{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Shade LMP"],"funding":["NIA NIH HHS","Funding sources listed in the acknowledgments","U.S. Department of Health & Human Services | NIH | National Institute on Aging","U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging)","NINDS NIH HHS","NLM NIH HHS","NIGMS NIH HHS"],"pagination":["2407-2421"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11549054"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["56(11)"],"pubmed_abstract":["Genome-wide association studies (GWAS) have identified >80 Alzheimer's disease and related dementias (ADRD)-associated genetic loci. However, the clinical outcomes used in most previous studies belie the complex nature of underlying neuropathologies. Here we performed GWAS on 11 ADRD-related neuropathology endophenotypes with participants drawn from the following three sources: the National Alzheimer's Coordinating Center, the Religious Orders Study and Rush Memory and Aging Project, and the Adult Changes in Thought study (n = 7,804 total autopsied participants). We identified eight independent significantly associated loci, of which four were new (COL4A1, PIK3R5, LZTS1 and APOC2). Separately testing known ADRD loci, 19 loci were significantly associated with at least one neuropathology af"],"journal":["Nature genetics"],"pubmed_title":["GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia."],"pmcid":["PMC11549054"],"funding_grant_id":["P30 AG053760","P50 AG005146","U19 AG024904","P50 AG005142","P30 AG066518","F30 NS124136","P50 AG047266","P30 AG019610","R56 AG057191","P30 AG066444","R01 AG068331","R01 NS078009","R01 AG022018","RF1 NS118584","RF1AG082339","P50 AG008702","P30 AG010124","P30 AG012300","P50 AG047270","R35 GM138636","P30 AG010161","R01 AG056352","P30 AG066509","U19 AG074879","P30 AG049638","R01 AG036042","K25 AG055620","U24 AG072122","U01 AG032984","U24 AG041689","R01 AG082730","P30 AG072946","P30 AG072947","R01 AG015819","U01 AG061356","U01 NS100599","P30 AG028383","P30 AG013846","P30 AG008017","U19 AG066567","P30 AG010133","P50 AG033514","UH2 NS100599","R01 AG034374","P50 AG005681","P30 AG072980","U01 AG006781","P50 AG047366","U24 AG021886","R01 AG043379","P30 AG066462","P30 AG072975","U01 AG072177","P30 AG072976","R01 AG047976","U01 AG046152","P50 AG023501","P30 AG008051","P30 AG010129","P30 AG013854","P50 AG005138","R01 AG033678","P50 AG005134","R01 LM012535","P50 AG005136","U01 AG016976","P50 AG025688","P30 AG035982","P01 AG078116","P50 AG005131","P50 AG005133","U01 AG068057","RF1 AG082339","RC2 AG036528","RF1 AG054057","P50 AG016574","R01 AG040039","P50 AG016573","U01 AG058654","R01 AG017917","R01 AG061111","R01 AG042210"],"pubmed_authors":["Peskind E","Tilson J","Hall JR","Kauwe JSK","Ayres G","Carrasquillo MM","Lunetta KL","Cuccaro ML","Williams B","Brewer J","Rosen HJ","Carney RM","McKee AC","Paulson H","Rosenberg R","Bowen JD","DeCarli C","Shibata DK","Reiman E","Jin LW","Larson EB","Lerner AJ","Rogaeva E","Rosenberg RN","Stern RA","Duara R","Kramer JH","Younkin SG","Sano M","Levey A","Schneider JA","Boxer A","Aguirre A","Lah JJ","Galasko DR","Brewer JB","Seeley WW","Potter H","Yu L","Van Deerlin VM","Cao C","Smith AG","Gamboa A","Lopez O","Zhao Y","Katz MJ","Tsuang DW","Reisch JS","Tanzi RE","Jarvik GP","Polk M","Boeve BF","Asthana S","Growdon JH","Miller B","Weintraub S","Albert MS","Craft S","Cantwell LB","Monuki E","Heberle BA","Burns JM","Barber RC","Kunkle BW","Malamon J","Bush WS","Ebbert MTW","Mesulam M","Miller Z","Woltjer RL","Beach TG","Chasse S","Keene CD","Huentelman MJ","Apostolova LG","Hynan L","Kowall NW","Kuzma AP","Khaleeq A","Trojanowski JQ","Swerdlow RH","Reitz C","Kukull WA","Evans DA","Darby E","Wilms H","Kowall N","Chin NA","Yasuda S","Green RC","Davis B","Ringman JM","LaFerla FM","Reiman EM","Li G","Crane PK","Wang LS","Vance JM","Paydarfar D","Chesselet MF","Becker JT","Carlsson CM","Ormsby K","Hohman TJ","Petersen RC","Vassar R","Abner E","Beecham GW","Hakonarson H","Lyketsos CG","Fardo DW","Barral S","Nho K","Head E","Van Eldik LJ","Fallon KB","Culhane J","Miller BL","Johnson K","Johnson L","Bigio EH","Kaye JA","Pavlik V","Vonsattel JP","Massman P","Cullum M","Paulson HL","Buxbaum JD","Knebl J","Swerdlow R","McCurry SM","Miller CA","Honig LS","Morris J","Baldwin CT","Goate AM","Yu CE","De Jager PL","Saykin AJ","National Alzheimer’s Coordinating Center","Mock C","Faber KM","Bennett D","Biber S","Alvarez L","Hernandez M","Perez V","Van Eldik L","Albert M","Quinn JF","Harrell LE","Stevens A","Welsh-Bohmer KA","Lipton RB","Chui HC","Hyman BT","Oswald S","Petersen R","Gilbert JR","Lieberman AP","Huebinger RM","Hyman B","Chen YC","Martin ER","Abner EL","Sager MA","Schellenberg GD","Spina S","Ory M","Pericak-Vance MA","Valladares O","Blacker D","Karydas A","Vardarajan BN","Royall DR","Claas SA","Kaye J","Gauthreaux K","Ghetti B","Hulette CM","Burke JR","Wilhelmsen KC","Adams PM","Cruchaga C","Atwood CS","Hamilton-Nelson KL","Mukherjee S","Qiao Q","Aung KZ","Cairns NJ","Quiceno M","Henderson V","Naj AC","Roberson ED","Qu L","Nelson PT","Chan KCG","Stephens KA","Katsumata Y","Foroud TM","Sonnen JA","DeToledo JC","Bertelson J","Rodriguear M","Zhou X","LaFerla F","Marson DC","Kim R","Bennett DA","Kamboh MI","Small S","Arnold SE","Shade LMP","Allen M","Hamilton RL","Albin RL","Dickson DW","Woon M","Fairchild TJ","Jun G","Farlow MR","Chui H","Vinters HV","Lopez OL","Brandon JA","Olichney JM","Wisniewski T","Graff-Radford NR","Myers AJ","George-Hyslop PS","Farrer LA","McCormick WC","Grabowski T","Mains D","Mayeux RP","Trojanowski J","Strittmatter S","O'Connell H","Golde T","Ertekin-Taner N","Barnes LL","Hardy J","Saykin A","Haines JL","Gearing M","Parisi JE","Troncoso JC","Sultzer D","Leverenz JB","Alzheimer’s Disease Genetics Consortium","Williamson J","Frosch MP","Geschwind DH","Page ML","Mayeux R","Schneider LS","Palmer R","Levey AI","Nguyen T","Bird TD","Raj A","Morris JC","Smith J","Wingo TS","O'Bryant SE","Masurkar AV","Raskind M","Montine TJ"],"additional_accession":[]},"is_claimable":false,"name":"GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia.","description":"Genome-wide association studies (GWAS) have identified >80 Alzheimer's disease and related dementias (ADRD)-associated genetic loci. However, the clinical outcomes used in most previous studies belie the complex nature of underlying neuropathologies. Here we performed GWAS on 11 ADRD-related neuropathology endophenotypes with participants drawn from the following three sources: the National Alzheimer's Coordinating Center, the Religious Orders Study and Rush Memory and Aging Project, and the Adult Changes in Thought study (n = 7,804 total autopsied participants). We identified eight independent significantly associated loci, of which four were new (COL4A1, PIK3R5, LZTS1 and APOC2). Separately testing known ADRD loci, 19 loci were significantly associated with at least one neuropathology af","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-01T12:49:25.048Z","creation":"2025-04-19T17:28:23.686Z"},"accession":"S-EPMC11549054","cross_references":{"pubmed":["39379761"],"doi":["10.1038/s41588-024-01939-9"]}}