ArticleResearch square2023
Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.
Soo Heon Kwak, Shylaja Srinivasan, Ling Chen, Jennifer Todd, Josep Mercader, Elizabeth Jensen, Jasmin Divers, Amy Mottl, Catherine Pihoker, Rachelle Gandica and 7 more
Open access · greenAbstract readPreprint
In one paragraphArticle in Research square, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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1 · What the graph read from itWhat 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 registryThe trial behind it
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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 literatureWho cites it
0 citing papers in PubMed, 1 citations in OpenAlex.
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
17 authors at 12 institutions in 3 countries.
Shylaja SrinivasanUniversity of California at San Francisco.
Ling ChenDiabetes Research Center (Diabetes Unit), Department of Medicine, Massachusetts General Hospital.
Jennifer ToddUniversity of Vermont.
Elizabeth JensenWake Forest School of Medicine.
Jasmin DiversNYU Langone Health.
Amy MottlUniversity of North Carolina.
Catherine PihokerSeattle Children's Hospital.
Rachelle GandicaColumbia University Irving Medical Center.
Lori LaffelJoslin Diabetes Center.
Elvira IsganaitisJoslin Diabetes Center.
Morey HaymondBaylor College of Medicine.
Lynne LevitskyMassachusetts General Hospital for Children.
Toni PollinUniversity of Maryland School of Medicine.
Massachusetts General Hospital · USBroad Institute · USJoslin Diabetes Center · USBaylor College of Medicine · USColumbia University Irving Medical Center · USHinge Health · USSeattle Children's Hospital · USSeoul National University · KRUniversity of California, San Francisco · USUniversity of Maryland, Baltimore · USUniversity of Vermont · USWake Forest University · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MTreatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) StudyU01DK061230 · NIDDK · GEORGE WASHINGTON UNIVERSITY · PI BRAFFETT, BARBARA HALINA, ZEITLER, PHILIP S. · 2001 to 2019
$231.8MHARVARD CLINICAL AND TRANSLATIONAL SCIENCE CENTER (UL1)UL1RR025758 · NCRR · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2008 to 2011
$91.4MZOPOLRESTAT IN NORMOTENSIVE, TYPE 1 DIA WITH INCIPIENT NEPHROPATHYM01RR000043 · NCRR · UNIVERSITY OF SOUTHERN CALIFORNIA · PI ZAIA, JOHN A · 1985 to 2010
$76.4MUNIVERSITY OF PITTSBURGH CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTE: BPCAUL1RR024153 · NCRR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E · 2006 to 2011
$73.9MINSTITUTIONAL CLINICAL AND TRANSLATIONAL SCIENCE AWARDUL1RR024134 · NCRR · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2006 to 2011
$70.4MCTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR025780 · NCRR · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2008 to 2011
$61.3MYALE UNIVERSITY CLINICAL AND TRANSLATIONAL SCIENCE AWARD PROGRAMUL1RR024139 · NCRR · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2006 to 2011
$56.8MCTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024989 · NCRR · CASE WESTERN RESERVE UNIVERSITY · PI DAVIS, PAMELA B · 2007 to 2011
$53.7MSPECIAL ASSAY COREP30DK036836 · NIDDK · JOSLIN DIABETES CENTER · PI Alessandro Doria · 1986 to 2026
$50.5MInstitute of Translational Health SciencesUL1TR000423 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$49.4MWashington University Institute of Clinical and Translational Sciences (UL1)UL1RR024992 · NCRR · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2007 to 2011
$45.4MHSRD VA HIR 10-001NCATS NIH HHS UL1 TR000062NCATS NIH HHS UL1 TR000077NCATS NIH HHS UL1 TR000154NCATS NIH HHS UL1 TR000423NCATS NIH HHS UL1 TR001425NCATS NIH HHS UL1 TR001450NCATS NIH HHS UM1 TR004528NCCDPHP CDC HHS U01 DP000244NCCDPHP CDC HHS U01 DP000246NCCDPHP CDC HHS U01 DP000247NCCDPHP CDC HHS U01 DP000248NCCDPHP CDC HHS U01 DP000250NCCDPHP CDC HHS U01 DP000254NCCDPHP CDC HHS U18 DP002708NCCDPHP CDC HHS U18 DP002709NCCDPHP CDC HHS U18 DP002710NCCDPHP CDC HHS U18 DP002714NCCDPHP CDC HHS U18 DP006131NCCDPHP CDC HHS U18 DP006133NCCDPHP CDC HHS U18 DP006134NCCDPHP CDC HHS U18 DP006136NCCDPHP CDC HHS U18 DP006138NCCDPHP CDC HHS U18 DP006139NCRR NIH HHS M01 RR000036NCRR NIH HHS M01 RR000043NCRR NIH HHS M01 RR000069NCRR NIH HHS M01 RR000084NCRR NIH HHS M01 RR000125NCRR NIH HHS M01 RR001066NCRR NIH HHS M01 RR014467NCRR NIH HHS UL1 RR024134NCRR NIH HHS UL1 RR024139NCRR NIH HHS UL1 RR024153NCRR NIH HHS UL1 RR024989NCRR NIH HHS UL1 RR024992NCRR NIH HHS UL1 RR025758NCRR NIH HHS UL1 RR025780NHGRI NIH HHS U54 HG003067NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS K24 HL157960NHLBI NIH HHS N01 HC025195NIA NIH HHS R01 AG008122NIA NIH HHS R01 AG033193NIDDK NIH HHS K23 DK120932NIDDK NIH HHS P30 DK036836NIDDK NIH HHS P30 DK057516NIDDK NIH HHS R01 DK078616NIDDK NIH HHS R01 DK125490NIDDK NIH HHS U01 DK061212NIDDK NIH HHS U01 DK061230NIDDK NIH HHS U01 DK061239NIDDK NIH HHS U01 DK061242NIDDK NIH HHS U01 DK061254NIDDK NIH HHS U01 DK085526NIDDK NIH HHS U01 DK105554NIDDK NIH HHS U01 DK133095NIDDK NIH HHS UC4 DK108173NINDS NIH HHS R01 NS017950
6 · The paper itselfAbstract
Youth-onset type 2 diabetes (T2D) is a growing public health concern. Its genetic basis and relationship to other forms of diabetes are largely unknown. To gain insight into the genetic architecture and biology of youth-onset T2D, we analyzed exome sequences of 3,005 youth-onset T2D cases and 9,777 ancestry matched adult controls. We identified (a) monogenic diabetes variants in 2.1% of individuals; (b) two exome-wide significant (
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PMCPMC10246295
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