{"id":"https://openalex.org/W2001597264","doi":"https://doi.org/10.1016/j.jalz.2014.05.270","title":"P1\u2010035: BIVARIATE GENOME\u2010WIDE ASSOCIATION STUDY OF ALZHEIMER DISEASE ENDOPHENOTYPES IDENTIFIES NOVEL LOCI","display_name":"P1\u2010035: BIVARIATE GENOME\u2010WIDE ASSOCIATION STUDY OF ALZHEIMER DISEASE ENDOPHENOTYPES IDENTIFIES NOVEL LOCI","publication_year":2014,"publication_date":"2014-07-01","ids":{"openalex":"https://openalex.org/W2001597264","doi":"https://doi.org/10.1016/j.jalz.2014.05.270","mag":"2001597264"},"language":"en","primary_location":{"id":"doi:10.1016/j.jalz.2014.05.270","doi":"https://doi.org/10.1016/j.jalz.2014.05.270","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2014.05.270","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 &amp; 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/A5037425044","display_name":"Jaeyoon Chung","orcid":"https://orcid.org/0000-0002-6431-9454","observed_orcids":["https://orcid.org/0000-0002-6431-9454"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jaeyoon Chung","raw_affiliation_strings":["Boston University, Bioinformatics Graduate Program, Boston, Massachusetts, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston University, Bioinformatics Graduate Program, Boston, Massachusetts, United States","institution_ids":["https://openalex.org/I111088046"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038477961","display_name":"Lindsay A. Farrer","orcid":"https://orcid.org/0000-0001-5533-4225","observed_orcids":["https://orcid.org/0000-0001-5533-4225","https://orcid.org/0000-0001-6954-4477"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lindsay A. Farrer","raw_affiliation_strings":["Boston University School of Medicine Boston Massachusetts United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston University School of Medicine Boston Massachusetts United States","institution_ids":["https://openalex.org/I111088046"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5035614830","display_name":"Gyungah Jun","orcid":"https://orcid.org/0000-0002-3230-8697","observed_orcids":["https://orcid.org/0000-0002-3230-8697"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gyungah Jun","raw_affiliation_strings":["Boston University School of Medicine Boston Massachusetts United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston University School of Medicine Boston Massachusetts United States","institution_ids":["https://openalex.org/I111088046"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I111088046"],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.13148055,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"10","issue":"4S_Part_8","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":0.5663999915122986,"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":0.5663999915122986,"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":0.3910999894142151,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":0.0348999984562397,"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":0.953000009059906},{"id":"https://openalex.org/keywords/endophenotypes","display_name":"endophenotypes","score":0.953000009059906}],"concepts":[{"id":"https://openalex.org/C187869287","wikidata":"https://www.wikidata.org/wiki/Q2032061","display_name":"Endophenotype","level":3,"score":0.8309029340744019},{"id":"https://openalex.org/C64341305","wikidata":"https://www.wikidata.org/wiki/Q4919225","display_name":"Bivariate analysis","level":2,"score":0.809394896030426},{"id":"https://openalex.org/C199163554","wikidata":"https://www.wikidata.org/wiki/Q1681619","display_name":"Univariate","level":3,"score":0.7244704961776733},{"id":"https://openalex.org/C2778373026","wikidata":"https://www.wikidata.org/wiki/Q4738819","display_name":"Alzheimer's Disease Neuroimaging Initiative","level":4,"score":0.7012357711791992},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.679049015045166},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5153836011886597},{"id":"https://openalex.org/C144301174","wikidata":"https://www.wikidata.org/wiki/Q7893852","display_name":"Univariate analysis","level":3,"score":0.49190831184387207},{"id":"https://openalex.org/C161584116","wikidata":"https://www.wikidata.org/wiki/Q1952580","display_name":"Multivariate statistics","level":2,"score":0.473591148853302},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4628787040710449},{"id":"https://openalex.org/C95190672","wikidata":"https://www.wikidata.org/wiki/Q815382","display_name":"Meta-analysis","level":2,"score":0.4570893943309784},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.44703662395477295},{"id":"https://openalex.org/C38180746","wikidata":"https://www.wikidata.org/wiki/Q1952580","display_name":"Multivariate analysis","level":2,"score":0.4285304546356201},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4051899015903473},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.36140087246894836},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.3588593602180481},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3527374863624573},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3509812355041504},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32209333777427673},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.29186704754829407},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1922932267189026},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.17835095524787903},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.1659756302833557},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.16587963700294495},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.11251699924468994},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0858449637889862}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jalz.2014.05.270","doi":"https://doi.org/10.1016/j.jalz.2014.05.270","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2014.05.270","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 &amp; Dementia","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"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/W2416415440","https://openalex.org/W2765292809","https://openalex.org/W2114422307","https://openalex.org/W2897103687","https://openalex.org/W2044644404","https://openalex.org/W4388185574","https://openalex.org/W2775900076","https://openalex.org/W2055016868","https://openalex.org/W2133522033","https://openalex.org/W4245772573"],"abstract_inverted_index":{"Previous":[0],"genome-wide":[1,170,186],"association":[2,53,210],"(GWA)":[3],"studies":[4],"of":[5,17,25,42,50,58,84,137,209,275,301,322],"endophenotypes":[6,46,303],"for":[7,14,75,110,191,213,239,335],"Alzheimer":[8],"disease":[9,87],"(AD)":[10],"considered":[11],"separate":[12],"outcomes":[13],"a":[15,51,59,64,185,279,291],"variety":[16],"measures":[18],"including":[19,92],"hippocampal":[20],"volume":[21,274],"(HPV),":[22],"immediate":[23],"recall":[24],"logical":[26],"memory":[27],"(LMI),":[28],"and":[29,78,99,101,105,112,120,125,127,156,271,278,325],"A\u03b2":[30,287],"42":[31,288],"level":[32,289],"in":[33,81,152,162,165,174,282,290,320],"cerebrospinal":[34],"fluid":[35],"(ABETA).":[36],"We":[37,71,314],"hypothesized":[38],"that":[39,298,331],"simultaneous":[40,299],"consideration":[41,300],"two":[43,82,138,153],"(bivariate)":[44],"distinct":[45],"would":[47],"improve":[48],"strength":[49],"genetic":[52,66],"signal":[54],"compared":[55],"to":[56,264,306,328],"analysis":[57,145],"single":[60],"outcome":[61,108,195,217,243],"(univariate)":[62],"if":[63],"particular":[65],"variant":[67,281],"influences":[68],"both":[69,268],"endophenotypes.":[70],"conducted":[72],"GWA":[73],"analyses":[74],"LMI,":[76],"HPV,":[77],"ABETA":[79,121,126],"separately":[80,151],"subsets":[83],"the":[85,142,158,166,180,192,214,240,286],"Alzheimer's":[86],"Neuroimaging":[88],"Initiative":[89],"(ADNI)":[90],"cohort":[91],"ADNI-1":[93],"(AD=163,":[94],"mild":[95],"cognitive":[96],"impairment":[97],"[MCI]=329,":[98],"normal=187)":[100],"ADNI-2":[102],"(AD=27,":[103],"MCI=248,":[104],"normal=116).":[106],"Bivariate":[107,147],"results":[109,140,148,159,235,296],"HPV":[111,119],"LMI":[113,128],"(correlation":[114],"[\u03c1]=":[115],"0.25,":[116],"p=4.4x10":[117,123],"-16),":[118,124],"(\u03c1=0.34,":[122],"(\u03c1=0.19,":[129],"p=8.2x":[130],"-6)":[131],"were":[132,149,160,169,236],"computed":[133],"from":[134],"summary":[135],"statistics":[136],"univariate":[139],"using":[141],"O'Brian's":[143],"multivariate":[144],"method.":[146],"calculated":[150],"ADNI":[154],"datasets":[155],"then":[157],"combined":[161],"meta-analysis.":[163],"SNPs":[164,221,245],"APOE":[167,181],"region":[168],"significant":[171,187,308],"(p<5x10":[172],"-8)":[173],"all":[175],"three":[176],"bivariate":[177,193,215,241],"models.":[178],"Outside":[179],"region,":[182],"we":[183],"observed":[184],"SNP":[188],"near":[189,222,246],"MRPL50P1":[190],"HPV-LMI":[194],"(rs2222227;":[196],"meta-analysis":[197],"p":[198],"value":[199],"[p-value]:":[200],"HPV=1.2x10":[201],"-6,":[202,255],"LMI=1.6x10":[203],"-5,":[204,229,231],"HPV-LMI=3.9x10":[205],"-8).":[206,233],"Suggestive":[207],"evidence":[208],"(p<10":[211],"-7)":[212],"HPV-ABETA":[216],"was":[218],"found":[219],"with":[220,244,267,310],"CD70":[223],"(best":[224,248],"SNP,":[225,249],"rs62123175;":[226],"p-value:":[227,251],"HPV=6.5x10":[228],"ABETA=2.4x10":[230],"HPV-ABETA=8.5x10":[232],"Remarkable":[234],"also":[237],"obtained":[238],"ABETA-LMI":[242],"CTNND2":[247,259,283],"rs6554614;":[250],"ABETA=6.6x10":[252],"-4,":[253],"LMI=2.0x10":[254],"ABETA-LMI=1.3x10":[256],"-7).":[257],"The":[258],"gene":[260],"is":[261],"previously":[262],"known":[263],"be":[265],"associated":[266],"age-related":[269],"cataract":[270],"temporal":[272],"horn":[273],"brain":[276],"MRI,":[277],"non-synonymous":[280],"selectively":[284],"increases":[285,304],"neuronal":[292],"cell":[293],"line.":[294],"These":[295],"indicate":[297],"AD-relevant":[302],"power":[305],"identify":[307,329],"associations":[309,330],"pleiotropic":[311],"effect":[312],"genes.":[313],"are":[315,332],"currently":[316],"applying":[317],"this":[318],"approach":[319],"subgroups":[321],"AD,":[323],"MCI,":[324],"normal":[326],"subjects":[327],"potential":[333],"biomarkers":[334],"AD.":[336]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}