TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)

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

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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). / Rostgaard, Nina; Roos, Peter; Budtz-Jørgensen, Esben; Johannsen, Peter; Waldemar, Gunhild; Nørremølle, Anne; Lindquist, Suzanne G.; Gydesen, Susanne; Brown, Jeremy M.; Collinge, John; Isaacs, Adrian M.; Nielsen, Troels T.; Nielsen, Jørgen E; FReJA collaboration.

In: Neurobiology of Aging, Vol. 59, 11.2017, p. 221.e1-221.e7.

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

Harvard

Rostgaard, N, Roos, P, Budtz-Jørgensen, E, Johannsen, P, Waldemar, G, Nørremølle, A, Lindquist, SG, Gydesen, S, Brown, JM, Collinge, J, Isaacs, AM, Nielsen, TT, Nielsen, JE & FReJA collaboration 2017, 'TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)', Neurobiology of Aging, vol. 59, pp. 221.e1-221.e7. https://doi.org/10.1016/j.neurobiolaging.2017.06.026

APA

Rostgaard, N., Roos, P., Budtz-Jørgensen, E., Johannsen, P., Waldemar, G., Nørremølle, A., Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, J. E., & FReJA collaboration (2017). TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiology of Aging, 59, 221.e1-221.e7. https://doi.org/10.1016/j.neurobiolaging.2017.06.026

Vancouver

Rostgaard N, Roos P, Budtz-Jørgensen E, Johannsen P, Waldemar G, Nørremølle A et al. TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiology of Aging. 2017 Nov;59:221.e1-221.e7. https://doi.org/10.1016/j.neurobiolaging.2017.06.026

Author

Rostgaard, Nina ; Roos, Peter ; Budtz-Jørgensen, Esben ; Johannsen, Peter ; Waldemar, Gunhild ; Nørremølle, Anne ; Lindquist, Suzanne G. ; Gydesen, Susanne ; Brown, Jeremy M. ; Collinge, John ; Isaacs, Adrian M. ; Nielsen, Troels T. ; Nielsen, Jørgen E ; FReJA collaboration. / TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). In: Neurobiology of Aging. 2017 ; Vol. 59. pp. 221.e1-221.e7.

Bibtex

@article{b4f00c23ec6143ed8e3aa991f36f303c,

title = "TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)",

abstract = "Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD). Although TMEM106B and CHMP2B share cellular function in that both localize to endolysosomes, TMEM106B genotypes appeared to have no influence on the clinical disease course. ApoE ε4 was found to be a protective factor with later AAO and AAI, whereas ε2 seemed to aggravate the disease with earlier AAO and AAD. These results indicate ApoE ε2 as a risk factor in FTD-3 and suggest a protective role of ε4.",

keywords = "Adult, Aged, Aged, 80 and over, Apolipoprotein E2, Disease Progression, Endosomal Sorting Complexes Required for Transport, Female, Frontotemporal Dementia, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Risk Factors, Journal Article",

author = "Nina Rostgaard and Peter Roos and Esben Budtz-J{\o}rgensen and Peter Johannsen and Gunhild Waldemar and Anne N{\o}rrem{\o}lle and Lindquist, {Suzanne G.} and Susanne Gydesen and Brown, {Jeremy M.} and John Collinge and Isaacs, {Adrian M.} and Nielsen, {Troels T.} and Nielsen, {J{\o}rgen E} and {FReJA collaboration}",

year = "2017",

month = nov,

doi = "10.1016/j.neurobiolaging.2017.06.026",

language = "English",

volume = "59",

pages = "221.e1--221.e7",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)

AU - Rostgaard, Nina

AU - Roos, Peter

AU - Budtz-Jørgensen, Esben

AU - Johannsen, Peter

AU - Waldemar, Gunhild

AU - Nørremølle, Anne

AU - Lindquist, Suzanne G.

AU - Gydesen, Susanne

AU - Brown, Jeremy M.

AU - Collinge, John

AU - Isaacs, Adrian M.

AU - Nielsen, Troels T.

AU - Nielsen, Jørgen E

AU - FReJA collaboration

PY - 2017/11

Y1 - 2017/11

N2 - Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD). Although TMEM106B and CHMP2B share cellular function in that both localize to endolysosomes, TMEM106B genotypes appeared to have no influence on the clinical disease course. ApoE ε4 was found to be a protective factor with later AAO and AAI, whereas ε2 seemed to aggravate the disease with earlier AAO and AAD. These results indicate ApoE ε2 as a risk factor in FTD-3 and suggest a protective role of ε4.

AB - Single-nucleotide polymorphisms in the TMEM106B gene have been identified as a risk factor in frontotemporal dementia (FTD). The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. The role of apolipoprotein E (ApoE) in FTD is uncertain, though an established risk factor in Alzheimer's disease. In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). In this family, both risk factors TMEM106B and ApoE were analyzed and correlated to age at onset (AAO) and progression in terms of age at institutionalization (AAI) and age at death (AAD). Although TMEM106B and CHMP2B share cellular function in that both localize to endolysosomes, TMEM106B genotypes appeared to have no influence on the clinical disease course. ApoE ε4 was found to be a protective factor with later AAO and AAI, whereas ε2 seemed to aggravate the disease with earlier AAO and AAD. These results indicate ApoE ε2 as a risk factor in FTD-3 and suggest a protective role of ε4.

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Apolipoprotein E2

KW - Disease Progression

KW - Endosomal Sorting Complexes Required for Transport

KW - Female

KW - Frontotemporal Dementia

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Middle Aged

KW - Mutation

KW - Nerve Tissue Proteins

KW - Polymorphism, Single Nucleotide

KW - Risk Factors

KW - Journal Article

U2 - 10.1016/j.neurobiolaging.2017.06.026

DO - 10.1016/j.neurobiolaging.2017.06.026

M3 - Journal article

C2 - 28888721

VL - 59

SP - 221.e1-221.e7

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -

ID: 189155484

Department of Public Health