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Apolipoprotein E and Intronic Polymorphism of Presenilin 1 and Alpha-1-Antichymotrypsin in Alzheimer’s Disease and Vascular Dementia

Apolipoprotein E (ApoE) genotypes, presenilin 1 (PS-1) and α1-antichymotrypsin (ACT) polymorphism and the association of the genotypes were examined in patients with Alzheimer’s disease (AD, n = 121) or vascular dementia (VD, n = 68) in comparison with elderly controls (n = 125). The frequency of the ApoE ε4 allele was significantly increased both in late-onset AD (0.35) and in VD (0.17); the frequency of ApoE ε2 was significantly reduced in AD, but it was similar in VD and controls. The presence of the allele 1 of PS-1 intronic polymorphism was not associated with AD or VD and was not influenced by the ApoE genotypes. Also, the frequency of allele A of the intronic polymorphism of ACT was similar in AD, VD and controls and it was not altered by ApoE or PS-1 genotypes. The results confirm the association between ApoE ε4 and AD and indicate an increase in ApoE ε4 in Vd, too. A potential protective role of ApoE ε2 is also suggested for late-onset AD but not for VD. No association was shown between ACT allele A and PS-1 allele 1 in AD or VD.