Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis

ABSTRACT: Aggressive periodontitis is a multifactorial disease with strong familial aggregation. Genetic linkage analysis is a method to localize causative or predisposing genes along the chromosome, thus helping to unravel important pathogenic pathways. Prior to applying this method, however, it is...

Full description

Autores:
Rapp, Gisela Estela
Pineda Trujillo, Nicolás Guillermo
McQuillin, Andrew
Tonetti, Maurizio
Tipo de recurso:
Article of investigation
Fecha de publicación:
2010
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/25734
Acceso en línea:
http://hdl.handle.net/10495/25734
Palabra clave:
Periodontitis Agresiva
Aggressive Periodontitis
Enlace (genética)
Linkage (Genetics)
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-sa/2.5/co/
id UDEA2_98c4f37a83d5d4465064ebfca5cde6e8
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/25734
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
title Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
spellingShingle Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
Periodontitis Agresiva
Aggressive Periodontitis
Enlace (genética)
Linkage (Genetics)
title_short Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
title_full Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
title_fullStr Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
title_full_unstemmed Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
title_sort Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis
dc.creator.fl_str_mv Rapp, Gisela Estela
Pineda Trujillo, Nicolás Guillermo
McQuillin, Andrew
Tonetti, Maurizio
dc.contributor.author.none.fl_str_mv Rapp, Gisela Estela
Pineda Trujillo, Nicolás Guillermo
McQuillin, Andrew
Tonetti, Maurizio
dc.subject.decs.none.fl_str_mv Periodontitis Agresiva
Aggressive Periodontitis
topic Periodontitis Agresiva
Aggressive Periodontitis
Enlace (genética)
Linkage (Genetics)
dc.subject.lemb.none.fl_str_mv Enlace (genética)
Linkage (Genetics)
description ABSTRACT: Aggressive periodontitis is a multifactorial disease with strong familial aggregation. Genetic linkage analysis is a method to localize causative or predisposing genes along the chromosome, thus helping to unravel important pathogenic pathways. Prior to applying this method, however, it is essential to estimate the power of the study design. The aim of this study was to estimate the power of a large Brazilian family with generalized aggressive periodontitis (GAgP) for future linkage analysis. A three-generation family was seen at the Dental School of the Federal University of Bahia. A full-mouth periodontal probing at 6 sites/tooth was performed in all 23 family members. Five out of 10 siblings were affected with GAgP. A parametric simulation (? = 0) was performed on 100 replicates using the statistical software SLINK for linkage analysis. The linkage LOD score criteria for complex diseases described by Haines was adopted. There was maximum expected LOD scores of 3.56 and 3.48 at penetrance rate F = 0.98, and both studied phenocopy rates p=0.0 and p=0.02, respectively. The analyzed family showed statistical power for future genetic linkage analysis of candidate genes to GAgP.
publishDate 2010
dc.date.issued.none.fl_str_mv 2010
dc.date.accessioned.none.fl_str_mv 2022-02-01T19:54:55Z
dc.date.available.none.fl_str_mv 2022-02-01T19:54:55Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
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dc.type.local.spa.fl_str_mv Artículo de investigación
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dc.identifier.issn.none.fl_str_mv 0103-6440
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/25734
dc.identifier.eissn.none.fl_str_mv 1806-4760
identifier_str_mv 0103-6440
1806-4760
url http://hdl.handle.net/10495/25734
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Braz. Dent. J.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-sa/2.5/co/
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dc.format.extent.spa.fl_str_mv 5
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dc.publisher.spa.fl_str_mv Dental Foundation of Ribeirão Preto
dc.publisher.group.spa.fl_str_mv Grupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - Pediaciencias
Grupo Mapeo Genético
dc.publisher.place.spa.fl_str_mv Ribeirão Preto, Brasil
institution Universidad de Antioquia
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https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/1/RappGisela_2010_GeneticPowerGeneration.pdf
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spelling Rapp, Gisela EstelaPineda Trujillo, Nicolás GuillermoMcQuillin, AndrewTonetti, Maurizio2022-02-01T19:54:55Z2022-02-01T19:54:55Z20100103-6440http://hdl.handle.net/10495/257341806-4760ABSTRACT: Aggressive periodontitis is a multifactorial disease with strong familial aggregation. Genetic linkage analysis is a method to localize causative or predisposing genes along the chromosome, thus helping to unravel important pathogenic pathways. Prior to applying this method, however, it is essential to estimate the power of the study design. The aim of this study was to estimate the power of a large Brazilian family with generalized aggressive periodontitis (GAgP) for future linkage analysis. A three-generation family was seen at the Dental School of the Federal University of Bahia. A full-mouth periodontal probing at 6 sites/tooth was performed in all 23 family members. Five out of 10 siblings were affected with GAgP. A parametric simulation (? = 0) was performed on 100 replicates using the statistical software SLINK for linkage analysis. The linkage LOD score criteria for complex diseases described by Haines was adopted. There was maximum expected LOD scores of 3.56 and 3.48 at penetrance rate F = 0.98, and both studied phenocopy rates p=0.0 and p=0.02, respectively. The analyzed family showed statistical power for future genetic linkage analysis of candidate genes to GAgP.COL0057491COL00587845application/pdfengDental Foundation of Ribeirão PretoGrupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - PediacienciasGrupo Mapeo GenéticoRibeirão Preto, Brasilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-sa/4.0/Genetic power of a Brazilian three-generation family with generalized aggressive periodontitisPeriodontitis AgresivaAggressive PeriodontitisEnlace (genética)Linkage (Genetics)Braz. Dent. J.Brazilian Dental Journal137141212LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD53CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81051https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/2/license_rdfe2060682c9c70d4d30c83c51448f4eedMD52ORIGINALRappGisela_2010_GeneticPowerGeneration.pdfRappGisela_2010_GeneticPowerGeneration.pdfArtículo de investigaciónapplication/pdf245011https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/1/RappGisela_2010_GeneticPowerGeneration.pdfee4520e9c315f7e8d0f54a91a9e0807cMD5110495/25734oai:bibliotecadigital.udea.edu.co:10495/257342022-02-01 14:54:56.235Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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