Evidence map›Paper›PMID 37208942›Full record

ArticleThe Journal of physiology2023

Genome-wide association studies: utility and limitations for research in physiology.

Nicolas Pereira Ciochetti, Beatriz Lugli-Moraes, Bruna Santos da Silva, Diego Luiz Rovaris

Abstract read
In one paragraph

Article in The Journal of physiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–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

13 citing papers in PubMed.

  1. Article
  2. Review
  3. Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Promoter hypomethylation ofFrontiers in genetics · 2026
    Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. 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

4 authors.

Nicolas Pereira CiochettiLaboratory of Physiological Genomics of Mental Health (PhysioGen Lab), Instituto de Ciencias Biomedicas Universidade de Sao Paulo, São Paulo, Brazil.
Beatriz Lugli-MoraesLaboratory of Physiological Genomics of Mental Health (PhysioGen Lab), Instituto de Ciencias Biomedicas Universidade de Sao Paulo, São Paulo, Brazil.
Bruna Santos da SilvaLaboratory of Physiological Genomics of Mental Health (PhysioGen Lab), Instituto de Ciencias Biomedicas Universidade de Sao Paulo, São Paulo, Brazil.
Diego Luiz RovarisLaboratory of Physiological Genomics of Mental Health (PhysioGen Lab), Instituto de Ciencias Biomedicas Universidade de Sao Paulo, São Paulo, Brazil.ORCID 0000-0002-8910-4927

Funding

The biological connection between educational attainment and attention-deficit/hyperactivity disorder in contrasting environmentsR01MH131013 · NIMH · UNIVERSITY OF SAO PAULO · PI DIEGO LUIZ ROVARIS · 2022 to 2026
$2.7M
NIMH NIH HHS R01 MH131013NIMH NIH HHS R01MH131013
6 · The paper itself

Abstract

Physiological systems are subject to interindividual variation encoded by genetics. Genome-wide association studies (GWAS) operate by surveying thousands of genetic variants from a substantial number of individuals and assessing their association to a trait of interest, be it a physiological variable, a molecular phenotype (e.g. gene expression), or even a disease or condition. Through a myriad of methods, GWAS downstream analyses then explore the functional consequences of each variant and attempt to ascertain a causal relationship to the phenotype of interest, as well as to delve into its links to other traits. This type of investigation allows mechanistic insights into physiological functions, pathological disturbances and shared biological processes between traits (i.e. pleiotropy). An exciting example is the discovery of a new thyroid hormone transporter (SLC17A4) and hormone metabolising enzyme (AADAT) from a GWAS on free thyroxine levels. Therefore, GWAS have substantially contributed with insights into physiology and have been shown to be useful in unveiling the genetic control underlying complex traits and pathological conditions; they will continue to do so with global collaborations and advances in genotyping technology. Finally, the increasing number of trans-ancestry GWAS and initiatives to include ancestry diversity in genomics will boost the power for discoveries, making them also applicable to non-European populations.

Indexed as

Genome-Wide Association StudyGenomicsGene Expression RegulationPhenotypePolymorphism, Single Nucleotideendophenotypefine-mappinggenomicsGWASheritabilitypleiotropypolygenic scorestrans-ancestry

Identifiers

PMID37208942
PMCPMC10527550

What OpenQuestion holds

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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.