Theory and practice in quantitative genetics
Open accessAbstract
With the rapid advances in molecular biology, the near completion of the human genome, the development of appropriate statistical genetic methods and the availability of the necessary computing power, the identification of quantitative trait loci has now become a realistic prospect for quantitative geneticists. We briefly describe the theoretical biometrical foundations underlying quantitative genetics. These theoretical underpinnings are translated into mathematical equations that allow the assessment of the contribution of observed (using DNA samples) and unobserved (using known genetic relationships) genetic variation to population variance in quantitative traits. Several statistical models for quantitative genetic analyses are described, such as models for the classical twin design, multivariate and longitudinal genetic analyses, extended twin analyses, and linkage and association analyses. For each, we show how the theoretical biometrical model can be translated into algebraic equations that may be used to generate scripts for statistical genetic software packages, such as Mx, Lisrel, SOLAR, or MERLIN. For using the former program a web-library (available from http://www.psy.vu.nl/mxbib) has been developed of freely available scripts that can be used to conduct all genetic analyses described in this paper.
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Since both shared environmental (C) and non-additive genetic (D) influences rely on the same information (the difference between MZ and DZ twin correlations), it is impossible to estimate them simultaneously in an ACDE model using data from only twin pairs reared together.
“Since both (C) and (D) rely on the same information (the difference between MZ and DZ twin correlations), it is impossible to estimate them simultaneously (in an ACDE model) using data from only twin pairs reared together”
From Genetic and environmental influences on impulsivity: A meta-analysis of twin, family and adoption studies (2011) · cites this paper as Posthuma et al., 2003
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“Finally, the contribution of the nonshared environmental influences can be obtained by subtracting the MZ correlation from unit correlation (e2 = 1– rMZ) (Posthuma et al., 2003).”
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- Authors
- Posthuma, D., Beem, A. L., de Geus, E. J. C., van Baal, G. C. M., von Hjelmborg, J. B., Iachine, I., & Boomsma, D. I.
- Affiliations
- Vrije Universiteit Amsterdam (NL)
- University of Southern Denmark (DK)
- ORCID
- Boomsma, Dorret I.
- Venue
- Twin Research
- Publisher
- Cambridge University Press (CUP)
- Published
- 2003-10-01
- Volume
- 6
- Issue
- 5
- Pages
- 361-376
- ISSN
- 1369-0523 (ISSN-L)
- 0000-0000
- OpenAlex
- W2120568930
- Cited by
- 416
- References
- 113
- Citations by year
- 2026: 8 · 2025: 9 · 2024: 14 · 2023: 13 · 2022: 13 · 2021: 9 · 2020: 24 · 2019: 11 · 2018: 12 · 2017: 23 · 2016: 20 · 2015: 23 · 2014: 20 · 2013: 17 · 2012: 16
- FWCI
- 6.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Twin Research (publishedVersion)
- PubMed (publishedVersion)
- VU Research Portal (publishedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- European Commission (01254)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- quantitative genetics, quantitative trait loci, genetic variance components, multivariate genetic analysis, linkage analysis, association analysis, MX, LISREL, solar, Merlin
- MeSH terms
- Humans, Genetic Linkage, Mathematics, Models, Theoretical, Genetic Variation, Multivariate Analysis, Twin Studies as Topic
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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