Genetic association of two chromosome 14 genes (presenilin 1 and alpha 1-antichymotrypsin) with Alzheimer's disease.
We have investigated the association of two candidate genes on chromosome 14, presenilin 1 (PS1) and alpha1-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 than 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.
Wang
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Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA.
DeKosky
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Wisniewski
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Aston
Kamboh
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MI
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000209:etiology / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004198:Disease Susceptibility; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D053764:Presenilin-1; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D000514:alpha 1-Antichymotrypsin