Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, Rebecca; van der Lee, Sven J; Naj, Adam C; Bellenguez, Céline; Badarinarayan, Nandini; Jakobsdottir, Johanna; Kunkle, Brian W; Boland, Anne; Raybould, Rachel; Bis, Joshua C; Martin, Eden R; Grenier-Boley, Benjamin; Heilmann-Heimbach, Stefanie; Chouraki, Vincent; Kuzma, Amanda B; Sleegers, Kristel; Vronskaya, Maria; Ruiz, Agustin; Graham, Robert R; Olaso, Robert; Hoffmann, Per; Grove, Megan L; Vardarajan, Badri N; Hiltunen, Mikko; Nöthen, Markus M; White, Charles C; Hamilton-Nelson, Kara L; Epelbaum, Jacques; Maier, Wolfgang; Choi, Seung-Hoan; Beecham, Gary W; Dulary, Cécile; Herms, Stefan; Smith, Albert V; Funk, Cory C; Derbois, Céline; Forstner, Andreas J; Ahmad, Shahzad; Li, Hongdong; Bacq, Delphine; Harold, Denise; Satizabal, Claudia L; Valladares, Otto; Squassina, Alessio; Thomas, Rhodri; Brody, Jennifer A; Qu, Liming; Sánchez-Juan, Pascual; Morgan, Taniesha; Wolters, Frank J; Zhao, Yi; Garcia, Florentino Sanchez; Denning, Nicola; Fornage, Myriam; Malamon, John; Naranjo, Maria Candida Deniz; Majounie, Elisa; Mosley, Thomas H; Dombroski, Beth; Wallon, David; Lupton, Michelle K; Dupuis, Josée; Whitehead, Patrice; Fratiglioni, Laura; Medway, Christopher; Jian, Xueqiu; Mukherjee, Shubhabrata; Keller, Lina; Brown, Kristelle; Lin, Honghuang; Cantwell, Laura B; Panza, Francesco; McGuinness, Bernadette; Moreno-Grau, Sonia; Burgess, Jeremy D; Solfrizzi, Vincenzo; Proitsi, Petra; Adams, Hieab H; Allen, Mariet; Seripa, Davide; Pastor, Pau; Cupples, L Adrienne; Price, Nathan D; Hannequin, Didier; Frank-García, Ana; Levy, Daniel; Chakrabarty, Paramita; Caffarra, Paolo; Giegling, Ina; Beiser, Alexa S; Giedraitis, Vilmantas; Hampel, Harald; Garcia, Melissa E; Wang, Xue; Lannfelt, Lars; Mecocci, Patrizia; Eiriksdottir, Gudny; Crane, Paul K; Pasquier, Florence; Boccardi, Virginia; Henández, Isabel; Barber, Robert C; Scherer, Martin; Tarraga, Lluis; Adams, Perrie M; Leber, Markus; Chen, Yuning; Albert, Marilyn S; Riedel-Heller, Steffi; Emilsson, Valur; Beekly, Duane; Braae, Anne; Schmidt, Reinhold; Blacker, Deborah; Masullo, Carlo; Schmidt, Helena; Doody, Rachelle S; Spalletta, Gianfranco; Jr, W T Longstreth; Fairchild, Thomas J; Bossù, Paola; Lopez, Oscar L; Frosch, Matthew P; Sacchinelli, Eleonora; Ghetti, Bernardino; Yang, Qiong; Huebinger, Ryan M; Jessen, Frank; Li, Shuo; Kamboh, M Ilyas; Morris, John; Sotolongo-Grau, Oscar; Katz, Mindy J; Corcoran, Chris; Dunstan, Melanie; Braddel, Amy; Thomas, Charlene; Meggy, Alun; Marshall, Rachel; Gerrish, Amy; Chapman, Jade; Aguilar, Miquel; Taylor, Sarah; Hill, Matt; Fairén, Mònica Díez; Hodges, Angela; Vellas, Bruno; Soininen, Hilkka; Kloszewska, Iwona; Daniilidou, Makrina; Uphill, James; Patel, Yogen; Hughes, Joseph T; Lord, Jenny; Turton, James; Hartmann, Annette M; Cecchetti, Roberta; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Caltagirone, Carlo; Orfei, Maria Donata; Ciaramella, Antonio; Pichler, Sabrina; Mayhaus, Manuel; Gu, Wei; Lleó, Alberto; Fortea, Juan; Blesa, Rafael; Barber, Imelda S; Brookes, Keeley; Cupidi, Chiara; Maletta, Raffaele Giovanni; Carrell, David; Sorbi, Sandro; Moebus, Susanne; Urbano, Maria; Pilotto, Alberto; Kornhuber, Johannes; Bosco, Paolo; Todd, Stephen; Craig, David; Johnston, Janet; Gill, Michael; Lawlor, Brian; Lynch, Aoibhinn; Fox, Nick C; Hardy, John; Albin, Roger L; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Baldwin, Clinton T; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Bigio, Eileen H; Bird, Thomas D; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Burke, James R; Burns, Jeffrey M; Buxbaum, Joseph D; Cairns, Nigel J; Cao, Chuanhai; Carlson, Chris S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Carroll, Steven L; Diaz, Carolina Ceballos; Chui, Helena C; Clark, David G; Cribbs, David H; Crocco, Elizabeth A; DeCarli, Charles; Dick, Malcolm; Duara, Ranjan; Evans, Denis A; Faber, Kelley M; Fallon, Kenneth B; Fardo, David W; Farlow, Martin R; Ferris, Steven; Foroud, Tatiana M; Galasko, Douglas R; Gearing, Marla; Geschwind, Daniel H; Gilbert, John R; Graff-Radford, Neill R; Green, Robert C; Growdon, John H; Hamilton, Ronald L; Harrell, Lindy E; Honig, Lawrence S; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Jarvik, Gail P; Abner, Erin; Jin, Lee-Way; Jun, Gyungah; Karydas, Anna; Kaye, Jeffrey A; Kim, Ronald; Kowall, Neil W; Kramer, Joel H; LaFerla, Frank M; Lah, James J; Leverenz, James B; Levey, Allan I; Li, Ge; Lieberman, Andrew P; Lunetta, Kathryn L; Lyketsos, Constantine G; Marson, Daniel C; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Morris, John C; Murrell, Jill R; Myers, Amanda J; O'Bryant, Sid; Olichney, John M; Pankratz, Vernon S; Parisi, Joseph E; Paulson, Henry L; Perry, William; Peskind, Elaine; Pierce, Aimee; Poon, Wayne W; Potter, Huntington; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reisberg, Barry; Reitz, Christiane; Ringman, John M; Roberson, Erik D; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Sager, Mark A; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Smith, Amanda G; Sonnen, Joshua A; Spina, Salvatore; Stern, Robert A; Swerdlow, Russell H; Tanzi, Rudolph E; Thornton-Wells, Tricia A; Trojanowski, John Q; Troncoso, Juan C; Van Deerlin, Vivianna M; Van Eldik, Linda J; Vinters, Harry V; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Wilhelmsen, Kirk C; Williamson, Jennifer; Wingo, Thomas S; Woltjer, Randall L; Wright, Clinton B; Yu, Chang-En; Yu, Lei; Garzia, Fabienne; Golamaully, Feroze; Septier, Gislain; Engelborghs, Sebastien; Vandenberghe, Rik; De Deyn, Peter P; Fernadez, Carmen Muñoz; Benito, Yoland Aladro; Thonberg, Hakan; Forsell, Charlotte; Lilius, Lena; Kinhult-Stählbom, Anne; Kilander, Lena; Brundin, RoseMarie; Concari, Letizia; Helisalmi, Seppo; Koivisto, Anne Maria; Haapasalo, Annakaisa; Dermecourt, Vincent; Fievet, Nathalie; Hanon, Olivier; Dufouil, Carole; Brice, Alexis; Ritchie, Karen; Dubois, Bruno; Himali, Jayanadra J; Keene, C Dirk; Tschanz, JoAnn; Fitzpatrick, Annette L; Kukull, Walter A; Norton, Maria; Aspelund, Thor; Larson, Eric B; Munger, Ron; Rotter, Jerome I; Lipton, Richard B; Bullido, María J; Hofman, Albert; Montine, Thomas J; Coto, Eliecer; Boerwinkle, Eric; Petersen, Ronald C; Alvarez, Victoria; Rivadeneira, Fernando; Reiman, Eric M; Gallo, Maura; O'Donnell, Christopher J; Reisch, Joan S; Bruni, Amalia Cecilia; Royall, Donald R; Dichgans, Martin; Sano, Mary; Galimberti, Daniela; St George-Hyslop, Peter; Scarpini, Elio; Tsuang, Debby W; Mancuso, Michelangelo; Bonuccelli, Ubaldo; Winslow, Ashley R; Daniele, Antonio; Wu, Chuang-Kuo; Peters, Oliver; Nacmias, Benedetta; Riemenschneider, Matthias; Heun, Reinhard; Brayne, Carol; Rubinsztein, David C; Bras, Jose; Guerreiro, Rita; Al-Chalabi, Ammar; Shaw, Christopher E; Collinge, John; Mann, David; Tsolaki, Magda; Clarimón, Jordi; Sussams, Rebecca; Lovestone, Simon; O'Donovan, Michael C; Owen, Michael J; Behrens, Timothy W; Mead, Simon; Goate, Alison M; Uitterlinden, Andre G; Holmes, Clive; Cruchaga, Carlos; Ingelsson, Martin; Bennett, David A; Powell, John; Golde, Todd E; Graff, Caroline; De Jager, Philip L; Morgan, Kevin; Ertekin-Taner, Nilufer; Combarros, Onofre; Psaty, Bruce M; Passmore, Peter; Younkin, Steven G; Berr, Claudine; Gudnason, Vilmundur; Rujescu, Dan; Dickson, Dennis W; Dartigues, Jean-François; DeStefano, Anita L; Ortega-Cubero, Sara; Hakonarson, Hakon; Campion, Dominique; Boada, Merce; Kauwe, John Keoni; Farrer, Lindsay A; Van Broeckhoven, Christine; Ikram, M Arfan; Jones, Lesley; Haines, Jonathan L; Tzourio, Christophe; Launer, Lenore J; Escott-Price, Valentina; Mayeux, Richard; Deleuze, Jean-François; Amin, Najaf; Holmans, Peter A; Pericak-Vance, Margaret A; Amouyel, Philippe; van Duijn, Cornelia M; Ramirez, Alfredo; Wang, Li-San; Lambert, Jean-Charles; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D

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Author

Sims, Rebecca

van der Lee, Sven J

Naj, Adam C

Bellenguez, Céline

Badarinarayan, Nandini

Jakobsdottir, Johanna

Kunkle, Brian W

Boland, Anne

Raybould, Rachel

Bis, Joshua C

Martin, Eden R

Grenier-Boley, Benjamin

Heilmann-Heimbach, Stefanie

Chouraki, Vincent

Kuzma, Amanda B

Sleegers, Kristel

Vronskaya, Maria

Ruiz, Agustin

Graham, Robert R

Olaso, Robert

Hoffmann, Per

Grove, Megan L

Vardarajan, Badri N

Hiltunen, Mikko

Nöthen, Markus M

White, Charles C

Hamilton-Nelson, Kara L

Epelbaum, Jacques

Maier, Wolfgang

Choi, Seung-Hoan

Beecham, Gary W

Dulary, Cécile

Herms, Stefan

Smith, Albert V

Funk, Cory C

Derbois, Céline

Forstner, Andreas J

Ahmad, Shahzad

Li, Hongdong

Bacq, Delphine

Harold, Denise

Satizabal, Claudia L

Valladares, Otto

Squassina, Alessio

Thomas, Rhodri

Brody, Jennifer A

Qu, Liming

Sánchez-Juan, Pascual

Morgan, Taniesha

Wolters, Frank J

Zhao, Yi

Garcia, Florentino Sanchez

Denning, Nicola

Fornage, Myriam

Malamon, John

Naranjo, Maria Candida Deniz

Majounie, Elisa

Mosley, Thomas H

Dombroski, Beth

Wallon, David

Lupton, Michelle K

Dupuis, Josée

Whitehead, Patrice

Fratiglioni, Laura

Medway, Christopher

Jian, Xueqiu

Mukherjee, Shubhabrata

Keller, Lina

Brown, Kristelle

Lin, Honghuang

Cantwell, Laura B

Panza, Francesco

McGuinness, Bernadette

Moreno-Grau, Sonia

Burgess, Jeremy D

Solfrizzi, Vincenzo

Proitsi, Petra

Adams, Hieab H

Allen, Mariet

Seripa, Davide

Pastor, Pau

Cupples, L Adrienne

Price, Nathan D

Hannequin, Didier

Frank-García, Ana

Levy, Daniel

Chakrabarty, Paramita

Caffarra, Paolo

Giegling, Ina

Beiser, Alexa S

Giedraitis, Vilmantas

Hampel, Harald

Garcia, Melissa E

Wang, Xue

Lannfelt, Lars

Mecocci, Patrizia

Eiriksdottir, Gudny

Crane, Paul K

Pasquier, Florence

Boccardi, Virginia

Henández, Isabel

Barber, Robert C

Scherer, Martin

Tarraga, Lluis

Adams, Perrie M

Leber, Markus

Chen, Yuning

Albert, Marilyn S

Riedel-Heller, Steffi

Emilsson, Valur

Beekly, Duane

Braae, Anne

Schmidt, Reinhold

Blacker, Deborah

Masullo, Carlo

Schmidt, Helena

Doody, Rachelle S

Spalletta, Gianfranco

Jr, W T Longstreth

Fairchild, Thomas J

Bossù, Paola

Lopez, Oscar L

Frosch, Matthew P

Sacchinelli, Eleonora

Ghetti, Bernardino

Yang, Qiong

Huebinger, Ryan M

Jessen, Frank

Li, Shuo

Kamboh, M Ilyas

Morris, John

Sotolongo-Grau, Oscar

Katz, Mindy J

Corcoran, Chris

Dunstan, Melanie

Braddel, Amy

Thomas, Charlene

Meggy, Alun

Marshall, Rachel

Gerrish, Amy

Chapman, Jade

Aguilar, Miquel

Taylor, Sarah

Hill, Matt

Fairén, Mònica Díez

Hodges, Angela

Vellas, Bruno

Soininen, Hilkka

Kloszewska, Iwona

Daniilidou, Makrina

Uphill, James

Patel, Yogen

Hughes, Joseph T

Lord, Jenny

Turton, James

Hartmann, Annette M

Cecchetti, Roberta

Fenoglio, Chiara

Serpente, Maria

Arcaro, Marina

Caltagirone, Carlo

Orfei, Maria Donata

Ciaramella, Antonio

Pichler, Sabrina

Mayhaus, Manuel

Gu, Wei

Lleó, Alberto

Fortea, Juan

Blesa, Rafael

Barber, Imelda S

Brookes, Keeley

Cupidi, Chiara

Maletta, Raffaele Giovanni

Carrell, David

Sorbi, Sandro

Moebus, Susanne

Urbano, Maria

Pilotto, Alberto

Kornhuber, Johannes

Bosco, Paolo

Todd, Stephen

Craig, David

Johnston, Janet

Gill, Michael

Lawlor, Brian

Lynch, Aoibhinn

Fox, Nick C

Hardy, John

Albin, Roger L

Apostolova, Liana G

Arnold, Steven E

Asthana, Sanjay

Atwood, Craig S

Baldwin, Clinton T

Barnes, Lisa L

Barral, Sandra

Beach, Thomas G

Becker, James T

Bigio, Eileen H

Bird, Thomas D

Boeve, Bradley F

Bowen, James D

Boxer, Adam

Burke, James R

Burns, Jeffrey M

Buxbaum, Joseph D

Cairns, Nigel J

Cao, Chuanhai

Carlson, Chris S

Carlsson, Cynthia M

Carney, Regina M

Carrasquillo, Minerva M

Carroll, Steven L

Diaz, Carolina Ceballos

Chui, Helena C

Clark, David G

Cribbs, David H

Crocco, Elizabeth A

DeCarli, Charles

Dick, Malcolm

Duara, Ranjan

Evans, Denis A

Faber, Kelley M

Fallon, Kenneth B

Fardo, David W

Farlow, Martin R

Ferris, Steven

Foroud, Tatiana M

Galasko, Douglas R

Gearing, Marla

Geschwind, Daniel H

Gilbert, John R

Graff-Radford, Neill R

Green, Robert C

Growdon, John H

Hamilton, Ronald L

Harrell, Lindy E

Honig, Lawrence S

Huentelman, Matthew J

Hulette, Christine M

Hyman, Bradley T

Jarvik, Gail P

Abner, Erin

Jin, Lee-Way

Jun, Gyungah

Karydas, Anna

Kaye, Jeffrey A

Kim, Ronald

Kowall, Neil W

Kramer, Joel H

LaFerla, Frank M

Lah, James J

Leverenz, James B

Levey, Allan I

Li, Ge

Lieberman, Andrew P

Lunetta, Kathryn L

Lyketsos, Constantine G

Marson, Daniel C

Martiniuk, Frank

Mash, Deborah C

Masliah, Eliezer

McCormick, Wayne C

McCurry, Susan M

McDavid, Andrew N

McKee, Ann C

Mesulam, Marsel

Miller, Bruce L

Miller, Carol A

Miller, Joshua W

Morris, John C

Murrell, Jill R

Myers, Amanda J

O'Bryant, Sid

Olichney, John M

Pankratz, Vernon S

Parisi, Joseph E

Paulson, Henry L

Perry, William

Peskind, Elaine

Pierce, Aimee

Poon, Wayne W

Potter, Huntington

Quinn, Joseph F

Raj, Ashok

Raskind, Murray

Reisberg, Barry

Reitz, Christiane

Ringman, John M

Roberson, Erik D

Rogaeva, Ekaterina

Rosen, Howard J

Rosenberg, Roger N

Sager, Mark A

Saykin, Andrew J

Schneider, Julie A

Schneider, Lon S

Seeley, William W

Smith, Amanda G

Sonnen, Joshua A

Spina, Salvatore

Stern, Robert A

Swerdlow, Russell H

Tanzi, Rudolph E

Thornton-Wells, Tricia A

Trojanowski, John Q

Troncoso, Juan C

Van Deerlin, Vivianna M

Van Eldik, Linda J

Vinters, Harry V

Vonsattel, Jean Paul

Weintraub, Sandra

Welsh-Bohmer, Kathleen A

Wilhelmsen, Kirk C

Williamson, Jennifer

Wingo, Thomas S

Woltjer, Randall L

Wright, Clinton B

Yu, Chang-En

Yu, Lei

Garzia, Fabienne

Golamaully, Feroze

Septier, Gislain

Engelborghs, Sebastien

Vandenberghe, Rik

De Deyn, Peter P

Fernadez, Carmen Muñoz

Benito, Yoland Aladro

Thonberg, Hakan

Forsell, Charlotte

Lilius, Lena

Kinhult-Stählbom, Anne

Kilander, Lena

Brundin, RoseMarie

Concari, Letizia

Helisalmi, Seppo

Koivisto, Anne Maria

Haapasalo, Annakaisa

Dermecourt, Vincent

Fievet, Nathalie

Hanon, Olivier

Dufouil, Carole

Brice, Alexis

Ritchie, Karen

Dubois, Bruno

Himali, Jayanadra J

Keene, C Dirk

Tschanz, JoAnn

Fitzpatrick, Annette L

Kukull, Walter A

Norton, Maria

Aspelund, Thor

Larson, Eric B

Munger, Ron

Rotter, Jerome I

Lipton, Richard B

Bullido, María J

Hofman, Albert

Montine, Thomas J

Coto, Eliecer

Boerwinkle, Eric

Petersen, Ronald C

Alvarez, Victoria

Rivadeneira, Fernando

Reiman, Eric M

Gallo, Maura

O'Donnell, Christopher J

Reisch, Joan S

Bruni, Amalia Cecilia

Royall, Donald R

Dichgans, Martin

Sano, Mary

Galimberti, Daniela

St George-Hyslop, Peter

Scarpini, Elio

Tsuang, Debby W

Mancuso, Michelangelo

Bonuccelli, Ubaldo

Winslow, Ashley R

Daniele, Antonio

Wu, Chuang-Kuo

Peters, Oliver

Nacmias, Benedetta

Riemenschneider, Matthias

Heun, Reinhard

Brayne, Carol

Rubinsztein, David C

Bras, Jose

Guerreiro, Rita

Al-Chalabi, Ammar

Shaw, Christopher E

Collinge, John

Mann, David

Tsolaki, Magda

Clarimón, Jordi

Sussams, Rebecca

Lovestone, Simon

O'Donovan, Michael C

Owen, Michael J

Behrens, Timothy W

Mead, Simon

Goate, Alison M

Uitterlinden, Andre G

Holmes, Clive

Cruchaga, Carlos

Ingelsson, Martin

Bennett, David A

Powell, John

Golde, Todd E

Graff, Caroline

De Jager, Philip L

Morgan, Kevin

Ertekin-Taner, Nilufer

Combarros, Onofre

Psaty, Bruce M

Passmore, Peter

Younkin, Steven G

Berr, Claudine

Gudnason, Vilmundur

Rujescu, Dan

Dickson, Dennis W

Dartigues, Jean-François

DeStefano, Anita L

Ortega-Cubero, Sara

Hakonarson, Hakon

Campion, Dominique

Boada, Merce

Kauwe, John Keoni

Farrer, Lindsay A

Van Broeckhoven, Christine

Ikram, M Arfan

Jones, Lesley

Haines, Jonathan L

Tzourio, Christophe

Launer, Lenore J

Escott-Price, Valentina

Mayeux, Richard

Deleuze, Jean-François

Amin, Najaf

Holmans, Peter A

Pericak-Vance, Margaret A

Amouyel, Philippe

van Duijn, Cornelia M

Ramirez, Alfredo

Wang, Li-San

Lambert, Jean-Charles

Seshadri, Sudha

Williams, Julie

Schellenberg, Gerard D

Published Version

https://doi.org/10.1038/ng.3916

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Citation

Sims, Rebecca, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle et al. "Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease." Nature Genetics 49, no. 9 (2017): 1373-1384. DOI: 10.1038/ng.3916

Citable link to this page

https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37373154

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