Comparison of GWA statistical methods for traits under different genetic structures: A simulation study
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1016/j.livsci.2020.104213 http://hdl.handle.net/11449/199254 |
Resumo: | Several methods have been used to perform genome wide association (GWA) studies, aiming to map quantitative trait loci (QTL) and candidate variants. The single-step genomic best linear unbiased prediction (ssGBLUP) method is one alternative to perform GWA, which allows the simultaneous use of genotypic, pedigree and phenotypic information. Bayesian multiple regression models have also been used to perform GWA, allowing specifying different priori distribution for the molecular marker effects. The aim of the present study was to evaluate, through simulation, the performance of different methods in the identification of QTLs for polygenic and major gene traits, under different heritabilities when only relatively few animals were genotyped. We also investigated the consequence of considering the agreement among results from different methods as a strategy to decrease errors associated with false positives in QTL mapping. For polygenic scenarios, results showed low power to detect QTL, irrespective of the method, and the use of phenotypes from non-genotyped animals slightly helped QTL detection of ssGBLUP and weighted ssGBLUP (wssGBLUP). For scenarios with major gene effects, there was greater power in QTL detection, with a slight superiority of Bayes C over the other methods. The inclusion of additional phenotypic information (from non-genotyped animals) harmed the performance of wssGBLUP in the presence of major QTL. When only consensus regions identified by different methods were considered as evidence of QTL, the percentage of top windows containing a true QTL tended to increase with the number of methods that identified a top window, for all scenarios. However, an important proportion of true QTL were identified only by a single or few methods. Despite the small differences among methods in the QTL detection, for polygenic traits, the ssGBLUP and wssGBLUP methods seemed to show better results in comparison to the other methods mainly in the low heritability scenario. For traits with major gene effects, the Bayes C method is expected to present better results, compared to the other methods evaluated, given a limited number of genotyped animals. The strategy to use agreement of GWA results among methods to map QTL helps to reduce false positives but comes at a cost of missing important QTL, irrespective of the genetic structure of the trait. |
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Comparison of GWA statistical methods for traits under different genetic structures: A simulation studyBayesian methodsGWAQTL mappingweighted single-step GBLUPSeveral methods have been used to perform genome wide association (GWA) studies, aiming to map quantitative trait loci (QTL) and candidate variants. The single-step genomic best linear unbiased prediction (ssGBLUP) method is one alternative to perform GWA, which allows the simultaneous use of genotypic, pedigree and phenotypic information. Bayesian multiple regression models have also been used to perform GWA, allowing specifying different priori distribution for the molecular marker effects. The aim of the present study was to evaluate, through simulation, the performance of different methods in the identification of QTLs for polygenic and major gene traits, under different heritabilities when only relatively few animals were genotyped. We also investigated the consequence of considering the agreement among results from different methods as a strategy to decrease errors associated with false positives in QTL mapping. For polygenic scenarios, results showed low power to detect QTL, irrespective of the method, and the use of phenotypes from non-genotyped animals slightly helped QTL detection of ssGBLUP and weighted ssGBLUP (wssGBLUP). For scenarios with major gene effects, there was greater power in QTL detection, with a slight superiority of Bayes C over the other methods. The inclusion of additional phenotypic information (from non-genotyped animals) harmed the performance of wssGBLUP in the presence of major QTL. When only consensus regions identified by different methods were considered as evidence of QTL, the percentage of top windows containing a true QTL tended to increase with the number of methods that identified a top window, for all scenarios. However, an important proportion of true QTL were identified only by a single or few methods. Despite the small differences among methods in the QTL detection, for polygenic traits, the ssGBLUP and wssGBLUP methods seemed to show better results in comparison to the other methods mainly in the low heritability scenario. For traits with major gene effects, the Bayes C method is expected to present better results, compared to the other methods evaluated, given a limited number of genotyped animals. The strategy to use agreement of GWA results among methods to map QTL helps to reduce false positives but comes at a cost of missing important QTL, irrespective of the genetic structure of the trait.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Department of Animal Science School of Agricultural and Veterinary Sciences São Paulo State University (UNESP) Via de Acesso Prof. Paulo Donato CastellaneGenSys Consultores Associados S/C LtdaNational Council for Science and Technological DevelopmentDepartment of Animal Science School of Agricultural and Veterinary Sciences São Paulo State University (UNESP) Via de Acesso Prof. Paulo Donato CastellaneCAPES: 2013Universidade Estadual Paulista (Unesp)GenSys Consultores Associados S/C LtdaNational Council for Science and Technological DevelopmentGarcia, Baltasar Fernandes [UNESP]Melo, Thaise Pinto de [UNESP]Neves, Haroldo Henrique de RezendeCarvalheiro, Roberto [UNESP]2020-12-12T01:34:55Z2020-12-12T01:34:55Z2020-11-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1016/j.livsci.2020.104213Livestock Science, v. 241.1871-1413http://hdl.handle.net/11449/19925410.1016/j.livsci.2020.1042132-s2.0-85089410182Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengLivestock Scienceinfo:eu-repo/semantics/openAccess2021-10-23T05:43:37Zoai:repositorio.unesp.br:11449/199254Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T17:04:43.468667Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
title |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
spellingShingle |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study Garcia, Baltasar Fernandes [UNESP] Bayesian methods GWA QTL mapping weighted single-step GBLUP |
title_short |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
title_full |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
title_fullStr |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
title_full_unstemmed |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
title_sort |
Comparison of GWA statistical methods for traits under different genetic structures: A simulation study |
author |
Garcia, Baltasar Fernandes [UNESP] |
author_facet |
Garcia, Baltasar Fernandes [UNESP] Melo, Thaise Pinto de [UNESP] Neves, Haroldo Henrique de Rezende Carvalheiro, Roberto [UNESP] |
author_role |
author |
author2 |
Melo, Thaise Pinto de [UNESP] Neves, Haroldo Henrique de Rezende Carvalheiro, Roberto [UNESP] |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) GenSys Consultores Associados S/C Ltda National Council for Science and Technological Development |
dc.contributor.author.fl_str_mv |
Garcia, Baltasar Fernandes [UNESP] Melo, Thaise Pinto de [UNESP] Neves, Haroldo Henrique de Rezende Carvalheiro, Roberto [UNESP] |
dc.subject.por.fl_str_mv |
Bayesian methods GWA QTL mapping weighted single-step GBLUP |
topic |
Bayesian methods GWA QTL mapping weighted single-step GBLUP |
description |
Several methods have been used to perform genome wide association (GWA) studies, aiming to map quantitative trait loci (QTL) and candidate variants. The single-step genomic best linear unbiased prediction (ssGBLUP) method is one alternative to perform GWA, which allows the simultaneous use of genotypic, pedigree and phenotypic information. Bayesian multiple regression models have also been used to perform GWA, allowing specifying different priori distribution for the molecular marker effects. The aim of the present study was to evaluate, through simulation, the performance of different methods in the identification of QTLs for polygenic and major gene traits, under different heritabilities when only relatively few animals were genotyped. We also investigated the consequence of considering the agreement among results from different methods as a strategy to decrease errors associated with false positives in QTL mapping. For polygenic scenarios, results showed low power to detect QTL, irrespective of the method, and the use of phenotypes from non-genotyped animals slightly helped QTL detection of ssGBLUP and weighted ssGBLUP (wssGBLUP). For scenarios with major gene effects, there was greater power in QTL detection, with a slight superiority of Bayes C over the other methods. The inclusion of additional phenotypic information (from non-genotyped animals) harmed the performance of wssGBLUP in the presence of major QTL. When only consensus regions identified by different methods were considered as evidence of QTL, the percentage of top windows containing a true QTL tended to increase with the number of methods that identified a top window, for all scenarios. However, an important proportion of true QTL were identified only by a single or few methods. Despite the small differences among methods in the QTL detection, for polygenic traits, the ssGBLUP and wssGBLUP methods seemed to show better results in comparison to the other methods mainly in the low heritability scenario. For traits with major gene effects, the Bayes C method is expected to present better results, compared to the other methods evaluated, given a limited number of genotyped animals. The strategy to use agreement of GWA results among methods to map QTL helps to reduce false positives but comes at a cost of missing important QTL, irrespective of the genetic structure of the trait. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-12T01:34:55Z 2020-12-12T01:34:55Z 2020-11-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1016/j.livsci.2020.104213 Livestock Science, v. 241. 1871-1413 http://hdl.handle.net/11449/199254 10.1016/j.livsci.2020.104213 2-s2.0-85089410182 |
url |
http://dx.doi.org/10.1016/j.livsci.2020.104213 http://hdl.handle.net/11449/199254 |
identifier_str_mv |
Livestock Science, v. 241. 1871-1413 10.1016/j.livsci.2020.104213 2-s2.0-85089410182 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Livestock Science |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808128752160342016 |