Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease. / Nordestgaard, Liv Tybjærg; Tybjærg-Hansen, Anne; Nordestgaard, Børge G; Frikke-Schmidt, Ruth.

In: Alzheimer's & Dementia, Vol. 11, No. 12, 12.2015, p. 1430-8.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Nordestgaard, LT, Tybjærg-Hansen, A, Nordestgaard, BG & Frikke-Schmidt, R 2015, 'Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease', Alzheimer's & Dementia, vol. 11, no. 12, pp. 1430-8. https://doi.org/10.1016/j.jalz.2015.04.006

APA

Nordestgaard, L. T., Tybjærg-Hansen, A., Nordestgaard, B. G., & Frikke-Schmidt, R. (2015). Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease. Alzheimer's & Dementia, 11(12), 1430-8. https://doi.org/10.1016/j.jalz.2015.04.006

Vancouver

Nordestgaard LT, Tybjærg-Hansen A, Nordestgaard BG, Frikke-Schmidt R. Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease. Alzheimer's & Dementia. 2015 Dec;11(12):1430-8. https://doi.org/10.1016/j.jalz.2015.04.006

Author

Nordestgaard, Liv Tybjærg ; Tybjærg-Hansen, Anne ; Nordestgaard, Børge G ; Frikke-Schmidt, Ruth. / Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease. In: Alzheimer's & Dementia. 2015 ; Vol. 11, No. 12. pp. 1430-8.

Bibtex

@article{912caceaffe94cdb8d72c8646e57fad9,

title = "Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease",

abstract = "INTRODUCTION: The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is a major cholesterol transporter highly expressed in the liver and brain. In the brain, ABCA1 lipidates apolipoprotein E (apoE), facilitates clearance of amyloid-β, and may be involved in maintenance of the blood-brain barrier via apoE-mediated pathways.METHODS: We tested whether a loss-of-function mutation in ABCA1, N1800H, is associated with plasma levels of apoE and with risk of Alzheimer's disease (AD) in 92,726 individuals and with risk of cerebrovascular disease in 64,181 individuals.RESULTS: N1800H AC (0.2%) versus AA (99.8%) was associated with a 13% lower plasma level of apoE (P = 1 × 10(-11)). Multifactorially adjusted hazard ratios for N1800H AC versus AA were 4.13 (95% confidence interval, 1.32-12.9) for AD, 2.46 (1.10-5.50) for cerebrovascular disease, and 8.28 (2.03-33.7) for the hemorrhagic stroke subtype.DISCUSSION: A loss-of-function mutation in ABCA1, present in 1:500 individuals, was associated with low plasma levels of apoE and with high risk of AD and cerebrovascular disease in the general population.",

author = "Nordestgaard, {Liv Tybj{\ae}rg} and Anne Tybj{\ae}rg-Hansen and Nordestgaard, {B{\o}rge G} and Ruth Frikke-Schmidt",

year = "2015",

month = dec,

doi = "10.1016/j.jalz.2015.04.006",

language = "English",

volume = "11",

pages = "1430--8",

journal = "Alzheimer's & Dementia",

issn = "1552-5260",

publisher = "Elsevier",

number = "12",

}

RIS

TY - JOUR

T1 - Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease

AU - Nordestgaard, Liv Tybjærg

AU - Tybjærg-Hansen, Anne

AU - Nordestgaard, Børge G

AU - Frikke-Schmidt, Ruth

PY - 2015/12

Y1 - 2015/12

N2 - INTRODUCTION: The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is a major cholesterol transporter highly expressed in the liver and brain. In the brain, ABCA1 lipidates apolipoprotein E (apoE), facilitates clearance of amyloid-β, and may be involved in maintenance of the blood-brain barrier via apoE-mediated pathways.METHODS: We tested whether a loss-of-function mutation in ABCA1, N1800H, is associated with plasma levels of apoE and with risk of Alzheimer's disease (AD) in 92,726 individuals and with risk of cerebrovascular disease in 64,181 individuals.RESULTS: N1800H AC (0.2%) versus AA (99.8%) was associated with a 13% lower plasma level of apoE (P = 1 × 10(-11)). Multifactorially adjusted hazard ratios for N1800H AC versus AA were 4.13 (95% confidence interval, 1.32-12.9) for AD, 2.46 (1.10-5.50) for cerebrovascular disease, and 8.28 (2.03-33.7) for the hemorrhagic stroke subtype.DISCUSSION: A loss-of-function mutation in ABCA1, present in 1:500 individuals, was associated with low plasma levels of apoE and with high risk of AD and cerebrovascular disease in the general population.

AB - INTRODUCTION: The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is a major cholesterol transporter highly expressed in the liver and brain. In the brain, ABCA1 lipidates apolipoprotein E (apoE), facilitates clearance of amyloid-β, and may be involved in maintenance of the blood-brain barrier via apoE-mediated pathways.METHODS: We tested whether a loss-of-function mutation in ABCA1, N1800H, is associated with plasma levels of apoE and with risk of Alzheimer's disease (AD) in 92,726 individuals and with risk of cerebrovascular disease in 64,181 individuals.RESULTS: N1800H AC (0.2%) versus AA (99.8%) was associated with a 13% lower plasma level of apoE (P = 1 × 10(-11)). Multifactorially adjusted hazard ratios for N1800H AC versus AA were 4.13 (95% confidence interval, 1.32-12.9) for AD, 2.46 (1.10-5.50) for cerebrovascular disease, and 8.28 (2.03-33.7) for the hemorrhagic stroke subtype.DISCUSSION: A loss-of-function mutation in ABCA1, present in 1:500 individuals, was associated with low plasma levels of apoE and with high risk of AD and cerebrovascular disease in the general population.

U2 - 10.1016/j.jalz.2015.04.006

DO - 10.1016/j.jalz.2015.04.006

M3 - Journal article

C2 - 26079414

VL - 11

SP - 1430

EP - 1438

JO - Alzheimer's & Dementia

JF - Alzheimer's & Dementia

SN - 1552-5260

IS - 12

ER -

ID: 162410054

Department of Clinical Medicine