J. Tyrrell et al., Presenilin 1 and alpha-1-antichymotrypsin polymorphisms in Down syndrome: No effect on the presence of dementia, AM J MED G, 88(6), 1999, pp. 616-620
As people with Down syndrome (DS) age, they are at greater risk for Alzheim
er disease (AD) than the general population. It has been suggested that pol
ymorphisms at the genes for presenilin-1 (PS-1) and alpha-1-antichymotrypsi
n (ACT) confer an increased risk for AD in the general population, and ther
efore potentially to AD in people with DS. We obtained DNA from 231 individ
uals with DS and 233 population controls. People with DS were evaluated for
dementia, Allele frequencies at PS-1 and ACT polymorphisms in people with
DS were compared to those in age-matched controls. There were no frequency
differences between the control sample and DS sample for PS-1 or ACT allele
s or genotypes, Similarly, there were no differences in allele frequencies
between the demented and age-matched non-demented DS samples. However a hig
her frequency of PS-1 heterozygotes in the demented DS group was noted. We
conclude that unlike the general population, neither PS-1 nor ACT polymorph
isms appear to have a similar detrimental effect on dementia in DS. Am. J.
Med. Genet. (Neuropsychiatr. Genet.) 88:616-620, 1999. (C) 1999 Wiley-Liss,
Inc.