biostudies-literatureSchott JMNIA NIH HHSNational Institute for Health Research (NIHR)National Institutes of HealthNIHDana Foundation1486.e9-15https://www.ebi.ac.uk/biostudies/studies/S-EPMC3150628biostudies-literatureUnknown33(7)Defining cases and controls on the basis of biomarkers rather than clinical diagnosis may reduce sample sizes required for genetic studies. The aim of this study was to assess whether characterizing case/control status on the basis of cerebrospinal fluid (CSF) profile would increase power to replicate known genetic associations for Alzheimer's disease (AD). Independent of clinical diagnosis, Alzheimer's Disease Neuroimaging Initiative (ADNI) subjects with 2 CSF biomarkers for AD (Aβ1-42 < 192 pg/mL and tau phosphorylated at threonine 181 (p-tau) > 23 pg/mL, "CSF-positive") were compared with those without CSF evidence for AD (Aβ1-42 > 192 pg/mL and 181-phosphorylated tau < 23 pg/mL, "CSF-negative"). Minor allele frequency (MAF) and odds ratios (ORs) between these 2 groups were calculated fNeurobiology of agingUsing CSF biomarkers to replicate genetic associations in Alzheimer's disease.PMC3150628U01 AG024904U19 AG010483K01 AG030514P30 AG010129Rodriguez-Vieitez ERulseh ARhinn HSpeier WBrewer JDevanarayan VDepy Carron DLane BSvetnik VHaas MLobach IBattaglini IYuan YMathis CKorolev IMa SLSherer EVoineskos AMa SMThames ATauber CWang YMMartins RHochstetler HLevey AFletcher ESteenland NDecker SPriya KSchwarz ABartlett JSymons SBoot BZhu ZYu PWittemer EGillespie WSummers DBjornsdotter MShilaskar SHuentelman MSotolongo-Grau ORamirez ALiao SSuen SToledo JBSchwarz JWhite BKanchev VAksu YForsythe AAyan-Oshodi MYamashita FWishart HZhu HGreicius MMenendez EAbdulkadir AKaneko TOsadebey MSchott JWesnes KZhu LSnyder PZhu XBaruchin ASpringate BSato HWestaway SDong WThornton-Wells TWheland DFriedrich CMHyun JBroadbent SLandau SNekooei SShankle WSanthamma SScharre DRao AAndrews KAVan de Nes JRao 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NHolmes RMcLaren DJoshi ANiethammer MCampbell NFang ZNguyen HSzigeti KWolz RFranko EToyoshiba HTrittschuh EfalseUsing CSF biomarkers to replicate genetic associations in Alzheimer's disease.Defining cases and controls on the basis of biomarkers rather than clinical diagnosis may reduce sample sizes required for genetic studies. The aim of this study was to assess whether characterizing case/control status on the basis of cerebrospinal fluid (CSF) profile would increase power to replicate known genetic associations for Alzheimer's disease (AD). Independent of clinical diagnosis, Alzheimer's Disease Neuroimaging Initiative (ADNI) subjects with 2 CSF biomarkers for AD (Aβ1-42 < 192 pg/mL and tau phosphorylated at threonine 181 (p-tau) > 23 pg/mL, "CSF-positive") were compared with those without CSF evidence for AD (Aβ1-42 > 192 pg/mL and 181-phosphorylated tau < 23 pg/mL, "CSF-negative"). Minor allele frequency (MAF) and odds ratios (ORs) between these 2 groups were calculated f2012-01-01T00:00:00Z2012 Jul2026-05-03T12:26:39.937Z2019-03-27T03:07:47ZS-EPMC31506282145948310.1016/j.neurobiolaging.2011.02.008