{"id":"https://openalex.org/W99655083","doi":null,"title":"Role of Epistasis in Alzheimer's Disease Genetics","display_name":"Role of Epistasis in Alzheimer's Disease Genetics","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W99655083","mag":"99655083"},"language":"en","primary_location":{"id":"pmh:oai:scholarsarchive.byu.edu:etd-5324","doi":null,"is_oa":false,"landing_page_url":"https://scholarsarchive.byu.edu/etd/4325","pdf_url":null,"source":{"id":"https://openalex.org/S4377196308","display_name":"ScholarsArchive  (Brigham Young University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I100005738","host_organization_name":"Brigham Young University","host_organization_lineage":["https://openalex.org/I100005738"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses and Dissertations","raw_type":"text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5061791430","display_name":"Mark Ebbert","orcid":"https://orcid.org/0000-0001-9158-4440","observed_orcids":["https://orcid.org/0000-0001-9158-4440"]},"institutions":[{"id":"https://openalex.org/I100005738","display_name":"Brigham Young University","ror":"https://ror.org/047rhhm47","country_code":"US","type":"education","lineage":["https://openalex.org/I100005738"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Mark Ebbert","raw_affiliation_strings":["Brigham Young Univ"],"raw_orcid":"https://orcid.org/0000-0001-9158-4440","affiliations":[{"raw_affiliation_string":"Brigham Young Univ","institution_ids":["https://openalex.org/I100005738"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5061791430"],"corresponding_institution_ids":["https://openalex.org/I100005738"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00353873,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.007400000002235174,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.00139999995008111,"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":0.890999972820282},{"id":"https://openalex.org/keywords/epistasis","display_name":"epistasis","score":0.968999981880188},{"id":"https://openalex.org/keywords/gene-gene-interaction","display_name":"gene-gene interaction","score":0.9079999923706055},{"id":"https://openalex.org/keywords/genetic-susceptibility-markers","display_name":"genetic susceptibility markers","score":0.6209999918937683},{"id":"https://openalex.org/keywords/clusterin","display_name":"clusterin","score":0.9419999718666077},{"id":"https://openalex.org/keywords/cd33","display_name":"CD33","score":0.9990000128746033},{"id":"https://openalex.org/keywords/apoe-epsilon4","display_name":"APOE \u03b54","score":0.9649999737739563},{"id":"https://openalex.org/keywords/gene-dosage-effect","display_name":"gene dosage effect","score":0.6589999794960022},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.6159999966621399},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.30300000309944153},{"id":"https://openalex.org/keywords/cache-county","display_name":"Cache County","score":0.4959999918937683},{"id":"https://openalex.org/keywords/meta-analysis","display_name":"meta-analysis","score":0.4959999918937683},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.39899998903274536},{"id":"https://openalex.org/keywords/alzheimer-s-disease-progression","display_name":"Alzheimer's disease progression","score":0.34200000762939453}],"concepts":[{"id":"https://openalex.org/C61727976","wikidata":"https://www.wikidata.org/wiki/Q751748","display_name":"Epistasis","level":3,"score":0.7794026732444763},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.7460554838180542},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.6132713556289673},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6020339131355286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4718472957611084},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36251068115234375},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.35407552123069763},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.29589372873306274},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.09897813200950623}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:scholarsarchive.byu.edu:etd-5324","doi":null,"is_oa":false,"landing_page_url":"https://scholarsarchive.byu.edu/etd/4325","pdf_url":null,"source":{"id":"https://openalex.org/S4377196308","display_name":"ScholarsArchive  (Brigham Young University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I100005738","host_organization_name":"Brigham Young University","host_organization_lineage":["https://openalex.org/I100005738"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Theses and Dissertations","raw_type":"text"},{"id":"mag:99655083","doi":null,"is_oa":false,"landing_page_url":"https://scholarsarchive.byu.edu/cgi/viewcontent.cgi?article=5324&context=etd","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":53,"referenced_works":["https://openalex.org/W113043062","https://openalex.org/W1499597724","https://openalex.org/W1964245668","https://openalex.org/W1966360257","https://openalex.org/W1966831629","https://openalex.org/W1984939442","https://openalex.org/W1991964573","https://openalex.org/W1999631936","https://openalex.org/W2000223104","https://openalex.org/W2007669896","https://openalex.org/W2010192073","https://openalex.org/W2017079501","https://openalex.org/W2018749246","https://openalex.org/W2021181758","https://openalex.org/W2030262399","https://openalex.org/W2036362108","https://openalex.org/W2037394663","https://openalex.org/W2042141031","https://openalex.org/W2046590674","https://openalex.org/W2058401000","https://openalex.org/W2066799723","https://openalex.org/W2071384428","https://openalex.org/W2075219817","https://openalex.org/W2076357933","https://openalex.org/W2081872599","https://openalex.org/W2102619694","https://openalex.org/W2106392447","https://openalex.org/W2108234281","https://openalex.org/W2117197109","https://openalex.org/W2119180969","https://openalex.org/W2121820194","https://openalex.org/W2123971761","https://openalex.org/W2125858955","https://openalex.org/W2126683162","https://openalex.org/W2133520037","https://openalex.org/W2137586668","https://openalex.org/W2138621686","https://openalex.org/W2141820415","https://openalex.org/W2142801465","https://openalex.org/W2145210308","https://openalex.org/W2152119060","https://openalex.org/W2156220037","https://openalex.org/W2159734538","https://openalex.org/W2161633633","https://openalex.org/W2162530578","https://openalex.org/W2165465283","https://openalex.org/W2168133698","https://openalex.org/W2169719205","https://openalex.org/W2182650680","https://openalex.org/W2214787545","https://openalex.org/W2320303633","https://openalex.org/W2582743722","https://openalex.org/W4300196896"],"related_works":["https://openalex.org/W1961398302","https://openalex.org/W2967670901","https://openalex.org/W2018749246","https://openalex.org/W2000223104","https://openalex.org/W2227373032","https://openalex.org/W2005825831","https://openalex.org/W3134616382","https://openalex.org/W2093478993","https://openalex.org/W2147976902","https://openalex.org/W3049380771"],"abstract_inverted_index":{"Alzheimer's":[0,40,71,80,108,116,134,200,253,314,405,416,440],"disease":[1,6,41,72,81,109,117,135,254,417,441],"is":[2,77,179,249,263],"a":[3,37,88,212,322],"complex":[4,413],"neurodegenerative":[5],"whose":[7],"basic":[8],"etiology":[9],"and":[10,32,74,83,94,104,126,148,158,161,226,276,343,346,385,423,434],"genetic":[11,24,51,118],"structure":[12],"remains":[13],"elusive,":[14],"despite":[15],"decades":[16],"of":[17,57,90,307,311,396,402,415,430,436],"intensive":[18],"investigation.":[19],"To":[20],"date,":[21],"the":[22,114,184,190,199,267,295,300,305,309,327,393,400,412,437],"significant":[23],"markers":[25,45,119],"identified":[26,140,216],"have":[27],"no":[28,67],"obvious":[29],"functional":[30],"effects,":[31],"are":[33,46,61,85,186,287,376],"unlikely":[34],"to":[35,49,181,349,388,410],"play":[36],"role":[38,310,401],"in":[39,193,237,257,299,313,340,353,392,404],"etiology,":[42],"themselves.":[43],"These":[44,302,374],"likely":[47],"linked":[48],"other":[50,344],"variations,":[52],"rare":[53],"or":[54,367],"common.":[55],"Regardless":[56],"what":[58],"causal":[59],"mutations":[60],"found,":[62],"research":[63,342],"has":[64,335],"demonstrated":[65],"that":[66,79,130,240],"single":[68],"gene":[69],"determines":[70],"development":[73,82],"progression.":[75],"It":[76],"clear":[78],"progression":[84],"based":[86],"on":[87,100,107,122,172,365],"set":[89,175,197,363],"interactions":[91,102,129,144,185],"between":[92,145],"genes":[93],"environmental":[95],"variables.":[96],"This":[97],"dissertation":[98],"focuses":[99],"gene-gene":[101,143],"(epistasis)":[103],"their":[105,432],"effects":[106,229,286],"case-control":[110,255],"status.":[111,138],"We":[112,139,188,214],"genotyped":[113],"top":[115],"as":[120,326],"found":[121],"AlzGene.org":[123],"(accessed":[124],"2014),":[125],"tested":[127],"for":[128,378],"were":[131,386],"associated":[132],"with":[133,252],"case-":[136],"control":[137],"two":[141],"potential":[142,217],"rs11136000":[146],"(CLU)":[147],"rs670139":[149,162],"(MS4A4E)":[150,163],"(synergy":[151,164,204,219,230,269,279],"factor":[152,165,205,220,231,270,280],"=":[153,156,166,169,206,209,221,224,232,235,271,274,281,284],"3.81;":[154],"p":[155,168,208,223,234,273,283],"0.016),":[157],"rs3865444":[159],"(CD33)":[160],"5.31;":[167],"0.003).":[170],"Based":[171],"one":[173],"data":[174,196,298,356],"alone,":[176],"however,":[177,289],"it":[178],"difficult":[180],"know":[182],"whether":[183],"real.":[187],"replicated":[189],"CLU-MS4A4E":[191],"interaction":[192],"an":[194,250,337],"independent":[195],"from":[198],"Disease":[201],"Genetics":[202],"Consortium":[203],"2.37,":[207],"0.007)":[210],"using":[211,381],"meta-analysis.":[213,301],"also":[215,320],"dosage":[218,268],"2.98,":[222],"0.05)":[225],"APOE":[227,246,258,277],"\u03b54":[228,247,259,278],"4.75,":[233],"0.005)":[236],"Cache":[238,296],"County":[239,297],"did":[241],"not":[242],"replicate":[243,292],"independently.":[244],"The":[245,331],"effect":[248],"association":[251],"status":[256],"negative":[260],"individuals.":[261],"There":[262],"minor":[264],"evidence":[265],"both":[266],"1.73,":[272],"0.02)":[275],"2.08,":[282],"0.004)":[285],"real,":[288],"because":[290],"they":[291],"when":[293],"including":[294],"results":[303],"demonstrate":[304],"importance":[306],"understanding":[308,399],"epistasis":[312,403],"disease.":[315],"During":[316],"this":[317,341,397,420],"research,":[318],"we":[319],"developed":[321,348],"novel":[323],"tool":[324],"known":[325],"Variant":[328,332],"Tool":[329,333],"Chest.":[330],"Chest":[334],"played":[336],"integral":[338],"part":[339],"projects,":[345],"was":[347],"fill":[350],"numerous":[351],"gaps":[352],"next-generation":[354,382],"sequence":[355],"analysis.":[357],"Critical":[358],"features":[359,375],"include":[360],"advanced,":[361],"genotype-aware":[362],"operations":[364],"single-":[366],"multi-sample":[368],"variant":[369],"call":[370],"format":[371],"(VCF)":[372],"files.":[373],"critical":[377],"genetics":[379],"studies":[380],"sequencing":[383],"data,":[384],"used":[387],"perform":[389],"important":[390],"analyses":[391],"third":[394],"study":[395],"dissertation.By":[398],"disease,":[406],"researchers":[407],"will":[408,425],"begin":[409],"untangle":[411],"nature":[414],"etiology.":[418],"With":[419],"information,":[421],"therapies":[422],"diagnostics":[424],"be":[426],"possible,":[427],"alleviating":[428],"millions":[429],"patients,":[431],"families":[433],"caregivers":[435],"painful":[438],"experience":[439],"inflicts":[442],"upon":[443],"them.":[444]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}