PEN2 is not a genetic risk factor for Alzheimer's disease in a large family sample.
PEN2 is a reasonable Alzheimer's disease (AD) candidate gene because it is a necessary component of the gamma-secretase complex that generates beta-amyloid peptide. Moreover, its gene (PEN2) maps to a highly significant linkage region on chromosome 19q13. Four common polymorphisms in PEN2 were tested for genetic association with AD in a large and carefully ascertained AD family sample (789 subjects from 202 nuclear families) using single-locus and haplotype-based analyses. These results do not suggest PEN2 to be a major AD risk factor.
Bertram
L
L
Genetics and Aging Research Unit, Center for Aging, Genetics, and Neurodegeneration, Department of Neurology, Charlestown, MA 02129, USA.
Menon
R
R
Mullin
K
K
Parkinson
M
M
Bradley
M L
ML
Blacker
D
D
Tanzi
R E
RE
D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases; D001057:Apolipoproteins E / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D012307:Risk Factors
D001057:Apolipoproteins E; D008565:Membrane Proteins; C469349:PSENEN protein, human; D053829:Amyloid Precursor Protein Secretases