Evidence map›Paper›PMID 23563609›Full record

ArticleNature genetics2013

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

Eleanor Wheeler, Ni Huang, Elena G Bochukova, Julia M Keogh, Sarah Lindsay, Sumedha Garg, Elana Henning, Hannah Blackburn, Ruth J F Loos, Nick J Wareham and 4 more

Open access · greenAbstract readComparative Study
In one paragraph

Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 174 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
174citing papers in PubMed, 9 pooled it
27.8field-weighted citation impact, top 1% 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

174 citing papers in PubMed, 9 syntheses or guidelines pooled it, 326 citations in OpenAlex.

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  11. Leptin-Mediated Changes in the Human Metabolome.The Journal of clinical endocrinology and metabolism · 2020
    Trial
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  14. Role of Oxytocin in Obesity.Current diabetes reports · 2026
    Review
  15. Article
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  20. Copy Number Variation Analysis.Methods in molecular biology (Clifton, N.J.) · 2026
    Article

114 more citing papers are in PubMed but not listed here.

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 3 institutions in 1 country.

Eleanor WheelerWellcome Trust Sanger Institute, Cambridge, UK.
Ni Huang
Elena G Bochukova
Julia M Keogh
Sarah Lindsay
Sumedha Garg
Elana Henning
Hannah Blackburn
Ruth J F Loos
Nick J Wareham
Stephen O'Rahilly
Matthew E Hurles
Inês Barroso
I Sadaf Farooqi
University of Cambridge · GBWellcome Sanger Institute · GBAddenbrooke's Hospital · GB

Funding

RESEARCH EDUCATION PROGRAM ON COMPUTATIONAL AND STATISTICAL TOOL DEVELOPMENT FOR ADDICTION GENETICSR25DA027995 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN, RICE, JOHN P. · 2009 to 2019
$4.3M
Cancer Research UKMedical Research Council G0600717Medical Research Council G0900554Medical Research Council G9824984Medical Research Council MC_U106179471Medical Research Council MC_U106188470Medical Research Council MC_UU_12012/5NIDA NIH HHS R25 DA027995Wellcome Trust 084713Wellcome Trust 098497Wellcome Trust WT098051
6 · The paper itself

Abstract

Common and rare variants associated with body mass index (BMI) and obesity account for <5% of the variance in BMI. We performed SNP and copy number variation (CNV) association analyses in 1,509 children with obesity at the extreme tail (>3 s.d. from the mean) of the BMI distribution and 5,380 controls. Evaluation of 29 SNPs (P < 1 × 10(-5)) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST). A previously reported 43-kb deletion at the NEGR1 locus was significantly associated with severe obesity (P = 6.6 × 10(-7)). However, this signal was entirely driven by a flanking 8-kb deletion; absence of this deletion increased risk for obesity (P = 6.1 × 10(-11)). We found a significant burden of rare, single CNVs in severely obese cases (P < 0.0001). Integrative gene network pathway analysis of rare deletions indicated enrichment of genes affecting G protein-coupled receptors (GPCRs) involved in the neuronal regulation of energy homeostasis.

Indexed as

Genetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyQuantitative Trait LociBody Mass IndexCase-Control StudiesChildDNA Copy Number VariationsGenotypeHumansObesityPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID23563609
PMCPMC4106235
OpenAlexW1990598085

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.