Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter
| Autor(a) principal: | |
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| Data de Publicação: | 2007 |
| 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/10451/47843 |
Resumo: | © 2007 Fonseca et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited |
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Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoterRheumatoid arthritisDisease durationWork disabilitySystemic manifestationRadiological progression© 2007 Fonseca et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly citedThe objective of this study was to assess whether clinical measures of rheumatoid arthritis activity and severity were influenced by tumor necrosis factor-alpha (TNF-alpha) promoter genotype/haplotype markers. Each patient's disease activity was assessed by the disease activity score using 28 joint counts (DAS28) and functional capacity by the Health Assessment Questionnaire (HAQ) score. Systemic manifestations, radiological damage evaluated by the Sharp/van der Heijde (SvdH) score, disease-modifying anti-rheumatic drug use, joint surgeries, and work disability were also assessed. The promoter region of the TNF-alpha gene, between nucleotides -1,318 and +49, was sequenced using an automated platform. Five hundred fifty-four patients were evaluated and genotyped for 10 single-nucleotide polymorphism (SNP) markers, but 5 of these markers were excluded due to failure to fall within Hardy-Weinberg equilibrium or to monomorphism. Patients with more than 10 years of disease duration (DD) presented significant associations between the -857 SNP and systemic manifestations, as well as joint surgeries. Associations were also found between the -308 SNP and work disability in patients with more than 2 years of DD and radiological damage in patients with less than 10 years of DD. A borderline effect was found between the -238 SNP and HAQ score and radiological damage in patients with 2 to 10 years of DD. An association was also found between haplotypes and the SvdH score for those with more than 10 years of DD. An association was found between some TNF-alpha promoter SNPs and systemic manifestations, radiological progression, HAQ score, work disability, and joint surgeries, particularly in some classes of DD and between haplotypes and radiological progression for those with more than 10 years of DD.This work was supported by grant POCTI/SAU-ESP/59111/2004 from Fundação Ciência e Tecnologia.Springer NatureRepositório da Universidade de LisboaFonseca, João EuricoCavaleiro, JoãoTeles, JoséVieira De Sousa, Elsa CristinaAndreozzi, Valeska L.Antunes, MaríliaAmaral-Turkman, Maria A.Canhao, HelenaMourão, Ana F.Lopes, JoanaCaetano-Lopes, JoanaWeinmann, PamelaSobral, MartaNero, PatríciaSaavedra, Maria J.Malcata, ArmandoCruz, MargaridaMelo, RuiBraña, AraceliMiranda, LuisPatto, José V.Barcelos, Anabelada Silva, JoséSantos, Luís M.Figueiredo, GuilhermeRodrigues, MárioJesus, HerbertoQuintal, AlbertoCarvalho, Teresada Silva, José PereiraBranco, JaimeQueiroz, Mário Viana2021-05-13T15:45:15Z20072007-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/47843engArthritis Res Ther. 2007;9(2):R371478-635410.1186/ar21731478-6362info: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:RCAAP2023-11-08T16:51:01Zoai:repositorio.ul.pt:10451/47843Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:59:48.748088Repositório 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 |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| title |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| spellingShingle |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter Fonseca, João Eurico Rheumatoid arthritis Disease duration Work disability Systemic manifestation Radiological progression |
| title_short |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| title_full |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| title_fullStr |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| title_full_unstemmed |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| title_sort |
Contribution for new genetic markers of rheumatoid arthritis activity and severity : sequencing of the tumor necrosis factor-alpha gene promoter |
| author |
Fonseca, João Eurico |
| author_facet |
Fonseca, João Eurico Cavaleiro, João Teles, José Vieira De Sousa, Elsa Cristina Andreozzi, Valeska L. Antunes, Marília Amaral-Turkman, Maria A. Canhao, Helena Mourão, Ana F. Lopes, Joana Caetano-Lopes, Joana Weinmann, Pamela Sobral, Marta Nero, Patrícia Saavedra, Maria J. Malcata, Armando Cruz, Margarida Melo, Rui Braña, Araceli Miranda, Luis Patto, José V. Barcelos, Anabela da Silva, José Santos, Luís M. Figueiredo, Guilherme Rodrigues, Mário Jesus, Herberto Quintal, Alberto Carvalho, Teresa da Silva, José Pereira Branco, Jaime Queiroz, Mário Viana |
| author_role |
author |
| author2 |
Cavaleiro, João Teles, José Vieira De Sousa, Elsa Cristina Andreozzi, Valeska L. Antunes, Marília Amaral-Turkman, Maria A. Canhao, Helena Mourão, Ana F. Lopes, Joana Caetano-Lopes, Joana Weinmann, Pamela Sobral, Marta Nero, Patrícia Saavedra, Maria J. Malcata, Armando Cruz, Margarida Melo, Rui Braña, Araceli Miranda, Luis Patto, José V. Barcelos, Anabela da Silva, José Santos, Luís M. Figueiredo, Guilherme Rodrigues, Mário Jesus, Herberto Quintal, Alberto Carvalho, Teresa da Silva, José Pereira Branco, Jaime Queiroz, Mário Viana |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
| dc.contributor.author.fl_str_mv |
Fonseca, João Eurico Cavaleiro, João Teles, José Vieira De Sousa, Elsa Cristina Andreozzi, Valeska L. Antunes, Marília Amaral-Turkman, Maria A. Canhao, Helena Mourão, Ana F. Lopes, Joana Caetano-Lopes, Joana Weinmann, Pamela Sobral, Marta Nero, Patrícia Saavedra, Maria J. Malcata, Armando Cruz, Margarida Melo, Rui Braña, Araceli Miranda, Luis Patto, José V. Barcelos, Anabela da Silva, José Santos, Luís M. Figueiredo, Guilherme Rodrigues, Mário Jesus, Herberto Quintal, Alberto Carvalho, Teresa da Silva, José Pereira Branco, Jaime Queiroz, Mário Viana |
| dc.subject.por.fl_str_mv |
Rheumatoid arthritis Disease duration Work disability Systemic manifestation Radiological progression |
| topic |
Rheumatoid arthritis Disease duration Work disability Systemic manifestation Radiological progression |
| description |
© 2007 Fonseca et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited |
| publishDate |
2007 |
| dc.date.none.fl_str_mv |
2007 2007-01-01T00:00:00Z 2021-05-13T15:45:15Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10451/47843 |
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http://hdl.handle.net/10451/47843 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
Arthritis Res Ther. 2007;9(2):R37 1478-6354 10.1186/ar2173 1478-6362 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Springer Nature |
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Springer Nature |
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