Evidence map›Paper›PMID 30575761›Full record

ArticleScientific reports2018

Detecting the dominance component of heritability in isolated and outbred human populations.

Anthony F Herzig, Teresa Nutile, Daniela Ruggiero, Marina Ciullo, Hervé Perdry, Anne-Louise Leutenegger

Abstract read
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
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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

6 authors.

Anthony F HerzigInserm, U946, Genetic variation and Human diseases, Paris, France. anthony.herzig@inserm.fr.ORCID http://orcid.org/0000-0001-9392-9924
Teresa NutileInstitute of Genetics and Biophysics A. Buzzati-Traverso - CNR, Naples, Italy.ORCID http://orcid.org/0000-0001-7062-8352
Daniela RuggieroInstitute of Genetics and Biophysics A. Buzzati-Traverso - CNR, Naples, Italy.ORCID http://orcid.org/0000-0003-3898-7827
Marina CiulloInstitute of Genetics and Biophysics A. Buzzati-Traverso - CNR, Naples, Italy. marina.ciullo@igb.cnr.it.ORCID http://orcid.org/0000-0002-9621-9984
Hervé PerdryUniversité Paris-Saclay, University. Paris-Sud, Inserm, CESP, Villejuif, France.ORCID http://orcid.org/0000-0001-7570-1678
Anne-Louise LeuteneggerInserm, U946, Genetic variation and Human diseases, Paris, France.ORCID http://orcid.org/0000-0002-1302-4357

Funding

Fondation pour la Recherche Médicale (Foundation for Medical Research in France) FRM FDT201805005384
6 · The paper itself

Abstract

Inconsistencies between published estimates of dominance heritability between studies of human genetic isolates and human outbred populations incite investigation into whether such differences result from particular trait architectures or specific population structures. We analyse simulated datasets, characteristic of genetic isolates and of unrelated individuals, before analysing the isolate of Cilento for various commonly studied traits. We show the strengths of using genetic relationship matrices for variance decomposition over identity-by-descent based methods in a population isolate and that heritability estimates in isolates will avoid the downward biases that may occur in studies of samples of unrelated individuals; irrespective of the simulated distribution of causal variants. Yet, we also show that precise estimates of dominance in isolates are demonstrably problematic in the presence of shared environmental effects and such effects should be accounted for. Nevertheless, we demonstrate how studying isolates can help determine the existence or non-existence of dominance for complex traits, and we find strong indications of non-zero dominance for low-density lipoprotein level in Cilento. Finally, we recommend future study designs to analyse trait variance decomposition from ensemble data across multiple population isolates.

Indexed as

Quantitative Trait, HeritableReproductive IsolationGenes, DominantGenetic VariationHumansModels, GeneticModels, TheoreticalMultifactorial InheritancePhenotypePopulation DynamicsReproduction

Identifiers

PMID30575761
PMCPMC6303332

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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.