On the genetic interpretation of disease data.
<h4>Background</h4>The understanding of host genetic variation in disease resistance increasingly requires the use of field data to obtain sufficient numbers of phenotypes. We introduce concepts necessary for a genetic interpretation of field disease data, for diseases caused by micropar...
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Public Library of Science (PLoS)
2010-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0008940&type=printable |
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| author | Stephen C Bishop John A Woolliams |
| author_facet | Stephen C Bishop John A Woolliams |
| author_sort | Stephen C Bishop |
| collection | DOAJ |
| description | <h4>Background</h4>The understanding of host genetic variation in disease resistance increasingly requires the use of field data to obtain sufficient numbers of phenotypes. We introduce concepts necessary for a genetic interpretation of field disease data, for diseases caused by microparasites such as bacteria or viruses. Our focus is on variance component estimation and we introduce epidemiological concepts to quantitative genetics.<h4>Methodology/principal findings</h4>We have derived simple deterministic formulae to predict the impacts of incomplete exposure to infection, or imperfect diagnostic test sensitivity and specificity on heritabilities for disease resistance. We show that these factors all reduce the estimable heritabilities. The impacts of incomplete exposure depend on disease prevalence but are relatively linear with the exposure probability. For prevalences less than 0.5, imperfect diagnostic test sensitivity results in a small underestimation of heritability, whereas imperfect specificity leads to a much greater underestimation, with the impact increasing as prevalence declines. These impacts are reversed for prevalences greater than 0.5. Incomplete data recording in which infected or diseased individuals are not observed, e.g. data recording for too short a period, has impacts analogous to imperfect sensitivity.<h4>Conclusions/significance</h4>These results help to explain the often low disease resistance heritabilities observed under field conditions. They also demonstrate that incomplete exposure to infection, or suboptimal diagnoses, are not fatal flaws for demonstrating host genetic differences in resistance, they merely reduce the power of datasets. Lastly, they provide a tool for inferring the true extent of genetic variation in disease resistance given knowledge of the disease biology. |
| format | Article |
| id | doaj-art-a2e0fa8660f848d7b76dcbd49ae0e84e |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Public Library of Science (PLoS) |
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| spelling | doaj-art-a2e0fa8660f848d7b76dcbd49ae0e84e2025-08-20T02:31:50ZengPublic Library of Science (PLoS)PLoS ONE1932-62032010-01-0151e894010.1371/journal.pone.0008940On the genetic interpretation of disease data.Stephen C BishopJohn A Woolliams<h4>Background</h4>The understanding of host genetic variation in disease resistance increasingly requires the use of field data to obtain sufficient numbers of phenotypes. We introduce concepts necessary for a genetic interpretation of field disease data, for diseases caused by microparasites such as bacteria or viruses. Our focus is on variance component estimation and we introduce epidemiological concepts to quantitative genetics.<h4>Methodology/principal findings</h4>We have derived simple deterministic formulae to predict the impacts of incomplete exposure to infection, or imperfect diagnostic test sensitivity and specificity on heritabilities for disease resistance. We show that these factors all reduce the estimable heritabilities. The impacts of incomplete exposure depend on disease prevalence but are relatively linear with the exposure probability. For prevalences less than 0.5, imperfect diagnostic test sensitivity results in a small underestimation of heritability, whereas imperfect specificity leads to a much greater underestimation, with the impact increasing as prevalence declines. These impacts are reversed for prevalences greater than 0.5. Incomplete data recording in which infected or diseased individuals are not observed, e.g. data recording for too short a period, has impacts analogous to imperfect sensitivity.<h4>Conclusions/significance</h4>These results help to explain the often low disease resistance heritabilities observed under field conditions. They also demonstrate that incomplete exposure to infection, or suboptimal diagnoses, are not fatal flaws for demonstrating host genetic differences in resistance, they merely reduce the power of datasets. Lastly, they provide a tool for inferring the true extent of genetic variation in disease resistance given knowledge of the disease biology.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0008940&type=printable |
| spellingShingle | Stephen C Bishop John A Woolliams On the genetic interpretation of disease data. PLoS ONE |
| title | On the genetic interpretation of disease data. |
| title_full | On the genetic interpretation of disease data. |
| title_fullStr | On the genetic interpretation of disease data. |
| title_full_unstemmed | On the genetic interpretation of disease data. |
| title_short | On the genetic interpretation of disease data. |
| title_sort | on the genetic interpretation of disease data |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0008940&type=printable |
| work_keys_str_mv | AT stephencbishop onthegeneticinterpretationofdiseasedata AT johnawoolliams onthegeneticinterpretationofdiseasedata |