Evidence map›Paper›PMID 31557715›Full record

ArticleiScience2019

Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation.

Casimiro Castillejo-Lopez, Milos Pjanic, Anna Chiara Pirona, Susanne Hetty, Martin Wabitsch, Claes Wadelius, Thomas Quertermous, Erik Arner, Erik Ingelsson

Open access · goldAbstract read
In one paragraph

Article in iScience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 35% 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

4 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Detection distribution of CNVs ofFrontiers in veterinary science · 2023
    Article
  4. 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

9 authors at 5 institutions in 4 countries.

Casimiro Castillejo-LopezDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Milos PjanicDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Anna Chiara PironaDepartment of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Susanne HettyDepartment of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Martin WabitschDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, University of Ulm, Ulm, Germany.
Claes WadeliusDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Thomas QuertermousDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA.
Erik ArnerLaboratory for Applied Regulatory Genomics Network Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045 Japan.
Erik IngelssonDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Stanford Diabetes Research Center, Stanford University, Stanford, CA 94305, USA. Electronic address: eriking@stanford.edu.
Science for Life Laboratory · SEStanford University · USRIKEN Center for Integrative Medical Sciences · JPUniversität Ulm · DEUppsala University · SE

Funding

Beyond GWAS of insulin resistance: An integrated approach to translate genetic association to functionR01DK106236 · NIDDK · STANFORD UNIVERSITY · PI KNOWLES, JOSHUA WILEY · 2016 to 2020
$2.4M
NIDDK NIH HHS R01 DK106236
6 · The paper itself

Abstract

We combined CAGE sequencing in human adipocytes during differentiation with data from genome-wide association studies to identify an enhancer in the SNX10 locus on chromosome 7, presumably involved in body fat distribution. Using reporter assays and CRISPR-Cas9 gene editing in human cell lines, we characterized the role of the enhancer in adipogenesis. The enhancer was active during adipogenesis and responded strongly to insulin and isoprenaline. The allele associated with increased waist-hip ratio in human genetic studies was associated with higher enhancer activity. Mutations of the enhancer resulted in less adipocyte differentiation. RNA sequencing of cells with disrupted enhancer showed reduced expression of established adipocyte markers, such as ADIPOQ and LPL, and identified CHI3L1 on chromosome 1 as a potential gene involved in adipocyte differentiation. In conclusion, we identified and characterized an enhancer in the SNX10 locus and outlined its plausible mechanisms of action and downstream targets.

Indexed as

GeneticsHuman GeneticsSpecialized Functions of CellsTranscriptomics

Identifiers

PMID31557715
PMCPMC6817687
OpenAlexW2973124324

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.