Evidence map›Paper›PMID 23001564›Full record

SynthesisHuman molecular genetics2012

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.

Massimo Mangino, Shih-Jen Hwang, Timothy D Spector, Steven C Hunt, Masayuki Kimura, Annette L Fitzpatrick, Lene Christiansen, Inge Petersen, Clara C Elbers, Tamara Harris and 29 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 153 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
153citing papers in PubMed, 10 pooled it
8.3field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

153 citing papers in PubMed, 10 syntheses or guidelines pooled it, 241 citations in OpenAlex.

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93 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors at 20 institutions in 5 countries.

Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Shih-Jen Hwang
Timothy D Spector
Steven C Hunt
Masayuki Kimura
Annette L Fitzpatrick
Lene Christiansen
Inge Petersen
Clara C Elbers
Tamara Harris
Wei Chen
Sathanur R Srinivasan
Jeremy D Kark
Athanase Benetos
Said El Shamieh
Sophie Visvikis-Siest
Kaare Christensen
Gerald S Berenson
Ana M Valdes
Ana Viñuela
Melissa Garcia
Donna K Arnett
Ulrich Broeckel
Michael A Province
James S Pankow
Candace Kammerer
Yongmei Liu
Michael Nalls
Sarah Tishkoff
Fridtjof Thomas
Elad Ziv
Bruce M Psaty
Joshua C Bis
Jerome I Rotter
Kent D Taylor
Erin Smith
Nicholas J Schork
Daniel Levy
Abraham Aviv
King's College London · GBTulane University · USUniversity of Southern Denmark · DKCedars-Sinai Medical Center · USNational Heart Lung and Blood Institute · USRutgers, The State University of New Jersey · USUniversité de Lorraine · FRUniversity of Pennsylvania · USGroup Health Cooperative · USHebrew University of Jerusalem · ILInserm · FRMedical College of Wisconsin · USNational Institute on Aging · USScripps Research Institute · USUniversity of Alabama at Birmingham · USUniversity of California San Diego · USUniversity of California, San Francisco · USUniversity of Minnesota · USUniversity of Pittsburgh · USUniversity of Tennessee Health Science Center · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
HYPERGEN: GENETICS OF LEFT VENTRICULAR HYPERTROPHYR01HL055673 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ARNETT, DONNA K · 1996 to 2016
$18.1M
EVOLUTION OF CARDIOVASCULAR RISK WITH NORMAL AGINGR01AG016592 · NIA · TULANE UNIVERSITY OF LOUISIANA · PI CHEN, WEI · 2000 to 2015
$11.7M
Exceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
The Family Blood Pressure Program (HyperGEN Network)U01HL054471 · NHLBI · UNIVERSITY OF UTAH · PI HUNT, STEVEN C. · 2000 to 2007
$7.4M
CHS Events Follow-up StudyR01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2009 to 2014
$6.3M
The Family Blood Pressure Program (Program Data Center)U01HL054473 · NHLBI · WASHINGTON UNIVERSITY · PI RAO, DABEERU C · 2000 to 2008
$5.8M
WGA Study to Identify Genetic Variants Associated with CV Events in CHSR01HL087652 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2007 to 2009
$5.1M
CHS Events Follow-up StudyU01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2005 to 2008
$4.6M
Predictors of Alheimers Disease in Mild Cognitive ImpairmentR01AG020098 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LOPEZ, OSCAR L. · 2002 to 2011
$3.7M
Intramural NIH HHSNCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1TR000124NCI NIH HHS K24 CA169004NHGRI NIH HHS HHSN268200782096CNHLBI NIH HHS 1 R01 HL80698-01NHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HL055673NHLBI NIH HHS HL080295NHLBI NIH HHS HL087652NHLBI NIH HHS HL105756NHLBI NIH HHS HL54471NHLBI NIH HHS HL54472NHLBI NIH HHS HL54473NHLBI NIH HHS HL54495NHLBI NIH HHS HL54496NHLBI NIH HHS HL54509NHLBI NIH HHS HL54515NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC075150NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC-15103NHLBI NIH HHS N01-HC-25195NHLBI NIH HHS N01-HC-35129NHLBI NIH HHS N01-HC-45133NHLBI NIH HHS N01 HC-55222NHLBI NIH HHS N01-HC-75150NHLBI NIH HHS N01-HC-85079NHLBI NIH HHS N01-HC-85086NHLBI NIH HHS N01-HC-85239NHLBI NIH HHS R01 HL055673NHLBI NIH HHS R01 HL080295NHLBI NIH HHS R01 HL080698NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL105756NHLBI NIH HHS U01 HL054471NHLBI NIH HHS U01 HL054472NHLBI NIH HHS U01 HL054473NHLBI NIH HHS U01 HL054495NHLBI NIH HHS U01 HL054496NHLBI NIH HHS U01 HL054509NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U10 HL054471NHLBI NIH HHS U10 HL054472NHLBI NIH HHS U10 HL054473NHLBI NIH HHS U10 HL054495NHLBI NIH HHS U10 HL054496NHLBI NIH HHS U10 HL054509NIA NIH HHS 1R01AG032098-01A1NIA NIH HHS AG 023629NIA NIH HHS AG-027058NIA NIH HHS AG-15928NIA NIH HHS AG-16592NIA NIH HHS AG-20098NIA NIH HHS N01 AG062101NIA NIH HHS N01 AG062103NIA NIH HHS N01 AG062106NIA NIH HHS N01AG62101NIA NIH HHS N01AG62103NIA NIH HHS N01AG62106NIA NIH HHS R01 AG015928NIA NIH HHS R01 AG016592NIA NIH HHS R01 AG020098NIA NIH HHS R01 AG020132NIA NIH HHS R01 AG021593NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG027058NIA NIH HHS R01 AG030678NIA NIH HHS R01AG030678NIA NIH HHS R01 AG032098NIA NIH HHS R01AG20132NIA NIH HHS R01AG21593NIA NIH HHS R56 AG020098NIA NIH HHS R56 AG023629NICHD NIH HHS HD-061437NICHD NIH HHS HD-062783NICHD NIH HHS R03 HD061437NICHD NIH HHS R03 HD062783NIDDK NIH HHS DK063491NIDDK NIH HHS P30 DK063491Wellcome Trust
6 · The paper itself

Abstract

Leukocyte telomere length (LTL) is associated with a number of common age-related diseases and is a heritable trait. Previous genome-wide association studies (GWASs) identified two loci on chromosomes 3q26.2 (TERC) and 10q24.33 (OBFC1) that are associated with the inter-individual LTL variation. We performed a meta-analysis of 9190 individuals from six independent GWAS and validated our findings in 2226 individuals from four additional studies. We confirmed previously reported associations with OBFC1 (rs9419958 P = 9.1 × 10(-11)) and with the telomerase RNA component TERC (rs1317082, P = 1.1 × 10(-8)). We also identified two novel genomic regions associated with LTL variation that map near a conserved telomere maintenance complex component 1 (CTC1; rs3027234, P = 3.6 × 10(-8)) on chromosome17p13.1 and zinc finger protein 676 (ZNF676; rs412658, P = 3.3 × 10(-8)) on 19p12. The minor allele of rs3027234 was associated with both shorter LTL and lower expression of CTC1. Our findings are consistent with the recent observations that point mutations in CTC1 cause short telomeres in both Arabidopsis and humans affected by a rare Mendelian syndrome. Overall, our results provide novel insights into the genetic architecture of inter-individual LTL variation in the general population.

Indexed as

Genome-Wide Association StudyHumansKruppel-Like Transcription FactorsTelomereTelomere-Binding ProteinsTelomere HomeostasisCtc1 protein, humanKruppel-Like Transcription FactorsTelomere-Binding ProteinsZNF674 protein, human

Identifiers

PMID23001564
PMCPMC3510758
OpenAlexW2097870615

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.