Evidence map›Paper›PMID 40912257›Full record

ArticleAmerican journal of human genetics2025

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.

Nikolas A Baya, Ilknur Sur Erdem, Samvida S Venkatesh, Saskia Reibe, Philip D Charles, Elena Navarro-Guerrero, Barney Hill, Frederik H Lassen, Melina Claussnitzer, Duncan S Palmer and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Update on the genetics of allergic diseases.The Journal of allergy and clinical immunology · 2025
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Nikolas A BayaBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. Electronic address: nikolasbaya@gmail.com.
Ilknur Sur ErdemNuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, Oxford, UK; Chinese Academy for Medical Sciences Oxford Institute, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Samvida S VenkateshBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Saskia ReibeBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
Philip D CharlesBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
Elena Navarro-GuerreroTarget Discovery Institute, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Barney HillBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
Frederik H LassenBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Melina ClaussnitzerBroad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of MIT and Harvard, Novo Nordisk Foundation Center for Genomic, Mechanisms of Disease & Type 2 Diabetes Systems Genomics Initiative, Cambridge, MA, USA; Center for Genomic Medicine and Endocrine Division, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Harvard University, Boston, MA, USA.
Duncan S PalmerBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Cecilia M LindgrenBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK; Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK; Nuffield Department of Women's and Reproductive Health, Medical Sciences Division, University of Oxford, Oxford, UK; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: cecilia.m.lindgren@gmail.com.

Funding

ROLE OF DIETARY CONSTITUENTS ON GENE EXPRESSION IN INTESTINAL EPITHELIUMP30DK040561 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Elizabeth Austen Lawson, Takara Leah Stanley · 1994 to 2026
$31.6M
The Massachusetts General Hospital Harvard Center for Reproductive MedicineP50HD104224 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2021 to 2025
$7.8M
Gates Foundation INV-024200NICHD NIH HHS P50 HD104224NIDDK NIH HHS P30 DK040561
6 · The paper itself

Abstract

Overall adiposity and body fat distribution are heritable traits associated with altered risk of cardiometabolic disease and mortality. Performing rare-variant (minor allele frequency <1%) association testing using exome-sequencing data from 402,375 participants of European ancestry in the UK Biobank for nine overall and tissue-specific fat distribution traits, we identified 19 genes where putatively damaging rare variation associated with at least one trait (Bonferroni-adjusted p < 1.58 × 10

Indexed as

AdiposityBody Fat DistributionObesityBody Mass IndexExome SequencingFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideWaist-Hip Ratioadipocyteallelic seriesBMICRISPRexome sequencingfatGWASknockdownobesityUK Biobank

Identifiers

PMID40912257
PMCPMC12696503

What OpenQuestion 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 OpenQuestion graph.