The APP A673T frequency differs between Nordic countries

NEUROBIOLOGY OF AGING

卷:36

Article

Mengel-From, Jonas^1,2,3  Jeune, Bernard^1,2  Pentti, Tienari^4,5  McGue, Matt^1,2,6  Christensen, Kaare^1,2,3,7  Christiansen, Lene^1,2 

[1] Univ Southern Denmark, Danish Aging Res Ctr, Odense, Denmark

[2] Univ Southern Denmark, Dept Publ Hlth, Epidemiol Biostat & Biodemog Unit, Danish Twin Registry, Odense, Denmark

[3] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark

[4] Univ Helsinki, Res Program Unit, Mol Neurol, Biomedicum Helsinki, Helsinki, Finland

[5] Univ Helsinki, Cent Hosp, Dept Neurol, Helsinki, Finland

[6] Univ Minnesota, Dept Psychol, Minneapolis, MN 55455 USA

[7] Odense Univ Hosp, Dept Clin Biochem & Pharmacol, DK-5000 Odense, Denmark

关键词: Alzheimers;    Aging;    Dementia;    Amyloid beta;    Cognition;   

DOI  :  10.1016/j.neurobiolaging.2015.07.011

来源: Elsevier

【 摘 要 】

A coding gene variant A673T (rs63750847) in the APP gene has recently been recognized as a protective variant of late-onset Alzheimer's Disease in a large Icelandic population and has been observed recurrently in populations from Nordic countries. The variant also was related to longevity in the Icelandic population. However, because of the extreme rarity of A673T in non-Nordic populations, the association with Alzheimer's disease has not yet been formally replicated. Because the variant has not been reported among the Danes, we aimed to study its frequency among healthy middle-age twins and oldest-old singletons and explore the possible effects on longevity and cognitive abilities. Surprisingly, only 1 of 3487 unrelated Danes carried the A673T variant, (0.014% [ 95% CI 0.000-0.080]), which was significantly lower than in the other Nordic countries averaging to 0.43% (95% CI 0.40-0.46). In conclusion, the A673T variant is rarer in Danes than other Nordic countries, thus precluding assessment of association with longevity or cognitive functioning. (C) 2015 Elsevier Inc. All rights reserved.

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