{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Xicota L"],"funding":["National Center for Advancing Translational Sciences","Columbia University","NICHD NIH HHS","NCATS NIH HHS","NIA NIH HHS","University of Pennsylvania","National Institutes of Health","National Association for Colitis and Crohn&apos;s Disease","NIH HHS","National Institute on Aging"],"pagination":["2670-2679"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11032545"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["20(4)"],"pubmed_abstract":["<h4>Introduction</h4>Late-onset Alzheimer's disease (LOAD) has a strong genetic component. Participants in Long-Life Family Study (LLFS) exhibit delayed onset of dementia, offering a unique opportunity to investigate LOAD genetics.<h4>Methods</h4>We conducted a whole genome sequence analysis of 3475 LLFS members. Genetic associations were examined in six independent studies (N = 14,260) with a wide range of LOAD risk. Association analysis in a sub-sample of the LLFS cohort (N = 1739) evaluated the association of LOAD variants with beta amyloid (Aβ) levels.<h4>Results</h4>We identified several single nucleotide polymorphisms (SNPs) in tight linkage disequilibrium within the MTUS2 gene associated with LOAD (rs73154407, p = 7.6 × 10<sup>-9</sup>). Association of MTUS2 variants with LOAD was o"],"journal":["Alzheimer's & dementia : the journal of the Alzheimer's Association"],"pubmed_title":["Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease."],"pmcid":["PMC11032545"],"funding_grant_id":["UL1 TR002373","RF1 AG022018","U24 AG026395","P30 AG062677","P30 AG066514","P30 AG066515","R37 AG015473","R01 AG072474","P30 AG066518","P30 AG066519","P30 AG062715","P20 AG068053","U01 AG051412","U01 AG023744","P30 AG066444","U01 AG023749","U01 AG023746","P30 AG072958","P30 AG072959","U54 AG052427","ADGC","P50 AG008702","UL1 TR002345","P30 AG062421","P30 AG062422","UL1TR001873","P30 AG010161","P30 AG066546","UL1 TR001414","P30 AG066506","P30 AG066507","P30 AG062429","R01 AG037212","UL1 TR001857","P30 AG066508","P30 AG066509","U01 AG023755","U01 AG051406","U24‐AG041689","U01 AG023712","P30 AG066511","P30 AG066512","U24 AG072122","U01 AG032984","U24 AG041689","P20 AG068024","R01 AG028786","P30 AG072946","P30 AG072947","R01 AG015819","R01AG041797","U19 AG063893","R01 AG026390","U54 HD087011","P01 AG019724","P50 AG005681","U24 AG021886","P30 AG072931","P30 AG066462","P30 AG072975","P20 AG068077","P30 AG072976","P30 AG072977","R01 AG041797","P30 AG072972","P30 AG066468","P30 AG072973","P30 AG072978","P30 AG072979","R01 AG079280","UL1 TR001873","U01 AG016976","P50 HD105353","U19 AG068054","P50 AG005133","U24AG026395","RC2 AG036528","P30 AG066530","P20 AG068082","U54 HD090256","U24 AG056270","R01 AG017917","RF1 AG066107"],"pubmed_authors":["Tilson J","Griswold AR","Hall JR","O'Bryant S","Kauwe JSK","Rosas HD","Ayres G","Carrasquillo MM","Lunetta KL","Cuccaro ML","Williams B","Rosen HJ","McKee AC","Bowen JD","DeCarli C","Shibata DK","Honig L","Reiman E","Jin LW","Fernandez-Hernandez V","Larson EB","Keator D","Silverman WP","Lerner AJ","Price JC","Hall K","Rogaeva E","Rosenberg RN","Benchek P","Alzheimer's Disease Genetic Consortium (ADGC)","Gauthreaux KM","Stern RA","Nudelman K","Duara R","Kramer JH","Younkin SG","Sano M","Schneider JA","Aguirre A","Boxer A","Lah JJ","Mooney SD","Pulsifer M","Brewer JB","Galasko DR","Seeley WW","Mathis CA","Rizvi B","Yu L","Bartlett J","Van Deerlin VM","Ramanan V","Cao C","Gamboa A","Smith AG","Jones B","Zhao Y","Krinsky-McHale S","Katz MJ","Reisch JS","Tsuang DW","Jarvik GP","Polk M","Boeve BF","Asthana S","Weintraub S","Albert MS","Craft S","Krinsky-McHale SJ","Cantwell LB","Monuki E","Rafii MS","Tumuluru R","Barber RC","Burns JM","Chung J","Kunkle BW","Zhu C","Bush WS","Hartley SL","Mesulam M","Lupson V","Yassa MA","Wijsman E","Beach TG","Chasse S","Woltjer RL","Keene CD","Huentelman MJ","Apostolova LG","Hynan L","Klunk WE","Zaman S","Kowall NW","Schupf N","Kuzma AP","Khaleeq A","Trojanowski JQ","Reitz C","Swerdlow RH","Nadkarni N","Clare I","Cranney M","Kukull WA","Varadarajan B","Evans DA","Darby E","Henson R","Wilms H","Chin NA","Marquez D","Tosto G","Davis B","Kang MI","Ringman JM","Sherva RM","LaFerla FM","Reiman EM","Lee JH","Mapstone M","Noble J","Chen K","Crane PK","Wang LS","Feingold E","Vance JM","Paydarfar D","Chesselet MF","Tudorascu DL","Becker JT","Carlsson CM","Ormsby K","Petersen RC","Vassar R","Ikonomovic MD","Abner E","Beecham GW","Hakonarson H","Lyketsos CG","Fardo DW","Barral S","Head E","Van Eldik LJ","Fallon KB","Petersen M","Mapstone ME","Culhane J","Miller BL","Johnson K","Johnson L","Ryan L","Jordan C","Kaye JA","Lai F","Pavlik V","Massman P","Ances BM","Paulson HL","Buxbaum JD","Knebl J","Moghekar A","McCurry SM","Miller CA","Honig LS","Cosentino S","Ibanez L","Goate AM","De Jager PL","Saykin AJ","Mock C","Hom C","Faber KM","Teich A","Alvarez L","Hernandez M","Perez V","Bell K","Harrell LE","Quinn JF","Kofler JK","Stevens A","Andersen SL","Lipton RB","Welsh-Bohmer KA","Chui HC","Hyman BT","Gilbert JR","Mez J","Xicota L","Zmuda JM","Zhang F","Huebinger RM","Lieberman AP","Chen YC","Martin ER","Doran EW","Harari O","Schellenberg GD","Ory M","Spina S","Pericak-Vance MA","Rajabli F","Valladares O","Blacker D","Karydas A","Handen BL","Fallin D","Masliah E","Vardarajan BN","Pang D","Royall DR","Christian BT","Mark L","Ghetti B","Parisi M","Hulette CM","Burke JR","Wilhelmsen KC","Adams PM","Cruchaga C","Atwood CS","Hamilton-Nelson KL","Keller B","White DA","Mukherjee S","Wojczynski MK","Perls TT","Vardarajan B","Cullum CM","Quiceno M","Henderson V","Lee J","Han X","Naj AC","Roberson ED","Andrews H","Johnson SC","Lott IT","Qu L","Constantino JN","Wheeler N","McDonough S","Foroud TM","Minhas DS","DeToledo JC","Bertelson J","Rodriguear M","Zhou X","Marson DC","Kim R","Thyagarajan B","Kamboh MI","Bennett DA","Arnold SE","Small S","Lao P","Allen M","Hamilton RL","Dobbins N","Andrews HF","Albin RL","Van Dyck C","Dickson DW","Woon M","Fairchild TJ","Jun G","Chan KC","Farlow MR","Brickman AM","Vinters HV","Cheema A","Lopez OL","Graff-Radford NR","Wisniewski T","Myers AJ","George-Hyslop PS","Farrer LA","Birn RM","McCormick WC","Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS)","Grabowski T","Mains D","Fagan A","Yashin A","Byrd G","Bulova P","Strittmatter S","Manly J","Long‐Life Family Study (LLFS)","Ertekin-Taner N","Barnes LL","Hardy J","Gefen T","Farrell J","Haines JL","Parisi JE","Sultzer D","Troncoso JC","Leverenz JB","Aizenstein HJ","Biber SA","Frosch MP","Geschwind DH","Williamson J","Song Y","Mayeux R","Cohen AD","Lerch M","Palmer R","Schneider LS","Levey AI","Nguyen T","Harp J","Jayadev S","Bird TD","Raj A","Morris JC","Smith J","Laymon C","Schmitt F","Wingo TS","O'Bryant SE","Leung YY","Masurkar AV","Montine TJ"],"additional_accession":[]},"is_claimable":false,"name":"Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.","description":"<h4>Introduction</h4>Late-onset Alzheimer's disease (LOAD) has a strong genetic component. Participants in Long-Life Family Study (LLFS) exhibit delayed onset of dementia, offering a unique opportunity to investigate LOAD genetics.<h4>Methods</h4>We conducted a whole genome sequence analysis of 3475 LLFS members. Genetic associations were examined in six independent studies (N = 14,260) with a wide range of LOAD risk. Association analysis in a sub-sample of the LLFS cohort (N = 1739) evaluated the association of LOAD variants with beta amyloid (Aβ) levels.<h4>Results</h4>We identified several single nucleotide polymorphisms (SNPs) in tight linkage disequilibrium within the MTUS2 gene associated with LOAD (rs73154407, p = 7.6 × 10<sup>-9</sup>). Association of MTUS2 variants with LOAD was o","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-06-02T11:24:30.023Z","creation":"2026-05-27T03:07:26.734Z"},"accession":"S-EPMC11032545","cross_references":{"pubmed":["38380866"],"doi":["10.1002/alz.13718"]}}