- Van Deerlin, Vivianna M;
- Sleiman, Patrick MA;
- Martinez-Lage, Maria;
- Chen-Plotkin, Alice;
- Wang, Li-San;
- Graff-Radford, Neill R;
- Dickson, Dennis W;
- Rademakers, Rosa;
- Boeve, Bradley F;
- Grossman, Murray;
- Arnold, Steven E;
- Mann, David MA;
- Pickering-Brown, Stuart M;
- Seelaar, Harro;
- Heutink, Peter;
- van Swieten, John C;
- Murrell, Jill R;
- Ghetti, Bernardino;
- Spina, Salvatore;
- Grafman, Jordan;
- Hodges, John;
- Spillantini, Maria Grazia;
- Gilman, Sid;
- Lieberman, Andrew P;
- Kaye, Jeffrey A;
- Woltjer, Randall L;
- Bigio, Eileen H;
- Mesulam, Marsel;
- al-Sarraj, Safa;
- Troakes, Claire;
- Rosenberg, Roger N;
- White, Charles L;
- Ferrer, Isidro;
- Lladó, Albert;
- Neumann, Manuela;
- Kretzschmar, Hans A;
- Hulette, Christine Marie;
- Welsh-Bohmer, Kathleen A;
- Miller, Bruce L;
- Alzualde, Ainhoa;
- de Munain, Adolfo Lopez;
- McKee, Ann C;
- Gearing, Marla;
- Levey, Allan I;
- Lah, James J;
- Hardy, John;
- Rohrer, Jonathan D;
- Lashley, Tammaryn;
- Mackenzie, Ian RA;
- Feldman, Howard H;
- Hamilton, Ronald L;
- Dekosky, Steven T;
- van der Zee, Julie;
- Kumar-Singh, Samir;
- Van Broeckhoven, Christine;
- Mayeux, Richard;
- Vonsattel, Jean Paul G;
- Troncoso, Juan C;
- Kril, Jillian J;
- Kwok, John BJ;
- Halliday, Glenda M;
- Bird, Thomas D;
- Ince, Paul G;
- Shaw, Pamela J;
- Cairns, Nigel J;
- Morris, John C;
- McLean, Catriona Ann;
- DeCarli, Charles;
- Ellis, William G;
- Freeman, Stefanie H;
- Frosch, Matthew P;
- Growdon, John H;
- Perl, Daniel P;
- Sano, Mary;
- Bennett, David A;
- Schneider, Julie A;
- Beach, Thomas G;
- Reiman, Eric M;
- Woodruff, Bryan K;
- Cummings, Jeffrey;
- Vinters, Harry V;
- Miller, Carol A;
- Chui, Helena C;
- Alafuzoff, Irina;
- Hartikainen, Päivi;
- Seilhean, Danielle;
- Galasko, Douglas;
- Masliah, Eliezer;
- Cotman, Carl W;
- Tuñón, M Teresa;
- Martínez, M Cristina Caballero;
- Munoz, David G;
- Carroll, Steven L;
- Marson, Daniel;
- Riederer, Peter F;
- Bogdanovic, Nenad;
- Schellenberg, Gerard D;
- Hakonarson, Hakon;
- Trojanowski, John Q;
- Lee, Virginia M-Y
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 x 10(-11); odds ratio, minor allele (C) 0.61, 95% CI 0.53-0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism.