Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

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Van Deerlin, Vivian M (author)

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Article/chapterEnglish2010

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2010-02-14
Springer Science and Business Media LLC,2010
printrdacarrier

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LIBRIS-ID:oai:DiVA.org:uu-120759
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-120759URI
https://doi.org/10.1038/ng.536DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:120091521URI

Supplementary language notes

Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Cell- och molekylärbiologi hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Cell and Molecular Biology hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
Pathology
Patologi
Molecular medicine (genetics and pathology)
Molekylär medicin (genetik och patologi)

Added entries (persons, corporate bodies, meetings, titles ...)

Sleiman, Patrick M. A. (author)
Martinez-Lage, Maria (author)
Chen-Plotkin, Alice (author)
Wang, Li-San (author)
Graff-Radford, Neill R. (author)
Dickson, Dennis W. (author)
Rademakers, Rosa (author)
Boeve, Bradley F. (author)
Grossman, Murray (author)
Arnold, Steven E. (author)
Mann, David M. A. (author)
Pickering-Brown, Stuart M. (author)
Seelaar, Harro (author)
Heutink, Peter (author)
van Swieten, John C. (author)
Murrell, Jill R. (author)
Ghetti, Bernardino (author)
Spina, Salvatore (author)
Grafman, Jordan (author)
Hodges, John (author)
Spillantini, Maria Grazia (author)
Gilman, Sid (author)
Lieberman, Andrew P. (author)
Kaye, Jeffrey A. (author)
Woltjer, Randall L. (author)
Bigio, Eileen H. (author)
Mesulam, Marsel (author)
Al-Sarraj, Safa (author)
Troakes, Claire (author)
Rosenberg, Roger N. (author)
White, Charles L. (author)
Ferrer, Isidro (author)
Lladó, Albert (author)
Neumann, Manuela (author)
Kretzschmar, Hans A. (author)
Hulette, Christine Marie (author)
Welsh-Bohmer, Kathleen A. (author)
Miller, Bruce L. (author)
Alzualde, Ainhoa (author)
de Munain, Adolfo Lopez (author)
McKee, Ann C. (author)
Gearing, Marla (author)
Levey, Allan I. (author)
Lah, James J. (author)
Hardy, John (author)
Rohrer, Jonathan D. (author)
Lashley, Tammaryn (author)
Mackenzie, Ian R. A. (author)
Feldman, Howard H. (author)
Hamilton, Ronald L. (author)
Dekosky, Steven T. (author)
van der Zee, Julie (author)
Kumar-Singh, Samir (author)
Van Broeckhoven, Christine (author)
Mayeux, Richard (author)
Vonsattel, Jean Paul G. (author)
Troncoso, Juan C. (author)
Kril, Jillian J. (author)
Kwok, John B. J. (author)
Halliday, Glenda M. (author)
Bird, Thomas D. (author)
Ince, Paul G. (author)
Shaw, Pamela J. (author)
Cairns, Nigel J. (author)
Morris, John C. (author)
McLean, Catriona Ann (author)
DeCarli, Charles (author)
Ellis, William G. (author)
Freeman, Stefanie H. (author)
Frosch, Matthew P. (author)
Growdon, John H. (author)
Perl, Daniel P. (author)
Sano, Mary (author)
Bennett, David A. (author)
Schneider, Julie A. (author)
Beach, Thomas G. (author)
Reiman, Eric M. (author)
Woodruff, Bryan K. (author)
Cummings, Jeffrey (author)
Vinters, Harry V. (author)
Miller, Carol A. (author)
Chui, Helena C. (author)
Alafuzoff, IrinaUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)irial548 (author)
Hartikainen, Päivi (author)
Seilhean, Danielle (author)
Galasko, Douglas (author)
Masliah, Eliezer (author)
Cotman, Carl W. (author)
Tuñón, M. Teresa (author)
Martínez, M. Cristina Caballero (author)
Munoz, David G. (author)
Carroll, Steven L. (author)
Marson, Daniel (author)
Riederer, Peter F. (author)
Bogdanovic, NenadKarolinska Institutet (author)
Schellenberg, Gerard D. (author)
Hakonarson, Hakon (author)
Trojanowski, John Q. (author)
Lee, Virginia M-Y. (author)
Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC42:3, s. 234-2391061-40361546-1718

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By the author/editor: Van Deerlin, Viv ...; Sleiman, Patrick ...; Martinez-Lage, M ...; Chen-Plotkin, Al ...; Wang, Li-San; Graff-Radford, N ...; show more...; Dickson, Dennis ...; Rademakers, Rosa; Boeve, Bradley F ...; Grossman, Murray; Arnold, Steven E ...; Mann, David M. A ...; Pickering-Brown, ...; Seelaar, Harro; Heutink, Peter; van Swieten, Joh ...; Murrell, Jill R.; Ghetti, Bernardi ...; Spina, Salvatore; Grafman, Jordan; Hodges, John; Spillantini, Mar ...; Gilman, Sid; Lieberman, Andre ...; Kaye, Jeffrey A.; Woltjer, Randall ...; Bigio, Eileen H.; Mesulam, Marsel; Al-Sarraj, Safa; Troakes, Claire; Rosenberg, Roger ...; White, Charles L ...; Ferrer, Isidro; Lladó, Albert; Neumann, Manuela; Kretzschmar, Han ...; Hulette, Christi ...; Welsh-Bohmer, Ka ...; Miller, Bruce L.; Alzualde, Ainhoa; de Munain, Adolf ...; McKee, Ann C.; Gearing, Marla; Levey, Allan I.; Lah, James J.; Hardy, John; Rohrer, Jonathan ...; Lashley, Tammary ...; Mackenzie, Ian R ...; Feldman, Howard ...; Hamilton, Ronald ...; Dekosky, Steven ...; van der Zee, Jul ...; Kumar-Singh, Sam ...; Van Broeckhoven, ...; Mayeux, Richard; Vonsattel, Jean ...; Troncoso, Juan C ...; Kril, Jillian J.; Kwok, John B. J.; Halliday, Glenda ...; Bird, Thomas D.; Ince, Paul G.; Shaw, Pamela J.; Cairns, Nigel J.; Morris, John C.; McLean, Catriona ...; DeCarli, Charles; Ellis, William G ...; Freeman, Stefani ...; Frosch, Matthew ...; Growdon, John H.; Perl, Daniel P.; Sano, Mary; Bennett, David A ...; Schneider, Julie ...; Beach, Thomas G.; Reiman, Eric M.; Woodruff, Bryan ...; Cummings, Jeffre ...; Vinters, Harry V ...; Miller, Carol A.; Chui, Helena C.; Alafuzoff, Irina; Hartikainen, Päi ...; Seilhean, Daniel ...; Galasko, Douglas; Masliah, Eliezer; Cotman, Carl W.; Tuñón, M. Teresa; Martínez, M. Cri ...; Munoz, David G.; Carroll, Steven ...; Marson, Daniel; Riederer, Peter ...; Bogdanovic, Nena ...; Schellenberg, Ge ...; Hakonarson, Hako ...; Trojanowski, Joh ...; Lee, Virginia M- ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Cell and Molecul ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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