Evidence map›Paper›PMID 37586323›Full record

ArticleCell reports. Medicine2023

Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.

Ruth Hanssen, Chiara Auwerx, Maarja Jõeloo, Marie C Sadler, Estonian Biobank Research Team, Elana Henning, Julia Keogh, Rebecca Bounds, Miriam Smith, Helen V Firth and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports. Medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
9.1field-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

23 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. [Prenatal ultrasound and genetic characteristics of 60 fetuses with 16p11.2 microdeletion].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026
    Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.International journal of obesity (2005) · 2025
    Article
  12. Review
  13. Article
  14. Review
  15. The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024
    Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
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

14 authors at 8 institutions in 3 countries.

Ruth HanssenUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Chiara AuwerxCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Department of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; University Center for Primary Care and Public Health, 1010 Lausanne, Switzerland.
Maarja JõelooInstitute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia; Estonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Marie C SadlerDepartment of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; University Center for Primary Care and Public Health, 1010 Lausanne, Switzerland.
Estonian Biobank Research TeamEstonian Genome Centre, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Elana HenningUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Julia KeoghUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Rebecca BoundsUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Miriam SmithUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Helen V FirthDepartment of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust & Wellcome Sanger Institute, Cambridge, UK.
Zoltán KutalikDepartment of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland; University Center for Primary Care and Public Health, 1010 Lausanne, Switzerland.
I Sadaf FarooqiUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: isf20@cam.ac.uk.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address: alexandre.reymond@unil.ch.
Katherine LawlerUniversity of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: kl229@cam.ac.uk.
SIB Swiss Institute of Bioinformatics · CHUniversity of Cambridge · GBWellcome/MRC Institute of Metabolic Science · GBAddenbrooke's Hospital · GBCambridge University Hospitals NHS Foundation Trust · GBNIHR Cambridge Biomedical Research CentreUniversity of Lausanne · CHUniversity of Tartu · EE

Funding

Wellcome Trust
6 · The paper itself

Abstract

New approaches are needed to treat people whose obesity and type 2 diabetes (T2D) are driven by specific mechanisms. We investigate a deletion on chromosome 16p11.2 (breakpoint 2-3 [BP2-3]) encompassing SH2B1, a mediator of leptin and insulin signaling. Phenome-wide association scans in the UK (N = 502,399) and Estonian (N = 208,360) biobanks show that deletion carriers have increased body mass index (BMI; p = 1.3 × 10

Indexed as

Diabetes Mellitus, Type 2InsulinsMetabolic DiseasesAdaptor Proteins, Signal TransducingHumansLeptinObesityAdaptor Proteins, Signal TransducingInsulinsLeptinSH2B1 protein, human16p11.2CNVsobesityprecision medicineSH2B1type 2 diabetesUK Biobank

Identifiers

PMID37586323
PMCPMC10439272
OpenAlexW4385841271

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.