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@ARTICLE{Jun:138293,
author = {Jun, G. and Ibrahim-Verbaas, C. A. and Vronskaya, M. and
Lambert, J-C and Chung, J. and Naj, A. C. and Kunkle, B. W.
and Wang, L-S and Bis, J. C. and Bellenguez, C. and Harold,
D. and Lunetta, K. L. and Destefano, A. L. and
Grenier-Boley, B. and Sims, R. and Beecham, G. W. and Smith,
A. V. and Chouraki, V. and Hamilton-Nelson, K. L. and Ikram,
M. A. and Fievet, N. and Denning, N. and Martin, E. R. and
Schmidt, H. and Kamatani, Y. and Dunstan, M. L. and
Valladares, O. and Laza, A. R. and Zelenika, D. and Ramirez,
A. and Foroud, T. M. and Choi, S-H and Boland, A. and
Becker, T. and Kukull, W. A. and van der Lee, S. J. and
Pasquier, F. and Cruchaga, C. and Beekly, D. and
Fitzpatrick, A. L. and Hanon, O. and Gill, M. and Barber, R.
and Gudnason, V. and Campion, D. and Love, S. and Bennett,
D. A. and Amin, N. and Berr, C. and Tsolaki, Magda and
Buxbaum, J. D. and Lopez, O. L. and Deramecourt, V. and Fox,
N. C. and Cantwell, L. B. and Tárraga, L. and Dufouil, C.
and Hardy, J. and Crane, P. K. and Eiriksdottir, G. and
Hannequin, D. and Clarke, R. and Evans, D. and Mosley, T. H.
and Letenneur, L. and Brayne, C. and Maier, Wolfgang and De
Jager, P. and Emilsson, V. and Dartigues, J-F and Hampel, H.
and Kamboh, M. I. and de Bruijn, R. F. A. G. and Tzourio, C.
and Pastor, P. and Larson, E. B. and Rotter, J. I. and
O'Donovan, M. C. and Montine, T. J. and Nalls, M. A. and
Mead, S. and Reiman, E. M. and Jonsson, P. V. and Holmes, C.
and St George-Hyslop, P. H. and Boada, M. and Passmore, P.
and Wendland, J. R. and Schmidt, R. and Morgan, K. and
Winslow, A. R. and Powell, J. F. and Carasquillo, M. and
Younkin, S. G. and Jakobsdóttir, J. and Kauwe, J. S. K. and
Wilhelmsen, K. C. and Rujescu, D. and Nöthen, M. M. and
Hofman, A. and Jones, L. and Consortium, IGAP and Haines, J.
L. and Psaty, B. M. and Van Broeckhoven, C. and Holmans, P.
and Launer, L. J. and Mayeux, R. and Lathrop, M. and Goate,
A. M. and Escott-Price, V. and Seshadri, S. and
Pericak-Vance, M. A. and Amouyel, P. and Williams, J. and
van Duijn, C. M. and Schellenberg, G. D. and Farrer, L. A.
and Adams, Perrie M and Albert, Marilyn S and Albin, Roger L
and Apostolova, Liana G and Arnold, Steven E and Asthana,
Sanjay and Atwood, Craig S and Baldwin, Clinton T and
Barmada, Michjael M and Barnes, Lisa L and Beach, Thomas G
and Becker, James T and Bigio, Eileen H and Bird, Thomas D
and Blacker, Deborah and Boeve, Bradley F and Bowen, James D
and Boxer, Adam and Burke, James R and Cairns, Nigel J and
Cao, Chuanhai and Carlson, Chris S and Carlsson, Cynthia M
and Carney, Regina M and Carrasquillo, Minerva M and
Carroll, Steven L and Chui, Helena C and Clark, David G and
Corneveaux, Jason and Cribbs, David H and Crocco, Elizabeth
A and Cruchaga, Carlos and De Jager, Philip L and DeCarli,
Charles and DeKosky, Steven T and Demirci, F Yesim and Dick,
Malcolm and Dickson, Dennis W and Doody, Rachelle S and
Duara, Ranjan and Ertekin-Taner, Nilufer and Faber, Kelley M
and Fairchild, Thomas J and Fallon, Kenneth B and Farlow,
Martin R and Ferris, Steven and Frosch, Matthew P and
Galasko, Douglas R and Gearing, Marla and Geschwind, Daniel
H and Ghetti, Bernardino and Gilbert, John R and Glass,
Jonathan D and Graff-Radford, Neill R and Green, Robert C
and Growdon, John H and Hakonarson, Hakon and Hamilton,
Ronald L and Hardy, John and Harrell, Lindy E and Head,
Elizabeth and Honig, Lawrence S and Huebinger, Ryan M and
Huentelman, Matthew J and Hulette, Christine M and Hyman,
Bradley T and Jarvik, Gail P and Jicha, Gregory A and Jin,
Lee-Way and Karydas, Anna and Kauwe, John Sk and Kaye,
Jeffrey A and Kim, Ronald and Koo, Edward H and Kowall, Neil
W and Kramer, Joel H and LaFerla, Frank M and Lah, James J
and Leverenz, James B and Levey, Allan I and Li, Ge and
Lieberman, Andrew P and Lin, Chiao-Feng and Lopez, Oscar L
and Lyketsos, Constantine G and Mack, Wendy J and Marson,
Daniel C and Martiniuk, Frank and Mash, Deborah C and
Masliah, Eliezer and McCormick, Wayne C and McCurry, Susan M
and McDavid, Andrew N and McKee, Ann C and Mesulam, Marsel
and Miller, Bruce L and Miller, Carol A and Miller, Joshua W
and Morris, John C and Mukherjee, Shubhabrata and Murrell,
Jill R and Myers, Amanda J and O'Bryant, Sid and Olichney,
John M and Pankratz, Vernon S and Parisi, Joseph E and
Partch, Amanda and Paulson, Henry L and Perry, William and
Peskind, Elaine and Petersen, Ronald C and Pierce, Aimee and
Poon, Wayne W and Potter, Huntington and Quinn, Joseph F and
Raj, Ashok and Raskind, Murray and Reisberg, Barry and
Reisch, Joan S and Reitz, Christiane and Ringman, John M and
Roberson, Erik D and Rogaeva, Ekaterina and Rosen, Howard J
and Rosenberg, Roger N and Royall, Donald R and Sager, Mark
A and Sano, Mary and Saykin, Andrew J and Schneider, Julie A
and Schneider, Lon S and Seeley, William W and Smith, Amanda
G and Sonnen, Joshua A and Spina, Salvatore and Stern,
Robert A and Tanzi, Rudolph E and Thornton-Wells, Tricia A
and Trojanowski, John Q and Troncoso, Juan C and Tsuang,
Debby W and Van Deerlin, Vivianna M and Van Eldik, Linda J
and Vardarajan, Badri N and Vinters, Harry V and Vonsattel,
Jean Paul and Weintraub, Sandra and Welsh-Bohmer, Kathleen A
and Williamson, Jennifer and Wishnek, Sarah and Woltjer,
Randall L and Wright, Clinton B and Wu, Chuang-Kuo and Yu,
Chang-En and Yu, Lei and Au, Rhoda and Wolf, Philip A and
Beiser, Alexa and Satizabal, Claudia and Uitterlinden, Andre
G and Rivadeneira, Fernando and Koudstaal, Peter J and
Longstreth, William T and Becker, James T and Kuller, Lewis
H and Lumley, Thomas and Rice, Kenneth and Harris, Tamara B
and Nalls, Michael and Marksteiner, Josef J M and
Dal-Bianco, Peter and Töglhofer, Anna Maria and
Freudenberger, Paul and Ransmayr, Gerhard and Benke, Thomas
and Toeglhofer, Anna M and Boerwinkle, Eric and Bressler,
Jan and Fornage, Myriam and Morón, Francisco J and
Hernández, Isabel and Roca, Maitee Rosende and Mauleón,
Ana and Alegret, Montserrat and Ramírez-Lorca, Reposo and
González-Perez, Antonio and Alpérovitch, Annick and
Alvarez, Victoria and Barberger-Gateau, Pascale and Bettens,
Karolien and Bossù, Paola and Brice, Alexis and Bullido,
Maria and Caffara, Paolo and Clarimon, Jordi and Combarros,
Onofre and Coto, Eliecer and Del Zampo, Maria and Delepine,
Marc and Deniz Naranjo, Maria Candida and Epelbaum, Jacques
and Fratiglioni, Laura and Galimberti, Daniela and Graff,
Caroline and Hiltunen, Mikko and Ingelsson, Martin and
Keller, Lina and Lannfelt, Lars and Llèo, Alberto and
Mancuso, Michelangelo and Mateo, Ignacio and Mecocci,
Patrizia and Nacmias, Benedetta and Panza, Francesco and
Pilotto, Alberto and Garcia, Florentino Sanchez and
Scarpini, Elio and Seripa, Davide and Sleegers, Kristel and
Soininen, Hlikka and Sorbi, Sandro and Spalletta, Gianfranco
and Wallon, David and Thomas, Charlene and Gerrish, Amy and
Chapman, Jade and Stretton, Alexandra and Morgan, Angharad
and Oldham, Harriet and Owen, Michael J and Kehoe, Patrick G
and Medway, Christopher and Brown, Kristelle and Lord, Jenny
and Turton, James and Hooper, Nigel M and Vardy, Emma and
Warren, Jason D and Schott, Jonathan M and Uphill, James and
Hollingworth, Paul and Ryan, Natalie and Rossor, Martin and
Collinge, John and Ben-Shlomo, Yoav and Makrina, Daniilidou
and Gkatzima, Olymbia and Lupton, Michelle and Koutroumani,
Maria and Avramidou, Despoina and Germanou, Antonia and
Jessen, Frank and Riedel-Heller, Steffi and Dichgans, Martin
and Heun, Reiner and Kölsch, Heike and Schürmann, Britta
and Herold, Christine and Lacour, André and Drichel,
Dmitriy and Hoffmann, Per and Kornhuber, Johannes and Gu,
Wei and Feulner, Thomas and Mayhaus, Manuel and Pichler,
Sabrina and Riemenschneider, Matthias and van den Bussche,
Hendrik and Lawlor, Brian and Lynch, Aoibhinn and Mann,
David and Smith, A David and Warden, Donald and Wilcock,
Gordon and Heuser, Isabella and Wiltfang, Jens and Frölich,
Lutz and Hüll, Michael and Mayo, Kevin and Livingston, Gill
and Bass, Nicholas J and Gurling, Hugh and McQuillin, Andrew
and Gwilliam, Rhian and Deloukas, Panagiotis and Al-Chalabi,
Ammar and Shaw, Christopher E and Singleton, Andrew B and
Guerreiro, Rita and Russo, Giancarlo and Jöckel, Karl-Heinz
and Moebus, Susanne and Klopp, Norman and Wichmann, H-Erich
and Dickson, Dennis W and Graff-Radford, Neill R and Ma, Li
and Bisceglio, Gina and Fisher, Elizabeth and Warner, Nick
and Pickering-Brown, Stuart and Craig, David and Johnston,
Janet A and McGuinness, Bernadette and Todd, Stephen and
Rubinsztein, David C and Lovestone, Simon and Bayer, Anthony
and Gallacher, John and Proitsi, Petroula and Ortega-Cubero,
Sara},
title = {{A} novel {A}lzheimer disease locus located near the gene
encoding tau protein.},
journal = {Molecular psychiatry},
volume = {21},
number = {1},
issn = {1359-4184},
address = {London},
publisher = {Macmillan},
reportid = {DZNE-2020-04615},
pages = {108-117},
year = {2016},
abstract = {APOE ɛ4, the most significant genetic risk factor for
Alzheimer disease (AD), may mask effects of other loci. We
re-analyzed genome-wide association study (GWAS) data from
the International Genomics of Alzheimer’s Project (IGAP)
Consortium in APOE ɛ4+ (10 352 cases and 9207 controls)
and APOE ɛ4− (7184 cases and 26 968 controls) subgroups
as well as in the total sample testing for interaction
between a single-nucleotide polymorphism (SNP) and APOE ɛ4
status. Suggestive associations (P<1 × 10-4) in stage 1
were evaluated in an independent sample (stage 2) containing
4203 subjects (APOE ɛ4+: 1250 cases and 536 controls; APOE
ɛ4−: 718 cases and 1699 controls). Among APOE ɛ4−
subjects, novel genome-wide significant (GWS) association
was observed with 17 SNPs (all between KANSL1 and LRRC37A on
chromosome 17 near MAPT) in a meta-analysis of the stage 1
and stage 2 data sets (best SNP, rs2732703, P=5·8 ×
10−9). Conditional analysis revealed that rs2732703
accounted for association signals in the entire 100-kilobase
region that includes MAPT. Except for previously identified
AD loci showing stronger association in APOE ɛ4+ subjects
(CR1 and CLU) or APOE ɛ4− subjects
(MS4A6A/MS4A4A/MS4A6E), no other SNPs were significantly
associated with AD in a specific APOE genotype subgroup. In
addition, the finding in the stage 1 sample that AD risk is
significantly influenced by the interaction of APOE with
rs1595014 in TMEM106B (P=1·6 × 10−7) is noteworthy,
because TMEM106B variants have previously been associated
with risk of frontotemporal dementia. Expression
quantitative trait locus analysis revealed that rs113986870,
one of the GWS SNPs near rs2732703, is significantly
associated with four KANSL1 probes that target transcription
of the first translated exon and an untranslated exon in
hippocampus (P⩽1.3 × 10-8), frontal cortex (P⩽1.3 ×
10-9) and temporal cortex (P⩽1.2 × 10−11). Rs113986870
is also strongly associated with a MAPT probe that targets
transcription of alternatively spliced exon 3 in frontal
cortex (P=9.2 × 10−6) and temporal cortex (P=2.6 ×
10−6). Our APOE-stratified GWAS is the first to show GWS
association for AD with SNPs in the chromosome 17q21.31
region. Replication of this finding in independent samples
is needed to verify that SNPs in this region have
significantly stronger effects on AD risk in persons lacking
APOE ɛ4 compared with persons carrying this allele, and if
this is found to hold, further examination of this region
and studies aimed at deciphering the mechanism(s) are
warranted.},
keywords = {Alzheimer Disease: genetics / Apolipoprotein E4: genetics /
Chromosomes, Human, Pair 17 / Genome-Wide Association Study
/ Humans / Polymorphism, Single Nucleotide / tau Proteins:
genetics / Apolipoprotein E4 (NLM Chemicals) / MAPT protein,
human (NLM Chemicals) / tau Proteins (NLM Chemicals)},
cin = {GenomMathematik / U Clinical Researchers - Bonn},
ddc = {610},
cid = {I:(DE-2719)1013007 / I:(DE-2719)7000001},
pnm = {344 - Clinical and Health Care Research (POF3-344) / 345 -
Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:25778476},
pmc = {pmc:PMC4573764},
doi = {10.1038/mp.2015.23},
url = {https://pub.dzne.de/record/138293},
}
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