Evidence map›Paper›PMID 32470372›Full record

ArticleAmerican journal of human genetics2020

Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases.

Juan R González, Carlos Ruiz-Arenas, Alejandro Cáceres, Ignasi Morán, Marcos López-Sánchez, Lorena Alonso, Ignacio Tolosana, Marta Guindo-Martínez, Josep M Mercader, Tonu Esko and 3 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 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

16 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
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  5. Review
  6. Article
  7. Article
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  11. Asthma-Genomic Advances Toward Risk Prediction.Clinics in chest medicine · 2024
    Review
  12. Review
  13. Article
  14. Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022
    Review
  15. Article
  16. 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

13 authors.

Juan R GonzálezBarcelona Institute for Global Health (ISGlobal), Barcelona 08003, Spain; IMIM (Hospital del Mar Research Institute), Barcelona 08003, Spain; Centro de Investigación Biomédica en Red en Epidemiologia y Salud Pública (CIBERESP), Barcelona 08003, Spain; Department of Mathematics, Universitat Autònoma de Barcelona (UAB), Barcelona 08193, Spain. Electronic address: juanr.gonzalez@isglobal.org.
Carlos Ruiz-ArenasBarcelona Institute for Global Health (ISGlobal), Barcelona 08003, Spain; IMIM (Hospital del Mar Research Institute), Barcelona 08003, Spain.
Alejandro CáceresBarcelona Institute for Global Health (ISGlobal), Barcelona 08003, Spain; IMIM (Hospital del Mar Research Institute), Barcelona 08003, Spain; Centro de Investigación Biomédica en Red en Epidemiologia y Salud Pública (CIBERESP), Barcelona 08003, Spain.
Ignasi MoránJoint BSC-CRG-IRB Research Program in Computational Biology, Barcelona Supercomputing Center (BSC-CNS), Barcelona 08034, Spain.
Marcos López-SánchezDepartment of Experimental and Health Sciences (CEXS), Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona 08003, Spain.
Lorena AlonsoJoint BSC-CRG-IRB Research Program in Computational Biology, Barcelona Supercomputing Center (BSC-CNS), Barcelona 08034, Spain.
Ignacio TolosanaBarcelona Institute for Global Health (ISGlobal), Barcelona 08003, Spain.
Marta Guindo-MartínezJoint BSC-CRG-IRB Research Program in Computational Biology, Barcelona Supercomputing Center (BSC-CNS), Barcelona 08034, Spain.
Josep M MercaderJoint BSC-CRG-IRB Research Program in Computational Biology, Barcelona Supercomputing Center (BSC-CNS), Barcelona 08034, Spain; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
Tonu EskoEstonian Genome Center, University of Tartu, Tartu 51010, Estonia; Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia.
David TorrentsJoint BSC-CRG-IRB Research Program in Computational Biology, Barcelona Supercomputing Center (BSC-CNS), Barcelona 08034, Spain; Institució Catalana de Recerca i Estudis Avancats (ICREA), Barcelona 08003, Spain.
Josefa GonzálezInstitute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra), Barcelona 08003, Spain.
Luis A Pérez-JuradoIMIM (Hospital del Mar Research Institute), Barcelona 08003, Spain; Department of Experimental and Health Sciences (CEXS), Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona 08003, Spain; Women's and Children's Hospital, South Australian Health and Medical Research Institute & University of Adelaide, Adelaide, SA 5005, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The burden of several common diseases including obesity, diabetes, hypertension, asthma, and depression is increasing in most world populations. However, the mechanisms underlying the numerous epidemiological and genetic correlations among these disorders remain largely unknown. We investigated whether common polymorphic inversions underlie the shared genetic influence of these disorders. We performed an inversion association analysis including 21 inversions and 25 obesity-related traits on a total of 408,898 Europeans and validated the results in 67,299 independent individuals. Seven inversions were associated with multiple diseases while inversions at 8p23.1, 16p11.2, and 11q13.2 were strongly associated with the co-occurrence of obesity with other common diseases. Transcriptome analysis across numerous tissues revealed strong candidate genes for obesity-related traits. Analyses in human pancreatic islets indicated the potential mechanism of inversions in the susceptibility of diabetes by disrupting the cis-regulatory effect of SNPs from their target genes. Our data underscore the role of inversions as major genetic contributors to the joint susceptibility to common complex diseases.

Indexed as

Genetic Predisposition to DiseasePolymorphism, GeneticAdolescentAdultAgedAged, 80 and overAllelesChromosome InversionChromosomes, Human, Pair 16Chromosomes, Human, Pair 8Datasets as TopicDiabetes MellitusEuropeFemaleGene Expression ProfilingHaplotypesasthmacommon diseasesdiabetesdisease co-occurrencegenetic inversionsgenomic variationhuman traitshypertensionobesityobesity-related diseases

Identifiers

PMID32470372
PMCPMC7273535

What OpenQuestion holds

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Registered trials

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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.