{"id":"https://openalex.org/W4205757264","doi":"https://doi.org/10.1002/alz.056517","title":"Biomarker\u2010based polygenic risk scores for profiling genetic susceptibility in Alzheimer's disease","display_name":"Biomarker\u2010based polygenic risk scores for profiling genetic susceptibility in Alzheimer's disease","publication_year":2021,"publication_date":"2021-12-01","ids":{"openalex":"https://openalex.org/W4205757264","doi":"https://doi.org/10.1002/alz.056517"},"language":"en","primary_location":{"id":"doi:10.1002/alz.056517","doi":"https://doi.org/10.1002/alz.056517","is_oa":false,"landing_page_url":"https://doi.org/10.1002/alz.056517","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's & Dementia","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5043894866","display_name":"Danai Chasioti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I592451","display_name":"Indiana University","ror":"https://ror.org/01kg8sb98","country_code":"US","type":"education","lineage":["https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Danai Chasioti","raw_affiliation_strings":["Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","Indiana University School of Informatics and Computing, Indianapolis, IN, USA","Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","institution_ids":[]},{"raw_affiliation_string":"Indiana University School of Informatics and Computing, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112727525","display_name":"Tanner Y. Jacobson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tanner Y. Jacobson","raw_affiliation_strings":["Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","institution_ids":[]},{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087302585","display_name":"Kwangsik T. Nho","orcid":"https://orcid.org/0000-0002-7624-3872","observed_orcids":["https://orcid.org/0000-0002-7624-3872"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I592451","display_name":"Indiana University","ror":"https://ror.org/01kg8sb98","country_code":"US","type":"education","lineage":["https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kwangsik Nho","raw_affiliation_strings":["Indiana Alzheimer's Disease Research Center, Indianapolis, IN, USA","Indiana University School of Informatics and Computing, Indianapolis, IN, USA","Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana Alzheimer's Disease Research Center, Indianapolis, IN, USA","institution_ids":[]},{"raw_affiliation_string":"Indiana University School of Informatics and Computing, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018610871","display_name":"Shannon L. Risacher","orcid":"https://orcid.org/0000-0002-3304-7943","observed_orcids":["https://orcid.org/0000-0002-3304-7943"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shannon L. Risacher","raw_affiliation_strings":["Indiana Alzheimer's Disease Research Center, Indianapolis, IN, USA","Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana Alzheimer's Disease Research Center, Indianapolis, IN, USA","institution_ids":[]},{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039635718","display_name":"Sujuan Gao","orcid":"https://orcid.org/0000-0002-6741-6380","observed_orcids":["https://orcid.org/0000-0002-6741-6380","https://orcid.org/0000-0002-8807-9248"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sujuan Gao","raw_affiliation_strings":["Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA","Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103218500","display_name":"Jingwen Yan","orcid":"https://orcid.org/0000-0001-9066-4908","observed_orcids":["https://orcid.org/0000-0001-9066-4908"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I592451","display_name":"Indiana University","ror":"https://ror.org/01kg8sb98","country_code":"US","type":"education","lineage":["https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jingwen Yan","raw_affiliation_strings":["Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","Indiana University School of Informatics and Computing, Indianapolis, IN, USA","Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana Alzheimer Disease Research Center, Indianapolis, IN, USA","institution_ids":[]},{"raw_affiliation_string":"Indiana University School of Informatics and Computing, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5026257338","display_name":"Andrew J. Saykin","orcid":"https://orcid.org/0000-0002-1376-8532","observed_orcids":["https://orcid.org/0000-0002-1376-8532"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew J. Saykin","raw_affiliation_strings":["Indiana Alzheimer's Disease Research Center, Indianapolis, IN, USA","Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana Alzheimer's Disease Research Center, Indianapolis, IN, USA","institution_ids":[]},{"raw_affiliation_string":"Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5043894866"],"corresponding_institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130","https://openalex.org/I592451"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.26370838,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":"S5","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.7660999894142151,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.7660999894142151,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.20569999516010284,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.02199999988079071,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9890000224113464},{"id":"https://openalex.org/keywords/polygenic-risk-score","display_name":"polygenic risk score","score":0.9829999804496765}],"concepts":[{"id":"https://openalex.org/C2781197716","wikidata":"https://www.wikidata.org/wiki/Q864574","display_name":"Biomarker","level":2,"score":0.7006494402885437},{"id":"https://openalex.org/C187869287","wikidata":"https://www.wikidata.org/wiki/Q2032061","display_name":"Endophenotype","level":3,"score":0.4855227470397949},{"id":"https://openalex.org/C22019652","wikidata":"https://www.wikidata.org/wiki/Q331309","display_name":"Overfitting","level":3,"score":0.45823174715042114},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.44841307401657104},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.44600358605384827},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4233357906341553},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.41467708349227905},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.39179813861846924},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3794172406196594},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26293569803237915},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.25270792841911316},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.23684155941009521},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22308436036109924},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1997625231742859},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.17416858673095703},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.10435271263122559},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0999724268913269},{"id":"https://openalex.org/C50644808","wikidata":"https://www.wikidata.org/wiki/Q192776","display_name":"Artificial neural network","level":2,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1002/alz.056517","doi":"https://doi.org/10.1002/alz.056517","is_oa":false,"landing_page_url":"https://doi.org/10.1002/alz.056517","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's & Dementia","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.6399999856948853,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3113119279","https://openalex.org/W4297448040","https://openalex.org/W6977930468","https://openalex.org/W4312086443","https://openalex.org/W4386256813","https://openalex.org/W4312087255","https://openalex.org/W4388199641","https://openalex.org/W7221322962","https://openalex.org/W3007646009","https://openalex.org/W3112930927"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Precision":[2],"medicine":[3],"is":[4,333],"designed":[5],"to":[6,16,32,38,112,214,295,322],"resolve":[7],"heterogeneity":[8],"in":[9,178,186,202,247,280,330],"complex":[10],"diseases":[11],"such":[12],"as":[13,317],"Alzheimer\u2019s":[14],"(AD)":[15],"deliver":[17],"timely":[18],"and":[19,37,53,72,92,106,133,208,223,226,263,311],"tailored":[20,315],"treatment.":[21],"Using":[22,285],"ADNI":[23,50,118],"data,":[24],"we":[25,129,152,194,275,292],"developed":[26,276],"endophenotype\u2010specific":[27,289],"polygenic":[28],"risk":[29,36,42,147,236,282,309],"scores":[30],"(PRS)":[31],"assess":[33],"the":[34,45,117,131,138,157,179,191,203,240],"AD":[35,136,176,204,323],"identify":[39,144,296],"distinct":[40,297],"genetic":[41,146,235,290,299],"profiles":[43,148,237,300],"among":[44,137,149,239,301],"converters.":[46,302],"Method":[47],"We":[48,59],"used":[49,111],"genetic,":[51],"clinical":[52],"biomarker":[54,84,159,273],"data":[55],"for":[56,103,175,220,228,242,255,260,265,283,308,325],"PRS":[57,97,218,274,304],"development.":[58],"derived":[60,287],"four":[61],"ADRD":[62],"endophenotype":[63],"components":[64],"including":[65],"Amyloid":[66],"(A),":[67],"Tau":[68],"(T),":[69],"Neurodegeneration":[70],"(N)":[71],"Vascular":[73],"(V),":[74],"by":[75],"applying":[76],"PCA":[77],"on":[78,169],"11":[79],"phenotypic":[80],"variables.":[81],"Four":[82],"individual":[83],"PRSs":[85,160],"(A,":[86],"T,":[87],"N,":[88],"V)":[89],"were":[90,293],"obtained":[91,195],"combined":[93,272],"into":[94],"a":[95,196,326,334],"single":[96],"(PRSATNV).":[98],"Penalized":[99],"regression":[100],"(Lasso)":[101],"applied":[102],"SNP":[104],"selection":[105],"weight":[107],"re\u2010estimation.":[108],"Bootstrapping":[109],"was":[110,166,183,253],"minimize":[113],"possible":[114],"overfitting.":[115],"On":[116,190],"test":[119],"set,":[120],"after":[121],"removing":[122],"participants":[123],"with":[124],"mild":[125],"cognitive":[126],"impairment":[127],"(MCI),":[128],"estimated":[130],"odds":[132,174],"hazard":[134],"of":[135,181,199,313],"extreme":[139],"PRSATNV":[140,182],"quartiles":[141],"(Q1,Q4).":[142],"To":[143],"biomarker\u2010specific":[145],"LMCI/AD":[150,215],"participants,":[151,193],"performed":[153],"K\u2010means":[154],"clustering":[155],"using":[156],"4":[158],"(PRSA,":[161],"PRST,":[162],"PRSN,":[163],"PRSV).":[164],"Clustering":[165,212],"done":[167],"based":[168],"APOE":[170,244],"groups.":[171],"Result":[172],"The":[173,250,271],"individuals":[177,279],"Q4":[180,209],"double":[184],"those":[185],"Q1":[187,207],"(p=2.2e\u201006,":[188],"AUC=80%).":[189],"same":[192],"significant":[197],"difference":[198,252],"5":[200],"years":[201],"onset":[205,324],"between":[206],"(HR=2.2,":[210],"p=6.9e\u201003).":[211],"restricted":[213],"yielded":[216],"2":[217],"clusters":[219,241,286],"\u03b53/":[221,224,256,261],"\u03b53":[222,257],"\u03b54":[225,230,262,267],"3":[227],"\u03b54/":[229,266],"(Figure":[231],"1).":[232,249,269],"In":[233],"general,":[234],"differed":[238],"all":[243],"groups":[245],"(PRSATNV":[246],"Table":[248],"main":[251],"amyloid\u2010related":[254],"carriers,":[258],"neurodegeneration\u2010related":[259],"tau\u2010related":[264],"(Table":[268],"Conclusion":[270],"successfully":[277],"identified":[278],"high":[281],"AD.":[284],"from":[288],"information":[291],"able":[294],"biomarker\u2010related":[298],"Endophenotype\u2010based":[303],"may":[305,320],"be":[306],"useful":[307],"stratification":[310],"development":[312],"genetically":[314],"therapeutics":[316],"different":[318],"mechanisms":[319],"contribute":[321],"given":[327],"individual.":[328],"Validation":[329],"independent":[331],"samples":[332],"critical":[335],"next":[336],"step.":[337]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2022-01-25T00:00:00"}