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

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MARC

Fältnamn	Indikatorer	Metadata
000		07155naa a2201597 4500
001		oai:DiVA.org:uu-120759
003		SwePub
008		100316s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:120091521
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1207592 URI
024	7	a https://doi.org/10.1038/ng.5362 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1200915212 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Van Deerlin, Vivian M4 aut
245	1 0	a Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
264		c 2010-02-14
264	1	b Springer Science and Business Media LLC,c 2010
338		a print2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a Pathology
653		a Patologi
653		a Molecular medicine (genetics and pathology)
653		a Molekylär medicin (genetik och patologi)
700	1	a Sleiman, Patrick M. A.4 aut
700	1	a Martinez-Lage, Maria4 aut
700	1	a Chen-Plotkin, Alice4 aut
700	1	a Wang, Li-San4 aut
700	1	a Graff-Radford, Neill R.4 aut
700	1	a Dickson, Dennis W.4 aut
700	1	a Rademakers, Rosa4 aut
700	1	a Boeve, Bradley F.4 aut
700	1	a Grossman, Murray4 aut
700	1	a Arnold, Steven E.4 aut
700	1	a Mann, David M. A.4 aut
700	1	a Pickering-Brown, Stuart M.4 aut
700	1	a Seelaar, Harro4 aut
700	1	a Heutink, Peter4 aut
700	1	a van Swieten, John C.4 aut
700	1	a Murrell, Jill R.4 aut
700	1	a Ghetti, Bernardino4 aut
700	1	a Spina, Salvatore4 aut
700	1	a Grafman, Jordan4 aut
700	1	a Hodges, John4 aut
700	1	a Spillantini, Maria Grazia4 aut
700	1	a Gilman, Sid4 aut
700	1	a Lieberman, Andrew P.4 aut
700	1	a Kaye, Jeffrey A.4 aut
700	1	a Woltjer, Randall L.4 aut
700	1	a Bigio, Eileen H.4 aut
700	1	a Mesulam, Marsel4 aut
700	1	a Al-Sarraj, Safa4 aut
700	1	a Troakes, Claire4 aut
700	1	a Rosenberg, Roger N.4 aut
700	1	a White, Charles L.4 aut
700	1	a Ferrer, Isidro4 aut
700	1	a Lladó, Albert4 aut
700	1	a Neumann, Manuela4 aut
700	1	a Kretzschmar, Hans A.4 aut
700	1	a Hulette, Christine Marie4 aut
700	1	a Welsh-Bohmer, Kathleen A.4 aut
700	1	a Miller, Bruce L.4 aut
700	1	a Alzualde, Ainhoa4 aut
700	1	a de Munain, Adolfo Lopez4 aut
700	1	a McKee, Ann C.4 aut
700	1	a Gearing, Marla4 aut
700	1	a Levey, Allan I.4 aut
700	1	a Lah, James J.4 aut
700	1	a Hardy, John4 aut
700	1	a Rohrer, Jonathan D.4 aut
700	1	a Lashley, Tammaryn4 aut
700	1	a Mackenzie, Ian R. A.4 aut
700	1	a Feldman, Howard H.4 aut
700	1	a Hamilton, Ronald L.4 aut
700	1	a Dekosky, Steven T.4 aut
700	1	a van der Zee, Julie4 aut
700	1	a Kumar-Singh, Samir4 aut
700	1	a Van Broeckhoven, Christine4 aut
700	1	a Mayeux, Richard4 aut
700	1	a Vonsattel, Jean Paul G.4 aut
700	1	a Troncoso, Juan C.4 aut
700	1	a Kril, Jillian J.4 aut
700	1	a Kwok, John B. J.4 aut
700	1	a Halliday, Glenda M.4 aut
700	1	a Bird, Thomas D.4 aut
700	1	a Ince, Paul G.4 aut
700	1	a Shaw, Pamela J.4 aut
700	1	a Cairns, Nigel J.4 aut
700	1	a Morris, John C.4 aut
700	1	a McLean, Catriona Ann4 aut
700	1	a DeCarli, Charles4 aut
700	1	a Ellis, William G.4 aut
700	1	a Freeman, Stefanie H.4 aut
700	1	a Frosch, Matthew P.4 aut
700	1	a Growdon, John H.4 aut
700	1	a Perl, Daniel P.4 aut
700	1	a Sano, Mary4 aut
700	1	a Bennett, David A.4 aut
700	1	a Schneider, Julie A.4 aut
700	1	a Beach, Thomas G.4 aut
700	1	a Reiman, Eric M.4 aut
700	1	a Woodruff, Bryan K.4 aut
700	1	a Cummings, Jeffrey4 aut
700	1	a Vinters, Harry V.4 aut
700	1	a Miller, Carol A.4 aut
700	1	a Chui, Helena C.4 aut
700	1	a Alafuzoff, Irinau Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)irial548
700	1	a Hartikainen, Päivi4 aut
700	1	a Seilhean, Danielle4 aut
700	1	a Galasko, Douglas4 aut
700	1	a Masliah, Eliezer4 aut
700	1	a Cotman, Carl W.4 aut
700	1	a Tuñón, M. Teresa4 aut
700	1	a Martínez, M. Cristina Caballero4 aut
700	1	a Munoz, David G.4 aut
700	1	a Carroll, Steven L.4 aut
700	1	a Marson, Daniel4 aut
700	1	a Riederer, Peter F.4 aut
700	1	a Bogdanovic, Nenadu Karolinska Institutet4 aut
700	1	a Schellenberg, Gerard D.4 aut
700	1	a Hakonarson, Hakon4 aut
700	1	a Trojanowski, John Q.4 aut
700	1	a Lee, Virginia M-Y.4 aut
710	2	a Uppsala universitetb Institutionen för genetik och patologi4 org
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 42:3, s. 234-239q 42:3<234-239x 1061-4036x 1546-1718
856	4	u https://europepmc.org/articles/pmc2828525?pdf=render
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-120759
856	4 8	u https://doi.org/10.1038/ng.536
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:120091521

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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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