Evidence map›Paper›PMID 36427280›Full record

ArticleInternational journal of epidemiology2023

How to estimate heritability: a guide for genetic epidemiologists.

Ciarrah-Jane S Barry, Venexia M Walker, Rosa Cheesman, George Davey Smith, Tim T Morris, Neil M Davies

Erratum issuedAbstract read
In one paragraph

Article in International journal of epidemiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 25 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing 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

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

  1. Pooled it
  2. Pooled it
  3. Estimating on-farm genotypic performance and variability using ranking data.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
    Article
  4. Review
  5. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
    Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Sex differences in LDL-C genetic architecture and statin efficacy in All of Us.medRxiv : the preprint server for health sciences · 2026
    Article
  13. Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Ciarrah-Jane S BarryMedical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0002-2088-0442
Venexia M WalkerMedical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0001-5064-446X
Rosa CheesmanPROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway.
George Davey SmithMedical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0002-1407-8314
Tim T MorrisMedical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0001-8178-6815
Neil M DaviesMedical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0002-2460-0508

Funding

Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_00032/1Wellcome TrustWellcome Trust 218495/Z/19/Z
6 · The paper itself

Abstract

Traditionally, heritability has been estimated using family-based methods such as twin studies. Advancements in molecular genomics have facilitated the development of methods that use large samples of (unrelated or related) genotyped individuals. Here, we provide an overview of common methods applied in genetic epidemiology to estimate heritability, i.e. the proportion of phenotypic variation explained by genetic variation. We provide a guide to key genetic concepts required to understand heritability estimation methods from family-based designs (twin and family studies), genomic designs based on unrelated individuals [linkage disequilibrium score regression, genomic relatedness restricted maximum-likelihood (GREML) estimation] and family-based genomic designs (sibling regression, GREML-kinship, trio-genome-wide complex trait analysis, maternal-genome-wide complex trait analysis, relatedness disequilibrium regression). We describe how heritability is estimated for each method and the assumptions underlying its estimation, and discuss the implications when these assumptions are not met. We further discuss the benefits and limitations of estimating heritability within samples of unrelated individuals compared with samples of related individuals. Overall, this article is intended to help the reader determine the circumstances when each method would be appropriate and why.

Indexed as

EpidemiologistsTwinsGenome, HumanGenome-Wide Association StudyGenotypeHumansModels, GeneticPhenotypePolymorphism, Single NucleotideQuantitative Trait Lociepidemiologic methodsgenome-wide association studyheritabilityHuman geneticshuman genometwin study

Identifiers

PMID36427280
PMCPMC10114051

What OpenQuestion holds

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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.