Bayesian analysis of allelic penetrance models for complex binary traits
Autor(a) principal: | |
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Data de Publicação: | 2009 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.7/111 |
Resumo: | Complex binary traits result from an intricate network of genetic and environmental factors. To aid their genetic dissection, several generalized linear models have been described to detect interaction between genes. However, it is recognized that these models have limited genetic interpretation. To overcome this problem, the allelic penetrance approach was proposed to model the action of a dominant or a recessive allele at a single locus, and to describe two-locus independent, inhibition, and cumulative actions. Classically, a recessive inheritance requires the expression of both recessive alleles in homozygotes to obtain the phenotype (type I recessiveness). In previous work, recessiveness was defined alternatively as a situation where a recessive allele is able to express the phenotype when the dominant allele is not active (type II recessiveness). Both definitions of recessiveness are then discussed under the allelic penetrance models. Bayesian methods are applied to analyze two data sets: one regarding the effect of the haplotype [HLA-B8, SC01, DR3] on the inheritance of IgD and IgG4 immunoglobulin deficiencies in humans, and other related to two-locus action in the control of Listeria infection susceptibility in mice. |
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Bayesian analysis of allelic penetrance models for complex binary traitsIncomplete penetranceSusceptibility genesEpistasisDiseasesComplex binary traits result from an intricate network of genetic and environmental factors. To aid their genetic dissection, several generalized linear models have been described to detect interaction between genes. However, it is recognized that these models have limited genetic interpretation. To overcome this problem, the allelic penetrance approach was proposed to model the action of a dominant or a recessive allele at a single locus, and to describe two-locus independent, inhibition, and cumulative actions. Classically, a recessive inheritance requires the expression of both recessive alleles in homozygotes to obtain the phenotype (type I recessiveness). In previous work, recessiveness was defined alternatively as a situation where a recessive allele is able to express the phenotype when the dominant allele is not active (type II recessiveness). Both definitions of recessiveness are then discussed under the allelic penetrance models. Bayesian methods are applied to analyze two data sets: one regarding the effect of the haplotype [HLA-B8, SC01, DR3] on the inheritance of IgD and IgG4 immunoglobulin deficiencies in humans, and other related to two-locus action in the control of Listeria infection susceptibility in mice.ElsevierARCASepúlveda, NunoPaulino, Carlos DanielPenha-Gonçalves, Carlos2010-05-14T10:07:43Z20092009-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.7/111engSepúlveda, N., Paulino, C.D. and Penha Gonçalves, C. (2009). Bayesian analysis of allelic penetrance models for complex binary traits. Computational Statistics & Data Analysis 53 (4) : 1271-12830167-9473info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-11-29T14:34:38Zoai:arca.igc.gulbenkian.pt:10400.7/111Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:11:34.893356Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Bayesian analysis of allelic penetrance models for complex binary traits |
title |
Bayesian analysis of allelic penetrance models for complex binary traits |
spellingShingle |
Bayesian analysis of allelic penetrance models for complex binary traits Sepúlveda, Nuno Incomplete penetrance Susceptibility genes Epistasis Diseases |
title_short |
Bayesian analysis of allelic penetrance models for complex binary traits |
title_full |
Bayesian analysis of allelic penetrance models for complex binary traits |
title_fullStr |
Bayesian analysis of allelic penetrance models for complex binary traits |
title_full_unstemmed |
Bayesian analysis of allelic penetrance models for complex binary traits |
title_sort |
Bayesian analysis of allelic penetrance models for complex binary traits |
author |
Sepúlveda, Nuno |
author_facet |
Sepúlveda, Nuno Paulino, Carlos Daniel Penha-Gonçalves, Carlos |
author_role |
author |
author2 |
Paulino, Carlos Daniel Penha-Gonçalves, Carlos |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
ARCA |
dc.contributor.author.fl_str_mv |
Sepúlveda, Nuno Paulino, Carlos Daniel Penha-Gonçalves, Carlos |
dc.subject.por.fl_str_mv |
Incomplete penetrance Susceptibility genes Epistasis Diseases |
topic |
Incomplete penetrance Susceptibility genes Epistasis Diseases |
description |
Complex binary traits result from an intricate network of genetic and environmental factors. To aid their genetic dissection, several generalized linear models have been described to detect interaction between genes. However, it is recognized that these models have limited genetic interpretation. To overcome this problem, the allelic penetrance approach was proposed to model the action of a dominant or a recessive allele at a single locus, and to describe two-locus independent, inhibition, and cumulative actions. Classically, a recessive inheritance requires the expression of both recessive alleles in homozygotes to obtain the phenotype (type I recessiveness). In previous work, recessiveness was defined alternatively as a situation where a recessive allele is able to express the phenotype when the dominant allele is not active (type II recessiveness). Both definitions of recessiveness are then discussed under the allelic penetrance models. Bayesian methods are applied to analyze two data sets: one regarding the effect of the haplotype [HLA-B8, SC01, DR3] on the inheritance of IgD and IgG4 immunoglobulin deficiencies in humans, and other related to two-locus action in the control of Listeria infection susceptibility in mice. |
publishDate |
2009 |
dc.date.none.fl_str_mv |
2009 2009-01-01T00:00:00Z 2010-05-14T10:07:43Z |
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://hdl.handle.net/10400.7/111 |
url |
http://hdl.handle.net/10400.7/111 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Sepúlveda, N., Paulino, C.D. and Penha Gonçalves, C. (2009). Bayesian analysis of allelic penetrance models for complex binary traits. Computational Statistics & Data Analysis 53 (4) : 1271-1283 0167-9473 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799130571436195840 |