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Apolipoprotein E and α 1 ‐antichymotrypsin polymorphism in Alzheimer's disease
Author(s) -
Nacmias Benedetta,
Tedde Andrea,
Latorraca Stefania,
Piacentini Silvia,
Bracco Laura,
Amaducci Luigi,
Sorbi Sandro,
Guarnieri Bianca Maria,
Petruzzi Concetta,
Ortenzi Luigi
Publication year - 1996
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.410400420
Subject(s) - apolipoprotein e , genotype , allele , alzheimer's disease , genetics , polymorphism (computer science) , disease , allele frequency , medicine , biology , gene
A recent observation has shown that a common polymorphism in the α 1 ‐antichymotrypsin (ACT) gene modifies the apolipoprotein E (ApoE) ε4‐associated Alzheimer's disease (AD) risk identifing the combination of the ACT/AA and ApoE ε4/ε4 genotypes as a potential susceptibility marker for AD. We analyzed the segregation of the ApoE and ACT polymorphism in sporadic and familial AD patients. In none of the sporadic AD patients did we find the combination of the ACT/AA and ApoE ε4/ε4 genotypes. The frequency of ApoE ε4/ε4 homozygosity in the AD sample resulted highest for the ACT/TT genotype (17.6%). Our data fail to confirm any additional association with AD beyond the ApoE ε4 allele with any ACT genotype, suggesting that ACT does not represent an additional risk factor for AD.