Evidence map›Paper›PMID 34315631›Full record

ReviewTrends in genetics : TIG2021

Gaining insight into metabolic diseases from human genetic discoveries.

Melina Claussnitzer, Katalin Susztak

Open access · greenAbstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.5field-weighted citation impact, top 7% 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

19 citing papers in PubMed, 29 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Endosomal Mechanisms in Heart Failure Pathophysiology.Current heart failure reports · 2025
    Review
  5. Review
  6. Article
  7. Review
  8. Review
  9. Article
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  11. Epigenomic insights into common human disease pathology.Cellular and molecular life sciences : CMLS · 2024
    Review
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  14. Article
  15. Article
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  18. Review
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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

2 authors at 2 institutions in 1 country.

Melina ClaussnitzerBeth Israel Deaconess Medical Center, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: melina@broadinstitute.org.
Katalin SusztakDepartment of Medicine and Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: ksusztak@pennmedicine.upenn.edu.
Broad Institute · USUniversity of Pennsylvania · US

Funding

Bridging the gap between type 2 diabetes GWAS and therapeutic targetsUM1DK126185 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CLAUSSNITZER, MELINA C, GLOYN, ANNA LOUISE · 2020 to 2024
$9.5M
Role of the Notch Pathway in Kidney InjuryR01DK076077 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2007 to 2026
$8.0M
APOL1 associated kidney diseaseR01DK105821 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2016 to 2024
$4.6M
Transcriptional Mechanisms of Human Insulin ResistanceR01DK102173 · NIDDK · BETH ISRAEL DEACONESS MEDICAL CENTER · PI ROSEN, EVAN D · 2015 to 2022
$4.4M
NIDDK NIH HHS R01 DK076077NIDDK NIH HHS R01 DK08635NIDDK NIH HHS R01 DK102173NIDDK NIH HHS R01 DK105821NIDDK NIH HHS UM1 DK126185
6 · The paper itself

Abstract

Human large-scale genetic association studies have identified sequence variations at thousands of genetic risk loci that are more common in patients with diverse metabolic disease compared with healthy controls. While these genetic associations have been replicated in multiple large cohorts and sometimes can explain up to 50% of heritability, the molecular and cellular mechanisms affected by common genetic variation associated with metabolic disease remains mostly unknown. A variety of new genome-wide data types, in conjunction with novel biostatistical and computational analytical methodologies and foundational experimental technologies, are paving the way for a principled approach to systematic variant-to-function (V2F) studies for metabolic diseases, turning associated regions into causal variants, cell types and states of action, effector genes, and cellular and physiological mechanisms. Identification of new target genes and cellular programs for metabolic risk loci will improve mechanistic understanding of disease biology and identification of novel therapeutic strategies.

Indexed as

Genome-Wide Association StudyMetabolic DiseasesGenetic Association StudiesGenetic LociGenetic Predisposition to DiseaseGenetic VariationHuman GeneticsHumansPolymorphism, Single Nucleotidecommon variantsepigeneticsfunctional annotationgenetic variantsGWAS

Identifiers

PMID34315631
PMCPMC8578350
OpenAlexW3183464651

What OpenQuestion holds

Textmetadata
LicenceTDM
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.