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Population phenomena inflate genetic associations of complex social traits

Heritability, genetic correlation, and genetic associations estimated from samples of unrelated individuals are often perceived as confirmation that genotype causes the phenotype(s). However, these estimates can arise from indirect mechanisms due to population phenomena including population stratifi...

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Autores principales: Morris, Tim T., Davies, Neil M., Hemani, Gibran, Smith, George Davey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159920/
https://www.ncbi.nlm.nih.gov/pubmed/32426451
http://dx.doi.org/10.1126/sciadv.aay0328
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author Morris, Tim T.
Davies, Neil M.
Hemani, Gibran
Smith, George Davey
author_facet Morris, Tim T.
Davies, Neil M.
Hemani, Gibran
Smith, George Davey
author_sort Morris, Tim T.
collection PubMed
description Heritability, genetic correlation, and genetic associations estimated from samples of unrelated individuals are often perceived as confirmation that genotype causes the phenotype(s). However, these estimates can arise from indirect mechanisms due to population phenomena including population stratification, dynastic effects, and assortative mating. We introduce these, describe how they can bias or inflate genotype-phenotype associations, and demonstrate methods that can be used to assess their presence. Using data on educational achievement and parental socioeconomic position as an exemplar, we demonstrate that both heritability and genetic correlation may be biased estimates of the causal contribution of genotype. These results highlight the limitations of genotype-phenotype estimates obtained from samples of unrelated individuals. Use of these methods in combination with family-based designs may offer researchers greater opportunities to explore the mechanisms driving genotype-phenotype associations and identify factors underlying bias in estimates.
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spelling pubmed-71599202020-05-18 Population phenomena inflate genetic associations of complex social traits Morris, Tim T. Davies, Neil M. Hemani, Gibran Smith, George Davey Sci Adv Research Articles Heritability, genetic correlation, and genetic associations estimated from samples of unrelated individuals are often perceived as confirmation that genotype causes the phenotype(s). However, these estimates can arise from indirect mechanisms due to population phenomena including population stratification, dynastic effects, and assortative mating. We introduce these, describe how they can bias or inflate genotype-phenotype associations, and demonstrate methods that can be used to assess their presence. Using data on educational achievement and parental socioeconomic position as an exemplar, we demonstrate that both heritability and genetic correlation may be biased estimates of the causal contribution of genotype. These results highlight the limitations of genotype-phenotype estimates obtained from samples of unrelated individuals. Use of these methods in combination with family-based designs may offer researchers greater opportunities to explore the mechanisms driving genotype-phenotype associations and identify factors underlying bias in estimates. American Association for the Advancement of Science 2020-04-15 /pmc/articles/PMC7159920/ /pubmed/32426451 http://dx.doi.org/10.1126/sciadv.aay0328 Text en Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution License 4.0 (CC BY). http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Morris, Tim T.
Davies, Neil M.
Hemani, Gibran
Smith, George Davey
Population phenomena inflate genetic associations of complex social traits
title Population phenomena inflate genetic associations of complex social traits
title_full Population phenomena inflate genetic associations of complex social traits
title_fullStr Population phenomena inflate genetic associations of complex social traits
title_full_unstemmed Population phenomena inflate genetic associations of complex social traits
title_short Population phenomena inflate genetic associations of complex social traits
title_sort population phenomena inflate genetic associations of complex social traits
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159920/
https://www.ncbi.nlm.nih.gov/pubmed/32426451
http://dx.doi.org/10.1126/sciadv.aay0328
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