Keener, RebeccaRebeccaKeenerChhetri, Surya BSurya BChhetriConnelly, Carla JCarla JConnellyTaub, Margaret AMargaret ATaubConomos, Matthew PMatthew PConomosWeinstock, JoshuaJoshuaWeinstockNi, BohanBohanNiStrober, BenjaminBenjaminStroberAslibekyan, StellaStellaAslibekyanAuer, Paul LPaul LAuerBarwick, LucasLucasBarwickBecker, Lewis CLewis CBeckerBlangero, JohnJohnBlangeroBleecker, Eugene REugene RBleeckerBrody, Jennifer AJennifer ABrodyCade, Brian EBrian ECadeCeledon, Juan CJuan CCeledonYI-CHENG CHANGCupples, L AdrienneL AdrienneCupplesCuster, BrianBrianCusterFreedman, Barry IBarry IFreedmanGladwin, Mark TMark TGladwinHeckbert, Susan RSusan RHeckbertHou, LifangLifangHouIrvin, Marguerite RMarguerite RIrvinIsasi, Carmen RCarmen RIsasiJohnsen, Jill MJill MJohnsenKenny, Eimear EEimear EKennyKooperberg, CharlesCharlesKooperbergMinster, Ryan LRyan LMinsterNaseri, TakeTakeNaseriViali, Satupa'iteaSatupa'iteaVialiNekhai, SergeiSergeiNekhaiPankratz, NathanNathanPankratzPeyser, Patricia APatricia APeyserTaylor, Kent DKent DTaylorTelen, Marilyn JMarilyn JTelenWu, BaojunBaojunWuYanek, Lisa RLisa RYanekYang, Ivana VIvana VYangAlbert, ChristineChristineAlbertArnett, Donna KDonna KArnettAshley-Koch, Allison EAllison EAshley-KochBarnes, Kathleen CKathleen CBarnesBis, Joshua CJoshua CBisBlackwell, Thomas WThomas WBlackwellBoerwinkle, EricEricBoerwinkleBurchard, Esteban GEsteban GBurchardCarson, April PApril PCarsonChen, ZhanghuaZhanghuaChenChen, Yii-Der IdaYii-Der IdaChenDarbar, DawoodDawoodDarbarde Andrade, MarizaMarizade AndradeEllinor, Patrick TPatrick TEllinorFornage, MyriamMyriamFornageGelb, Bruce DBruce DGelbGilliland, Frank DFrank DGillilandHe, JiangJiangHeIslam, TalatTalatIslamKaab, StefanStefanKaabKardia, Sharon L RSharon L RKardiaKelly, ShannonShannonKellyKonkle, Barbara ABarbara AKonkleKumar, RajeshRajeshKumarLoos, Ruth J FRuth J FLoosMartinez, Fernando DFernando DMartinezMcGarvey, Stephen TStephen TMcGarveyMeyers, Deborah ADeborah AMeyersMitchell, Braxton DBraxton DMitchellMontgomery, Courtney GCourtney GMontgomeryNorth, Kari EKari ENorthPalmer, Nicholette DNicholette DPalmerPeralta, Juan MJuan MPeraltaRaby, Benjamin ABenjamin ARabyRedline, SusanSusanRedlineRich, Stephen SStephen SRichRoden, DanDanRodenRotter, Jerome IJerome IRotterRuczinski, IngoIngoRuczinskiSchwartz, DavidDavidSchwartzSciurba, FrankFrankSciurbaShoemaker, M BenjaminM BenjaminShoemakerSilverman, Edwin KEdwin KSilvermanSinner, Moritz FMoritz FSinnerSmith, Nicholas LNicholas LSmithSmith, Albert VAlbert VSmithTiwari, Hemant KHemant KTiwariVasan, Ramachandran SRamachandran SVasanWeiss, Scott TScott TWeissWilliams, L KeokiL KeokiWilliamsZhang, YingzeYingzeZhangZiv, EladEladZivRaffield, Laura MLaura MRaffieldReiner, Alexander PAlexander PReinerArvanitis, MariosMariosArvanitisGreider, Carol WCarol WGreiderMathias, Rasika ARasika AMathiasBattle, AlexisAlexisBattle2026-01-062026-01-062024-05-24https://scholars.lib.ntu.edu.tw/handle/123456789/735069Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry meta-analysis of 211,369 individuals and identified five novel association signals. Enrichment analyses of chromatin state and cell-type heritability suggested that blood/immune cells are the most relevant cell type to examine telomere length association signals. We validated specific GWAS associations by overexpressing KBTBD6 or POP5 and demonstrated that both lengthened telomeres. CRISPR/Cas9 deletion of the predicted causal regions in K562 blood cells reduced expression of these genes, demonstrating that these loci are related to transcriptional regulation of KBTBD6 and POP5. Our results demonstrate the utility of telomere length GWAS in the identification of telomere length regulation mechanisms and validate KBTBD6 and POP5 as genes affecting telomere length regulation.entrue[SDGs]SDG3journal article10.1038/s41467-024-48394-y387894172-s2.0-85194218687