Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Aged
-
Alzheimer Disease / epidemiology
-
Alzheimer Disease / genetics*
-
Amyloid Precursor Protein Secretases
-
Apolipoproteins E / genetics
-
Chromosomes, Human, Pair 19 / genetics
-
Cohort Studies
-
Female
-
Gene Frequency
-
Genetic Predisposition to Disease
-
Genotype
-
Humans
-
Linkage Disequilibrium
-
Male
-
Membrane Proteins / genetics*
-
Membrane Proteins / physiology
-
Risk Factors
Substances
-
Apolipoproteins E
-
Membrane Proteins
-
PSENEN protein, human
-
Amyloid Precursor Protein Secretases