Evidence map›Paper›PMID 29303622›Full record

ArticleUpsala journal of medical sciences2017

Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.

Prasad G Kamble, Stefan Gustafsson, Maria J Pereira, Per Lundkvist, Naomi Cook, Lars Lind, Paul W Franks, Tove Fall, Jan W Eriksson, Erik Ingelsson

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Upsala journal of medical sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Observational
  3. Effects Of PPARγ2 Pro12Ala Variant On Adipocyte Phenotype Dependent Of DHA.Diabetes, metabolic syndrome and obesity : targets and therapy · 2019
    Article
  4. Genotype-Based Recall Studies in Complex Cardiometabolic Traits.Circulation. Genomic and precision medicine · 2018
    Review
  5. 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

10 authors at 4 institutions in 2 countries.

Prasad G Kamblea Department of Medical Sciences, Clinical Diabetes and Metabolism , Uppsala University , Sweden.
Stefan Gustafssonb Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory , Uppsala University , Sweden.
Maria J Pereiraa Department of Medical Sciences, Clinical Diabetes and Metabolism , Uppsala University , Sweden.
Per Lundkvista Department of Medical Sciences, Clinical Diabetes and Metabolism , Uppsala University , Sweden.
Naomi Cookb Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory , Uppsala University , Sweden.
Lars Lindc Department of Medical Sciences, Molecular Epidemiology, EpiHealth , Uppsala University , Sweden.
Paul W Franksd Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit , Lund University Diabetes Centre , Malmö , Sweden.
Tove Fallb Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory , Uppsala University , Sweden.
Jan W Erikssona Department of Medical Sciences, Clinical Diabetes and Metabolism , Uppsala University , Sweden.
Erik Ingelssonb Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory , Uppsala University , Sweden.
Uppsala University · SELund University · SEScience for Life Laboratory · SEStanford University · US

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

aimTo assess practical implications of genotype-based recall (GBR) studies, an increasingly popular approach for in-depth characterization of genotype-phenotype relationships.

methodsWe genotyped 2500 participants from the Swedish EpiHealth cohort and considered loss-of-function and missense variants in genes with relation to cardiometabolic traits as the basis for our GBR study. Therefore, we focused on carriers and non-carriers of the PPARG Pro12Ala (rs1801282) variant, as it is a relatively common variant with a minor allele frequency (MAF) of 0.14. It has also been shown to affect ligand binding and transcription, and carriage of the minor allele (Ala12) is associated with a reduced risk of type 2 diabetes. We re-invited 39 Pro12Pro, 34 Pro12Ala, and 30 Ala12Ala carriers and performed detailed anthropometric and serological assessments.

resultsThe participation rates in the GBR study were 31%, 44%, and 40%, and accordingly we included 12, 15, and 13 individuals with Pro12Pro, Pro12Ala, and Ala12Ala variants, respectively. There were no differences in anthropometric or metabolic variables among the different genotype groups.

conclusionsOur report highlights that from a practical perspective, GBR can be used to study genotype-phenotype relationships. This approach can prove to be a valuable tool for follow-up findings from large-scale genetic discovery studies by undertaking detailed phenotyping procedures that might not be feasible in large studies. However, our study also illustrates the need for a larger pool of genotyped or sequenced individuals to allow for selection of rare variants with larger effects that can be examined in a GBR study of the present size.

Indexed as

AgedFemaleGenome-Wide Association StudyGenotypeHeterozygoteHumansMaleMiddle AgedPhenotypePilot ProjectsPPAR gammaPPAR gammaGenotype-based recallmetabolismPPARG Pro12Ala

Identifiers

PMID29303622
PMCPMC5810227
OpenAlexW2781782744

What OpenQuestion holds

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LicenceCC BY
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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.