Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

Johanna Jakobsdottir; Sven J. van der Lee; Joshua C. Bis; Vincent Chouraki; David Li-Kroeger; Shinya Yamamoto; Megan L. Grove; Adam Naj; Maria Vronskaya; Jose L. Salazar; Anita L. DeStefano; Jennifer A. Brody; Albert V. Smith; Najaf Amin; Rebecca Sims; Carla A. Ibrahim-Verbaas; Seung-Hoan Choi; Claudia L. Satizabal; Oscar L. Lopez; Alexa Beiser; M. Arfan Ikram; Melissa E. Garcia; Caroline Hayward; Tibor V. Varga; Samuli Ripatti; Paul W. Franks; Goran Hallmans; Olov Rolandsson; Jan-Hakon Jansson; David J. Porteous; Veikko Salomaa; Gudny Eiriksdottir; Kenneth M. Rice; Hugo J. Bellen; Daniel Levy; Andre G. Uitterlinden; Valur Emilsson; Jerome I. Rotter; Thor Aspelund; Christopher J. O'Donnell; Annette L. Fitzpatrick; Lenore J. Launer; Albert Hofman; Li-San Wang; Julie Williams; Gerard D. Schellenberg; Eric Boerwinkle; Bruce M. Psaty; Sudha Seshadri; Joshua M. Shulman; Cohorts Heart Aging Res Genomic Ep; Genetic Environm Risk Alzheimer's

doi:10.1371/journal.pgen.1006327

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto, Megan L. Grove, Adam Naj, Maria Vronskaya, Jose L. Salazar, Anita L. DeStefano, Jennifer A. Brody, Albert V. Smith, Najaf Amin, Rebecca Sims, Carla A. Ibrahim-Verbaas, Seung-Hoan Choi, Claudia L. Satizabal, Oscar L. Lopez, Alexa BeiserM. Arfan Ikram, Melissa E. Garcia, Caroline Hayward, Tibor V. Varga, Samuli Ripatti, Paul W. Franks, Goran Hallmans, Olov Rolandsson, Jan-Hakon Jansson, David J. Porteous, Veikko Salomaa, Gudny Eiriksdottir, Kenneth M. Rice, Hugo J. Bellen, Daniel Levy, Andre G. Uitterlinden, Valur Emilsson, Jerome I. Rotter, Thor Aspelund, Christopher J. O'Donnell, Annette L. Fitzpatrick, Lenore J. Launer, Albert Hofman, Li-San Wang, Julie Williams, Gerard D. Schellenberg, Eric Boerwinkle, Bruce M. Psaty, Sudha Seshadri, Joshua M. Shulman, Cohorts Heart Aging Res Genomic Ep, Genetic Environm Risk Alzheimer's

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	1006327
Journal	PLoS Genetics
Volume	12
Issue number	10
Number of pages	17
ISSN	1553-7404
DOIs	https://doi.org/10.1371/journal.pgen.1006327
Publication status	Published - Oct 2016
MoE publication type	A1 Journal article-refereed

Fields of Science

GENOME-WIDE ASSOCIATION
DROSOPHILA-MELANOGASTER DEVELOPMENT
HAPLOTYPE RECONSTRUCTION
IDENTIFIES VARIANTS
APOLIPOPROTEIN-E
COMMON VARIANTS
UNITED-STATES
PROTEIN
GENETICS
MUTATION
3111 Biomedicine

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10.1371/journal.pgen.1006327

Rare Functional VariantFinal published version, 3.36 MBLicence: CC BY

Cite this

Jakobsdottir, J., van der Lee, S. J., Bis, J. C., Chouraki, V., Li-Kroeger, D., Yamamoto, S., Grove, M. L., Naj, A., Vronskaya, M., Salazar, J. L., DeStefano, A. L., Brody, J. A., Smith, A. V., Amin, N., Sims, R., Ibrahim-Verbaas, C. A., Choi, S-H., Satizabal, C. L., Lopez, O. L., ... Genetic Environm Risk Alzheimer's (2016). Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genetics, 12(10), [1006327]. https://doi.org/10.1371/journal.pgen.1006327

Jakobsdottir, Johanna ; van der Lee, Sven J. ; Bis, Joshua C. ; Chouraki, Vincent ; Li-Kroeger, David ; Yamamoto, Shinya ; Grove, Megan L. ; Naj, Adam ; Vronskaya, Maria ; Salazar, Jose L. ; DeStefano, Anita L. ; Brody, Jennifer A. ; Smith, Albert V. ; Amin, Najaf ; Sims, Rebecca ; Ibrahim-Verbaas, Carla A. ; Choi, Seung-Hoan ; Satizabal, Claudia L. ; Lopez, Oscar L. ; Beiser, Alexa ; Ikram, M. Arfan ; Garcia, Melissa E. ; Hayward, Caroline ; Varga, Tibor V. ; Ripatti, Samuli ; Franks, Paul W. ; Hallmans, Goran ; Rolandsson, Olov ; Jansson, Jan-Hakon ; Porteous, David J. ; Salomaa, Veikko ; Eiriksdottir, Gudny ; Rice, Kenneth M. ; Bellen, Hugo J. ; Levy, Daniel ; Uitterlinden, Andre G. ; Emilsson, Valur ; Rotter, Jerome I. ; Aspelund, Thor ; O'Donnell, Christopher J. ; Fitzpatrick, Annette L. ; Launer, Lenore J. ; Hofman, Albert ; Wang, Li-San ; Williams, Julie ; Schellenberg, Gerard D. ; Boerwinkle, Eric ; Psaty, Bruce M. ; Seshadri, Sudha ; Shulman, Joshua M. ; Cohorts Heart Aging Res Genomic Ep ; Genetic Environm Risk Alzheimer's. / Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. In: PLoS Genetics. 2016 ; Vol. 12, No. 10.

@article{43dadde12d4f401d9333b00808f1ac86,

title = "Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease",

keywords = "GENOME-WIDE ASSOCIATION, DROSOPHILA-MELANOGASTER DEVELOPMENT, HAPLOTYPE RECONSTRUCTION, IDENTIFIES VARIANTS, APOLIPOPROTEIN-E, COMMON VARIANTS, UNITED-STATES, PROTEIN, GENETICS, MUTATION, 3111 Biomedicine",

author = "Johanna Jakobsdottir and {van der Lee}, {Sven J.} and Bis, {Joshua C.} and Vincent Chouraki and David Li-Kroeger and Shinya Yamamoto and Grove, {Megan L.} and Adam Naj and Maria Vronskaya and Salazar, {Jose L.} and DeStefano, {Anita L.} and Brody, {Jennifer A.} and Smith, {Albert V.} and Najaf Amin and Rebecca Sims and Ibrahim-Verbaas, {Carla A.} and Seung-Hoan Choi and Satizabal, {Claudia L.} and Lopez, {Oscar L.} and Alexa Beiser and Ikram, {M. Arfan} and Garcia, {Melissa E.} and Caroline Hayward and Varga, {Tibor V.} and Samuli Ripatti and Franks, {Paul W.} and Goran Hallmans and Olov Rolandsson and Jan-Hakon Jansson and Porteous, {David J.} and Veikko Salomaa and Gudny Eiriksdottir and Rice, {Kenneth M.} and Bellen, {Hugo J.} and Daniel Levy and Uitterlinden, {Andre G.} and Valur Emilsson and Rotter, {Jerome I.} and Thor Aspelund and O'Donnell, {Christopher J.} and Fitzpatrick, {Annette L.} and Launer, {Lenore J.} and Albert Hofman and Li-San Wang and Julie Williams and Schellenberg, {Gerard D.} and Eric Boerwinkle and Psaty, {Bruce M.} and Sudha Seshadri and Shulman, {Joshua M.} and {Cohorts Heart Aging Res Genomic Ep} and {Genetic Environm Risk Alzheimer's}",

year = "2016",

month = oct,

doi = "10.1371/journal.pgen.1006327",

language = "English",

volume = "12",

journal = "PLoS Genetics",

issn = "1553-7390",

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Jakobsdottir, J, van der Lee, SJ, Bis, JC, Chouraki, V, Li-Kroeger, D, Yamamoto, S, Grove, ML, Naj, A, Vronskaya, M, Salazar, JL, DeStefano, AL, Brody, JA, Smith, AV, Amin, N, Sims, R, Ibrahim-Verbaas, CA, Choi, S-H, Satizabal, CL, Lopez, OL, Beiser, A, Ikram, MA, Garcia, ME, Hayward, C, Varga, TV, Ripatti, S, Franks, PW, Hallmans, G, Rolandsson, O, Jansson, J-H, Porteous, DJ, Salomaa, V, Eiriksdottir, G, Rice, KM, Bellen, HJ, Levy, D, Uitterlinden, AG, Emilsson, V, Rotter, JI, Aspelund, T, O'Donnell, CJ, Fitzpatrick, AL, Launer, LJ, Hofman, A, Wang, L-S, Williams, J, Schellenberg, GD, Boerwinkle, E, Psaty, BM, Seshadri, S, Shulman, JM, Cohorts Heart Aging Res Genomic Ep & Genetic Environm Risk Alzheimer's 2016, 'Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease', PLoS Genetics, vol. 12, no. 10, 1006327. https://doi.org/10.1371/journal.pgen.1006327

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. / Jakobsdottir, Johanna; van der Lee, Sven J.; Bis, Joshua C.; Chouraki, Vincent; Li-Kroeger, David; Yamamoto, Shinya; Grove, Megan L.; Naj, Adam; Vronskaya, Maria; Salazar, Jose L.; DeStefano, Anita L.; Brody, Jennifer A.; Smith, Albert V.; Amin, Najaf; Sims, Rebecca; Ibrahim-Verbaas, Carla A.; Choi, Seung-Hoan; Satizabal, Claudia L.; Lopez, Oscar L.; Beiser, Alexa; Ikram, M. Arfan; Garcia, Melissa E.; Hayward, Caroline; Varga, Tibor V.; Ripatti, Samuli; Franks, Paul W.; Hallmans, Goran; Rolandsson, Olov; Jansson, Jan-Hakon; Porteous, David J.; Salomaa, Veikko; Eiriksdottir, Gudny; Rice, Kenneth M.; Bellen, Hugo J.; Levy, Daniel; Uitterlinden, Andre G.; Emilsson, Valur; Rotter, Jerome I.; Aspelund, Thor; O'Donnell, Christopher J.; Fitzpatrick, Annette L.; Launer, Lenore J.; Hofman, Albert; Wang, Li-San; Williams, Julie; Schellenberg, Gerard D.; Boerwinkle, Eric; Psaty, Bruce M.; Seshadri, Sudha; Shulman, Joshua M.; Cohorts Heart Aging Res Genomic Ep; Genetic Environm Risk Alzheimer's.

In: PLoS Genetics, Vol. 12, No. 10, 1006327, 10.2016.

Research output: Contribution to journal › Article › Scientific › peer-review

TY - JOUR

T1 - Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

AU - Jakobsdottir, Johanna

AU - van der Lee, Sven J.

AU - Bis, Joshua C.

AU - Chouraki, Vincent

AU - Li-Kroeger, David

AU - Yamamoto, Shinya

AU - Grove, Megan L.

AU - Naj, Adam

AU - Vronskaya, Maria

AU - Salazar, Jose L.

AU - DeStefano, Anita L.

AU - Brody, Jennifer A.

AU - Smith, Albert V.

AU - Amin, Najaf

AU - Sims, Rebecca

AU - Ibrahim-Verbaas, Carla A.

AU - Choi, Seung-Hoan

AU - Satizabal, Claudia L.

AU - Lopez, Oscar L.

AU - Beiser, Alexa

AU - Ikram, M. Arfan

AU - Garcia, Melissa E.

AU - Hayward, Caroline

AU - Varga, Tibor V.

AU - Ripatti, Samuli

AU - Franks, Paul W.

AU - Hallmans, Goran

AU - Rolandsson, Olov

AU - Jansson, Jan-Hakon

AU - Porteous, David J.

AU - Salomaa, Veikko

AU - Eiriksdottir, Gudny

AU - Rice, Kenneth M.

AU - Bellen, Hugo J.

AU - Levy, Daniel

AU - Uitterlinden, Andre G.

AU - Emilsson, Valur

AU - Rotter, Jerome I.

AU - Aspelund, Thor

AU - O'Donnell, Christopher J.

AU - Fitzpatrick, Annette L.

AU - Launer, Lenore J.

AU - Hofman, Albert

AU - Wang, Li-San

AU - Williams, Julie

AU - Schellenberg, Gerard D.

AU - Boerwinkle, Eric

AU - Psaty, Bruce M.

AU - Seshadri, Sudha

AU - Shulman, Joshua M.

AU - Cohorts Heart Aging Res Genomic Ep

AU - Genetic Environm Risk Alzheimer's

PY - 2016/10

Y1 - 2016/10

KW - GENOME-WIDE ASSOCIATION

KW - DROSOPHILA-MELANOGASTER DEVELOPMENT

KW - HAPLOTYPE RECONSTRUCTION

KW - IDENTIFIES VARIANTS

KW - APOLIPOPROTEIN-E

KW - COMMON VARIANTS

KW - UNITED-STATES

KW - PROTEIN

KW - GENETICS

KW - MUTATION

KW - 3111 Biomedicine

U2 - 10.1371/journal.pgen.1006327

DO - 10.1371/journal.pgen.1006327

M3 - Article

VL - 12

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7390

IS - 10

M1 - 1006327

ER -