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Genetic association of two chromosome 14 genes (presenilin 1 and α 1 ‐Antichymotrypsin) with Alzheimer's disease
Author(s) -
Wang Xiaoyan,
DeKosky Steven T.,
Wisniewski Stephen,
Aston Christopher E.,
Kamboh M. Ilyas
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440316
Subject(s) - haplotype , allele , presenilin , genetics , genotype , alzheimer's disease , disease , biology , genetic association , gene , degenerative disease , allele frequency , chromosome , chromosome 17 (human) , single nucleotide polymorphism , medicine
We have investigated the association of two candidate genes on chromosome 14, presenilin 1 (PS1) and α 1 ‐antichymotrypsin (ACT), with the risk of sporadic Alzheimer's disease (AD) by using 427 AD cases and 250 controls. The frequency of the ACT * A allele was significantly higher in cases than controls (0.550 vs 0.466). The stratification of the ACT data by PS1 genotypes showed that the risk associated with the ACT * A allele was confined to PS1 * 1 carriers only. The two‐site haplotype data for PS1 and ACT showed that the A1 haplotype, carrying the ACT * A and PS1 * 1 alleles, was more frequent in cases then controls (0.310 vs 0.251), whereas the frequency of the T2 haplotype, carrying the ACT * T and PS1 * 2 alleles, was lower in cases than controls (0.177 vs 0.237). These data indicate a possible synergistic effect of these two loci on the risk of AD.