa
R
Van den Broeck
Marleen
M
Cruts
Marc
M
Hofman
Albert
A
van Duijn
Cornelia M
CM
Van Broeckhoven
Christine
C
D000328:Adult; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D000682:Amyloid / Q000235:genetics*; D016009:Chi-Square Distribution; D016001:Confidence Intervals; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D012307:Risk Factors
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors