Evidence map›Paper›PMID 38914291›Full record

ReviewMolecular metabolism2024

Untangling the genetics of beta cell dysfunction and death in type 1 diabetes.

Catherine C Robertson, Ruth M Elgamal, Belle A Henry-Kanarek, Peter Arvan, Shuibing Chen, Sangeeta Dhawan, Decio L Eizirik, John S Kaddis, Golnaz Vahedi, Stephen C J Parker and 2 more

Abstract readReview
In one paragraph

Review in Molecular metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Review
  6. Review
  7. Review
  8. Review
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

12 authors.

Catherine C RobertsonDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Ruth M ElgamalDepartment of Pediatrics, University of California, San Diego, La Jolla, CA, USA.
Belle A Henry-KanarekDepartment of Internal Medicine and Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, USA.
Peter ArvanDepartment of Internal Medicine and Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, USA.
Shuibing ChenDepartment of Surgery, Weill Cornell Medicine, New York, NY, USA; Center for Genomic Health, Weill Cornell Medicine, New York, NY, USA.
Sangeeta DhawanDepartment of Translational Research and Cellular Therapeutics, Arthur Riggs Diabetes and Metabolism Research Institute, City of Hope, Duarte, CA, USA.
Decio L EizirikULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.
John S KaddisDepartment of Diabetes and Cancer Discovery Science, Arthur Riggs Diabetes and Metabolism Research Institute, Beckman Research Institute, City of Hope, Duarte, CA, USA.
Golnaz VahediDepartment of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Stephen C J ParkerDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA. Electronic address: scjp@umich.edu.
Kyle J GaultonDepartment of Pediatrics, University of California, San Diego, La Jolla, CA, USA. Electronic address: kgaulton@health.ucsd.edu.
Scott A SoleimanpourDepartment of Internal Medicine and Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI, USA. Electronic address: ssol@umich.edu.

Funding

Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Scott Soleimanpour · 2013 to 2026
$24.3M
Renewal of the Human Islet Research Enhancement Center (HIREC) for the Type-1-Diabetes-Focused Human Islet Research Network (HIRN).U24DK104162 · NIDDK · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI John S. Kaddis, Joyce Carol Niland · 2019 to 2026
$12.3M
Proinsulin Trafficking for Insulin BiosynthesisR01DK048280 · NIDDK · YESHIVA UNIVERSITY · PI ARVAN, PETER · 1994 to 2024
$10.5M
Human Islet Research Network (HIRN) Coordinating CenterU01DK104162 · NIDDK · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI NILAND, JOYCE CAROL · 2014 to 2018
$6.1M
Type 2 diabetes risk variant effects on mitochondrial (patho)physiologyR01DK136671 · NIDDK · JACKSON LABORATORY · PI Scott Soleimanpour, Michael Lee Stitzel · 2023 to 2026
$3.0M
A Stress-Induced Vicious Cycle In The Development of T1DU01DK127747 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ARVAN, PETER, SATIN, LESLIE S. · 2020 to 2023
$2.8M
Cellular Biotechnology Training Program (CBTP) - Years 31-35T32GM145304 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Guizhi Zhu · 2022 to 2026
$2.6M
Control of insulin secretion by mitochondrial fusionR01DK135268 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Brett A Kaufman, Scott Soleimanpour · 2023 to 2026
$2.4M
Regulation of beta-cell homeostasis by DNA methylation and hydroxymethylation.R01DK120523 · NIDDK · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI DHAWAN, SANGEETA · 2019 to 2023
$2.2M
Mediators of mitophagy in the regulation of beta cell functionR01DK108921 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SOLEIMANPOUR, SCOTT · 2016 to 2020
$1.9M
Control of beta cell identity by the mitochondrial life cycleI01BX004444 · VA · VETERANS HEALTH ADMINISTRATION · PI SOLEIMANPOUR, SCOTT · 2020 to 2023
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BLRD VA I01 BX004444NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK048280NIDDK NIH HHS R01 DK108921NIDDK NIH HHS R01 DK120523NIDDK NIH HHS R01 DK135268NIDDK NIH HHS R01 DK136671NIDDK NIH HHS U01 DK104162NIDDK NIH HHS U01 DK127747NIDDK NIH HHS U24 DK104162NIGMS NIH HHS T32 GM145304
6 · The paper itself

Abstract

backgroundType 1 diabetes (T1D) is a complex multi-system disease which arises from both environmental and genetic factors, resulting in the destruction of insulin-producing pancreatic beta cells. Over the past two decades, human genetic studies have provided new insight into the etiology of T1D, including an appreciation for the role of beta cells in their own demise. SCOPE OF REVIEW: Here, we outline models supported by human genetic data for the role of beta cell dysfunction and death in T1D. We highlight the importance of strong evidence linking T1D genetic associations to bona fide candidate genes for mechanistic and therapeutic consideration. To guide rigorous interpretation of genetic associations, we describe molecular profiling approaches, genomic resources, and disease models that may be used to construct variant-to-gene links and to investigate candidate genes and their role in T1D. MAJOR

conclusionsWe profile advances in understanding the genetic causes of beta cell dysfunction and death at individual T1D risk loci. We discuss how genetic risk prediction models can be used to address disease heterogeneity. Further, we present areas where investment will be critical for the future use of genetics to address open questions in the development of new treatment and prevention strategies for T1D.

Indexed as

Diabetes Mellitus, Type 1Insulin-Secreting CellsAnimalsCell DeathGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansApoptosisAutoimmunityGWASIsletQTLSNP

Identifiers

PMID38914291
PMCPMC11283044

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.