{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Valentino RR"],"funding":["Intramural NIH HHS","NIA NIH HHS","NIDCD NIH HHS","NINDS NIH HHS","Wellcome Trust"],"pagination":["487-499"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11877577"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(5)"],"pubmed_abstract":["<h4>Background</h4>Pick's disease is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. Pick's disease is pathologically defined by the presence in the frontal and temporal lobes of Pick bodies, composed of hyperphosphorylated, three-repeat tau protein, encoded by the MAPT gene. MAPT has two distinct haplotypes, H1 and H2; the MAPT H1 haplotype is the major genetic risk factor for four-repeat tauopathies (eg, progressive supranuclear palsy and corticobasal degeneration), and the MAPT H2 haplotype is protective for these disorders. The primary aim of this study was to evaluate the association of MAPT H2 with Pick's disease risk, age at onset, and disease duration.<h4>Methods</h4>In this genetic association study, we used data from th"],"journal":["The Lancet. Neurology"],"pubmed_title":["MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study."],"pmcid":["PMC11877577"],"funding_grant_id":["K24 AG053435","R01 NS078086","R01 AG077444","U54 NS110435","P30 AG062677","U01 AG057195","RF1 NS120992","P30 AG019610","RF1 NS118584","R01 DC014942","K08 AG052648","P30 AG072958","U19 AG063911","U01 NS100620","P30 AG010124","P30 AG062421","P30 AG062422","P01 AG003949","R01 NS120992","UG3 NS104095","R01 DC012519","RF1 NS112153","U19 AG062418","ZIA AG000535","R01 AG050603","P30 AG066511","R01 AG037491","220582/Z/20/Z","K08 AG065463","P01 AG066597","U19 AG071754","R01 NS089757","P30 AG010133","P01 AG019724","U01 AG006786","P30 AG072980","220258","P01 AG017586","U24 NS072026","P30 AG066462","P30 AG072976","P30 AG072977","P50 AG023501","U54 NS100693","R01 DC008552","R01 NS075075","P30 AG072979","P30 AG013854","R01 NS112153","R01 NS109260","P50 NS072187","R01 AG056258","U01 AG045390","R01 AG062566"],"pubmed_authors":["DeTure M","Suh E","Roncaroli F","Metcalf J","Hodges JR","Revesz T","Neumann M","Spina S","Wolk DA","Newell KL","Finger EC","Pinol-Ripoll G","Keith JL","Purohit DP","Irwin DJ","Sieben AA","Pahwa R","Hardy JA","Tamvaka N","Kwok JB","Walker J","Giaccone G","Heckman MG","Roemer SF","Scotton WJ","Ghetti B","Cras PP","MacKenzie IR","Duara R","Lyons KE","Redding-Ochoa J","White CL","Balasa M","Bieniek KF","Grossman M","Schneider JA","Prokop S","Haroutunian V","Latimer CS","Lee EB","Seeley WW","Kovacs GG","Morris HR","Nalls MA","Christopher EA","Lashley T","Mechawar N","Van Deerlin VM","Kobylecki C","Keene D","Piguet O","Nacmias B","Teich AF","Richardson A","Bird T","Pick's disease International Consortium","Vitale D","Whitwell JL","Nagra RM","Koga S","Gelpi E","Robinson AC","Boeve BF","Schantz A","Perrin RJ","Miller B","Weintraub S","Nennesmo I","Chang K","Seilhean D","Murray ME","Grinberg LT","Borrego-Ecija S","Attems J","Knopman DS","Rowe JB","Black SE","Troakes C","Arzberger T","McLean C","De Deyn PP","Graff C","Duyckaerts C","Soto-Beasley AI","Wang SJ","Jaunmuktane Z","Zhu X","Turbant-Leclere S","Beach TG","Peng L","Warner TT","Dickson DW","Connors TR","Schlereth A","Rademakers R","Chaffee A","Shoai M","Trojanowski JQ","Le Ber I","Graff-Radford NR","Wszolek ZK","Dooley PM","Molina-Porcel L","Sanz-Cartagena P","Singh P","Walton RL","Aldecoa I","Morris CM","Josephs KA","De Vil BB","Rohrer JD","Mok K","Cykowski MD","Macpherson HL","Masellis M","Petersen RC","Flanagan ME","Bodi I","Jones M","Snowden J","Ang LC","Riehl J","Allinson K","Roeber S","Halliday GM","Oakley DH","Leskinen SP","Martinez-Carrasco A","Goldman JE","Al-Sarraj S","Kril JJ","Franklin E","Bigio EH","Gefen T","Flowers XE","Gascon-Bayarri J","Blauwendraat C","Rogalski EJ","Gearing M","Valentino RR","Troncoso JC","Baker MC","Rissman RA","Real R","Frosch MP","Cunha C","Castellani RJ","Carvalho A","Ervin JF","Singleton AB","Jacobsen M","Ross OA","Boluda S","Thomas AJ","Serrano GE","King A","Evers BM","Heaps AC","Sanchez-Valle R"],"additional_accession":[]},"is_claimable":false,"name":"MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.","description":"<h4>Background</h4>Pick's disease is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. Pick's disease is pathologically defined by the presence in the frontal and temporal lobes of Pick bodies, composed of hyperphosphorylated, three-repeat tau protein, encoded by the MAPT gene. MAPT has two distinct haplotypes, H1 and H2; the MAPT H1 haplotype is the major genetic risk factor for four-repeat tauopathies (eg, progressive supranuclear palsy and corticobasal degeneration), and the MAPT H2 haplotype is protective for these disorders. The primary aim of this study was to evaluate the association of MAPT H2 with Pick's disease risk, age at onset, and disease duration.<h4>Methods</h4>In this genetic association study, we used data from th","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-06-02T07:25:03.963Z","creation":"2025-07-08T03:10:59.807Z"},"accession":"S-EPMC11877577","cross_references":{"pubmed":["38631765"],"doi":["10.1016/S1474-4422(24)00083-8","10.1016/s1474-4422(24)00083-8"]}}