ArticleDiabetes2017
A Loss-of-Function Splice Acceptor Variant in
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In one paragraph
Article in Diabetes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 3 pooled it
4.6field-weighted citation impact, top 4% of its field
What it found
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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.
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.
Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.Nature communications · 2025Pooled it
- The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.Diabetologia · 2023Pooled it
- Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.Communications biology · 2022Pooled it
- Trial
- Trial
- Changes in Splicing Machinery Components Influence, Precede, and Early Predict the Development of Type 2 Diabetes: From the CORDIOPREV Study.EBioMedicine · 2018Trial
- A functional missense variant iniScience · 2026Article
- Integrative gene target mapping, RNA sequencing, in silico molecular docking, ADMET profiling and molecular dynamics simulation study of marine derived molecules for type 1 diabetes mellitus.Molecular diversity · 2026Article
- Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.medRxiv : the preprint server for health sciences · 2026Article
- The effect of Indigenous American genomic ancestry on type 2 diabetes in Mexico: an analysis of 134 548 individuals from the Mexico City Prospective Study.The Lancet. Public health · 2026Article
- Health Disparities Among Hispanic Patients With Type 2 Diabetes in the United States: An Educational Workshop.MedEdPORTAL : the journal of teaching and learning resources · 2026Article
- Characterizing the pathogenicity of genetic variants: the consequences of context.NPJ genomic medicine · 2024Article
- Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.Frontiers in endocrinology · 2024Article
- The associations of IGF2, IGF2R and IGF2BP2 gene polymorphisms with gestational diabetes mellitus: A case-control study.PloS one · 2024Article
- Humero-femoral index and diabetes risk in the US population- a case study.Journal of diabetes and metabolic disorders · 2023Article
- Article
- Sex differences in the influence of type 2 diabetes (T2D)-related genes, parental history of T2D, and obesity on T2D development: a case-control study.Biology of sex differences · 2023Article
- Human IGF2 Gene Epigenetic and Transcriptional Regulation: At the Core of Developmental Growth and Tumorigenic Behavior.Biomedicines · 2023Review
- Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Molecular Genetics of Abnormal Redox Homeostasis in Type 2 Diabetes Mellitus.International journal of molecular sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
82 authors at 19 institutions in 5 countries.
Josep M MercaderBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Rachel G LiaoBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Avery D BellDepartment of Genetics, Harvard Medical School, Boston, MA.
Zachary DymekBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Karol EstradaBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Taru TukiainenDepartment of Genetics, Harvard Medical School, Boston, MA.
Alicia Huerta-ChagoyaConsejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Hortensia Moreno-MacíasUnidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Kathleen A JablonskiThe Biostatistics Center, The George Washington University, Rockville, MD.
Robert L HansonPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ.
Geoffrey A WalfordBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Ignasi MoranDepartment of Medicine, Imperial College London, London, U.K.
Ling ChenBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Vineeta AgarwalaProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA.
María Luisa Ordoñez-SánchezConsejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Rosario Rodríguez-GuillenConsejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Maribel Rodríguez-TorresConsejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Yayoi Segura-KatoConsejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Humberto García-OrtizInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Federico Centeno-CruzInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Francisco Barajas-OlmosInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Lizz CaulkinsBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Sobha PuppalaDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, TX.
Pierre FontanillasProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Amy L WilliamsDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY.
Sílvia Bonàs-GuarchBarcelona Supercomputing Center, Joint BSC-CRG-IRB Research Programme in Computational Biology, Barcelona, Spain.
Chris HartlProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Stephan RipkeStanley Center for Psychiatric Research, Broad Institute, Cambridge, MA.
Diabetes Prevention Program Research Group
Katherine TooleyDepartment of Genetics, Harvard Medical School, Boston, MA.
Jacqueline LaneProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Carlos ZerrweckClínica Integral de Cirugía para la Obesidad y Enfermedades Metabólicas, Hospital General Tláhuac, Mexico City, Mexico.
Angélica Martínez-HernándezInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Emilio J CórdovaInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Elvia Mendoza-CaamalInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Cecilia Contreras-CubasInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
María E González-VillalpandoCentro de Estudios en Diabetes, Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Centro de Investigacion en Salud Poblacional, Instituto Nacional de Salud Pública, Mexico City, Mexico.
Ivette Cruz-BautistaDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Liliana Muñoz-HernándezDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Donaji Gómez-VelascoDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Ulises AlvirdeDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Brian E HendersonDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Lynne R WilkensCancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI.
Loic Le MarchandCancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI.
Olimpia Arellano-CamposDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Laura RibaDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Maegan HardenThe Genomics Platform, Broad Institute, Cambridge, MA.
Broad Genomics Platform
Stacey GabrielThe Genomics Platform, Broad Institute, Cambridge, MA.
T2D-GENES Consortium
Hanna E AbboudDepartment of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX.
Maria L CortesBroad Institute, Cambridge, MA.
Cristina Revilla-MonsalveUnidad de Investigación Médica en Enfermedades Metabólicas, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Sergio Islas-AndradeUnidad de Investigación Médica en Enfermedades Metabólicas, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Xavier SoberonInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
Joanne E CurranSouth Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX.
Christopher P JenkinsonSouth Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Edinburg, TX.
Ralph A DeFronzoDivision of Diabetes, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX.ORCID 0000-0002-8581-6273
Donna M LehmanDepartments of Medicine and Cellular & Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX.
Craig L HanisHuman Genetics Center, University of Texas Health Science Center at Houston, Houston, TX.
Graeme I BellDepartment of Medicine, The University of Chicago, Chicago, IL.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI.
John BlangeroSouth Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX.
Ravindranath DuggiralaSouth Texas Diabetes and Obesity Institute, School of Medicine, University of Texas Rio Grande Valley, Edinburg, TX.
Richa SaxenaProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Daniel MacArthurProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Jorge FerrerDepartment of Medicine, Imperial College London, London, U.K.
Steven A McCarrollDepartment of Genetics, Harvard Medical School, Boston, MA.
David TorrentsBarcelona Supercomputing Center, Joint BSC-CRG-IRB Research Programme in Computational Biology, Barcelona, Spain.
William C KnowlerPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ.
Leslie J BaierPhoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ.
Noel BurttBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Clicerio González-VillalpandoCentro de Estudios en Diabetes, Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Centro de Investigacion en Salud Poblacional, Instituto Nacional de Salud Pública, Mexico City, Mexico.
Christopher A HaimanCancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI.
Carlos A Aguilar-SalinasDepartamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Teresa Tusié-LunaUnidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Jason FlannickBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Suzanne B R JacobsBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA.
Lorena OrozcoInstituto Nacional de Medicina Genómica, Mexico City, Mexico.
David AltshulerDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.
Jose C FlorezBroad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA jcflorez@mgh.harvard.edu.ORCID 0000-0002-1730-9325
SIGMA T2D Genetics Consortium
Broad Institute · USInstituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán · MXNational Institute of Genomic Medicine · MXUniversity of Hawaiʻi at Mānoa · USThe University of Texas Health Science Center at San Antonio · USThe University of Texas Rio Grande Valley · USMexican Social Security Institute · MXNational Institutes of Health · USUniversity of Michigan · USBarcelona Supercomputing Center · ESCornell University · USGeorge Washington University · USImperial College London · GBInstitució Catalana de Recerca i Estudis Avançats · ESInstituto Nacional de Salud Pública · MXTexas Biomedical Research Institute · USUniversidad Autónoma Metropolitana · MXUniversity of Chicago · USUniversity of Southern California · US
Funding
PRIMARY PREVENTION TRIAL--DATA COORDINATING CENTERU01DK048489 · NIDDK · GEORGE WASHINGTON UNIVERSITY · PI JABLONSKI, KATHLEEN ANN, TEMPROSA, MARINELLA · 1994 to 2021
$84.8MMedical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0MVector and Transgenic Mouse CoreP30DK017047 · NIDDK · UNIVERSITY OF WASHINGTON · PI Sakeneh Zraika · 1986 to 2026
$41.4MVanderbilt Diabetes Research CenterP30DK020593 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI OWEN P MCGUINNESS · 2012 to 2026
$29.3MTRANSGENIC MOUSE/ ES CELL SHARES RESOURCESP60DK020593 · NIDDK · VANDERBILT UNIVERSITY · PI ELASY, TOM A · 1986 to 2011
$28.1MRegional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MMultiethnic Cohort Study of Diet and CancerR37CA054281 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI KOLONEL, LAURENCE N. · 2003 to 2012
$23.2MPilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI RONALD N COHEN · 2013 to 2026
$20.9MFollow-Up Studies of a Genome-Wide Association Analysis in Pima IndiansZIADK075012 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI BAIER, LESLIE J · 2009 to 2025
$17.9MStructural Analysis Of Candidate Genes For Type 2 Diabetes and ObesityZIADK069071 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI BAIER, LESLIE J · 2009 to 2025
$15.4MVanderbilt Mouse Metabolic Physiology CenterU24DK059637 · NIDDK · VANDERBILT UNIVERSITY · PI WASSERMAN, DAVID H · 2001 to 2015
$14.9MCCR NIH HHS HHSN261200800001CMedical Research Council MR/L02036X/1NCI NIH HHS HHSN261200800001ENCI NIH HHS R01 CA054281NCI NIH HHS R01 CA063464NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA063464NHGRI NIH HHS F32 HG005944NHLBI NIH HHS HHSN268201000029CNIDA NIH HHS R01 DA006227NIDA NIH HHS R01 DA033684NIDDK NIH HHS P30 DK017047NIDDK NIH HHS P30 DK020572NIDDK NIH HHS P30 DK020593NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P60 DK020593NIDDK NIH HHS R01 DK072041NIDDK NIH HHS R01 DK098032NIDDK NIH HHS U01 DK048339NIDDK NIH HHS U01 DK048375NIDDK NIH HHS U01 DK048380NIDDK NIH HHS U01 DK048381NIDDK NIH HHS U01 DK048397NIDDK NIH HHS U01 DK048400NIDDK NIH HHS U01 DK048404NIDDK NIH HHS U01 DK048407NIDDK NIH HHS U01 DK048412NIDDK NIH HHS U01 DK048413NIDDK NIH HHS U01 DK048437NIDDK NIH HHS U01 DK048443NIDDK NIH HHS U01 DK048485NIDDK NIH HHS U01 DK048489NIDDK NIH HHS U01 DK062370NIDDK NIH HHS U01 DK085524NIDDK NIH HHS U24 DK059637NIDDK NIH HHS U2C DK059637NIGMS NIH HHS T32 GM007753NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825
Abstract
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and replicated genome-wide protein coding variation in a total of 8,227 individuals with T2D and 12,966 individuals without T2D of Latino descent. We identified a novel genetic variant in the
Indexed as
Adipose TissueCell LineDiabetes Mellitus, Type 2Gene Expression RegulationGenetic VariationGenotypeHumansInsulin-Like Growth Factor IILiverMexican AmericansMexicoProtein IsoformsRNA Splice SitesStem CellsWhite PeopleIGF2 protein, humanInsulin-Like Growth Factor IIProtein IsoformsRNA Splice Sites
Identifiers
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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 Socratic graph.