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APP A673T的频率在北欧国家之间存在差异。

The APP A673T frequency differs between Nordic countries.

作者信息

Mengel-From Jonas, Jeune Bernard, Pentti Tienari, McGue Matt, Christensen Kaare, Christiansen Lene

机构信息

The Danish Aging Research Center and The Danish Twin Registry, Epidemiology, Biostatistics and Biodemography Unit, Department of Public Health, University of Southern Denmark, Odense, Denmark; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

The Danish Aging Research Center and The Danish Twin Registry, Epidemiology, Biostatistics and Biodemography Unit, Department of Public Health, University of Southern Denmark, Odense, Denmark.

出版信息

Neurobiol Aging. 2015 Oct;36(10):2909.e1-4. doi: 10.1016/j.neurobiolaging.2015.07.011. Epub 2015 Jul 11.

Abstract

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.

摘要

APP基因中的一个编码基因突变体A673T(rs63750847)最近在冰岛的一大群人中被确认为晚发性阿尔茨海默病的一个保护性变体,并且在北欧国家的人群中反复被观察到。该变体在冰岛人群中也与长寿有关。然而,由于A673T在非北欧人群中极其罕见,其与阿尔茨海默病的关联尚未得到正式验证。由于丹麦人中尚未报告该变体,我们旨在研究其在健康中年双胞胎和高龄单身人群中的频率,并探讨其对长寿和认知能力的可能影响。令人惊讶的是,在3487名无亲属关系的丹麦人中,只有1人携带A673T变体(0.014% [95%置信区间0.000 - 0.080]),这显著低于其他北欧国家的平均水平0.43%(95%置信区间0.40 - 0.46)。总之,A673T变体在丹麦人中比其他北欧国家更罕见,因此无法评估其与长寿或认知功能的关联。

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本文引用的文献

1
Health and function assessments in two adjacent Danish birth cohorts of centenarians: Impact of design and methodology.
Eur J Ageing. 2015 Sep 8;13(1):15-23. doi: 10.1007/s10433-015-0354-z. eCollection 2016 Mar.
2
Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis.
JAMA. 2015 May 19;313(19):1924-38. doi: 10.1001/jama.2015.4668.
3
The fine-scale genetic structure of the British population.
Nature. 2015 Mar 19;519(7543):309-314. doi: 10.1038/nature14230.
5
Rarity of the Alzheimer disease-protective APP A673T variant in the United States.
JAMA Neurol. 2015 Feb;72(2):209-16. doi: 10.1001/jamaneurol.2014.2157.
6
Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.
J Biol Chem. 2014 Nov 7;289(45):30990-1000. doi: 10.1074/jbc.M114.589069. Epub 2014 Sep 24.
7
Physical and mental decline and yet rather happy? A study of Danes aged 45 and older.
Aging Ment Health. 2015;19(5):400-8. doi: 10.1080/13607863.2014.944089. Epub 2014 Aug 13.
8
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
Hum Mol Genet. 2014 Aug 15;23(16):4420-32. doi: 10.1093/hmg/ddu139. Epub 2014 Mar 31.
9
Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease.
Neurobiol Aging. 2014 Jul;35(7):1779.e15-6. doi: 10.1016/j.neurobiolaging.2014.01.020. Epub 2014 Jan 23.
10
Absence of A673T variant in APP gene indicates an alternative protective mechanism contributing to longevity in Chinese individuals.
Neurobiol Aging. 2014 Apr;35(4):935.e11-2. doi: 10.1016/j.neurobiolaging.2013.09.023. Epub 2013 Oct 12.

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