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...
- 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/
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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 |
dc.type.hasversion.spa.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
dc.type.redcol.spa.fl_str_mv |
https://purl.org/redcol/resource_type/ART |
dc.type.local.spa.fl_str_mv |
Artículo de investigación |
format |
http://purl.org/coar/resource_type/c_2df8fbb1 |
status_str |
publishedVersion |
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/ |
dc.rights.accessrights.spa.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
dc.rights.creativecommons.spa.fl_str_mv |
https://creativecommons.org/licenses/by-nc-sa/4.0/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
http://creativecommons.org/licenses/by-nc-sa/2.5/co/ http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by-nc-sa/4.0/ |
dc.format.extent.spa.fl_str_mv |
5 |
dc.format.mimetype.spa.fl_str_mv |
application/pdf |
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 |
bitstream.url.fl_str_mv |
https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/3/license.txt https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/2/license_rdf https://bibliotecadigital.udea.edu.co/bitstream/10495/25734/1/RappGisela_2010_GeneticPowerGeneration.pdf |
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8a4605be74aa9ea9d79846c1fba20a33 e2060682c9c70d4d30c83c51448f4eed ee4520e9c315f7e8d0f54a91a9e0807c |
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repository.name.fl_str_mv |
Repositorio Institucional Universidad de Antioquia |
repository.mail.fl_str_mv |
andres.perez@udea.edu.co |
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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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 |