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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association for the Advancement of Science
2020
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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. |
format | Online Article Text |
id | pubmed-7159920 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | American Association for the Advancement of Science |
record_format | MEDLINE/PubMed |
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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