Abstract: Objective To determine the association between the polymorphism of angiotensin converting enzyme (ACE) gene
and Alzheimer’s disease (AD). Methods This case-control study involved 201 AD patients and 257 healthy subjects matched
for age and gender as the control group. Polymerase chain reaction amplification and matrix-assisted laser desorption/
ionization time of flight mass spectrometry were used to examine the rs4291, rs4309, and rs4343 of ACE gene, and the
difference in genotypes, allelotype frequencies and haplotype frequencies were analyzed between the two groups. Results No
statistic difference was found in the genotype and allelotype frequencies of rs4291 locus between AD and control groups (P>
0.05). A significant difference was found in the genotype and allelotype frequencies of rs4309 between the two groups with a
significant increase in the C allelotype frequency in AD group (OR=1.917, 95% CI=1.431-2.568, P<0.05). The difference in the
genotype frequency of rs4343 was not significant between the two groups, but the allelotype frequencies differed significantly
with a decreased A allelotype frequency in AD group(OR=0.714, 95% CI=0.532-0.957, P=0.024). Analysis of the linkage
disequilibrium among the loci of rs4291, rs4309 and rs4343 showed a D’all above 0.65 between one another. Haplotype
analysis confirmed the existence of 5 haplotypes, namely ATA, ACA, TCA, TCG and TTG, indicating a negative correlation
between haplotype ATA and AD occurrence (OR=0.558, 95% CI=0.420-0.741, P<0.05) and positive correlations of haplotype
ACA and TCA with AD occurrence (ACA: OR=4.883, 95%CI=2.267-10.518, P<0.05; TCA: OR=2.269, 95% CI=1.083-4.754, P<0.05).
Conclusion The polymorphism of rs4291 may have no relation with the incidence of AD. Polymorphisms of s4309 and rs4343
may be related to AD, and ATA, ACA and TCA haplotypes composed of rs4291/rs4309/rs4343 may be related to AD.