Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de gastroenterologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032010000300009 |
Resumo: | CONTEXT: Celiac disease susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) that are present in practically all celiac disease patients. The DQ8 heterodimer (coded by DQA1*03-DQB1*0302), which is carried on a DRB1*04 (DR4) haplotype, is commonly encoded for by the few celiacs who do not carry the DQ2 heterodimer. Only a few celiac disease patients have been reported without these known risk alleles. OBJECTIVE: To assess the prevalence of celiac disease in a group of first degree relatives of celiac patients, and the frequency of HLA predisposing alleles both in the group of celiac patients and in their first degree relatives, identifying those first degree relatives who would need further screening for celiac disease. METHODS: Ninety celiac disease patients and 207 first degree relatives underwent serologic screening for celiac disease (endomysial and transglutaminase antibodies) followed by intestinal biopsy in positive patients. The HLA-DQA1*0501, DQB1*0201 and DRB1*04 frequencies of celiac patients and their first degree relatives were determined utilizing the PCR method. RESULTS: All the celiac disease patients (n = 90) with the exception of one (1.1%) carried at least one of the alleles investigated. Altogether 11 (5.3%) of the investigated first degree relatives did not carry any of the alleles studied. Fourteen (6.7%) new cases of celiac disease were found among the 207 celiac disease patients first degree relatives. CONCLUSIONS: Considering the cost-benefit of the HLA typing of all the first degree relatives of celiac patients, their HLA status should be decided on an individual basis, taking account of their profile and preferences, and the existence of other medical conditions. |
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Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relativesCeliac diseaseSerological testsHLA antigensAllelesGenetic predisposition to diseaseFamilyCONTEXT: Celiac disease susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) that are present in practically all celiac disease patients. The DQ8 heterodimer (coded by DQA1*03-DQB1*0302), which is carried on a DRB1*04 (DR4) haplotype, is commonly encoded for by the few celiacs who do not carry the DQ2 heterodimer. Only a few celiac disease patients have been reported without these known risk alleles. OBJECTIVE: To assess the prevalence of celiac disease in a group of first degree relatives of celiac patients, and the frequency of HLA predisposing alleles both in the group of celiac patients and in their first degree relatives, identifying those first degree relatives who would need further screening for celiac disease. METHODS: Ninety celiac disease patients and 207 first degree relatives underwent serologic screening for celiac disease (endomysial and transglutaminase antibodies) followed by intestinal biopsy in positive patients. The HLA-DQA1*0501, DQB1*0201 and DRB1*04 frequencies of celiac patients and their first degree relatives were determined utilizing the PCR method. RESULTS: All the celiac disease patients (n = 90) with the exception of one (1.1%) carried at least one of the alleles investigated. Altogether 11 (5.3%) of the investigated first degree relatives did not carry any of the alleles studied. Fourteen (6.7%) new cases of celiac disease were found among the 207 celiac disease patients first degree relatives. CONCLUSIONS: Considering the cost-benefit of the HLA typing of all the first degree relatives of celiac patients, their HLA status should be decided on an individual basis, taking account of their profile and preferences, and the existence of other medical conditions.Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. 2010-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032010000300009Arquivos de Gastroenterologia v.47 n.3 2010reponame:Arquivos de gastroenterologia (Online)instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiainstacron:IBEPEGE10.1590/S0004-28032010000300009info:eu-repo/semantics/openAccessMartins,Rita de Cássia AzevedoGandolfi,LenoraModelli,Inês CristinaAlmeida,Rodrigo Coutinho deCastro,Luiz ClaudioPratesi,Riccardoeng2010-11-29T00:00:00Zoai:scielo:S0004-28032010000300009Revistahttp://www.scielo.br/aghttps://old.scielo.br/oai/scielo-oai.php||secretariaarqgastr@hospitaligesp.com.br1678-42190004-2803opendoar:2010-11-29T00:00Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiafalse |
dc.title.none.fl_str_mv |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
title |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
spellingShingle |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives Martins,Rita de Cássia Azevedo Celiac disease Serological tests HLA antigens Alleles Genetic predisposition to disease Family |
title_short |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
title_full |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
title_fullStr |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
title_full_unstemmed |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
title_sort |
Serologic screening and genetic testing among brazilian patients with celiac disease and their first degree relatives |
author |
Martins,Rita de Cássia Azevedo |
author_facet |
Martins,Rita de Cássia Azevedo Gandolfi,Lenora Modelli,Inês Cristina Almeida,Rodrigo Coutinho de Castro,Luiz Claudio Pratesi,Riccardo |
author_role |
author |
author2 |
Gandolfi,Lenora Modelli,Inês Cristina Almeida,Rodrigo Coutinho de Castro,Luiz Claudio Pratesi,Riccardo |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Martins,Rita de Cássia Azevedo Gandolfi,Lenora Modelli,Inês Cristina Almeida,Rodrigo Coutinho de Castro,Luiz Claudio Pratesi,Riccardo |
dc.subject.por.fl_str_mv |
Celiac disease Serological tests HLA antigens Alleles Genetic predisposition to disease Family |
topic |
Celiac disease Serological tests HLA antigens Alleles Genetic predisposition to disease Family |
description |
CONTEXT: Celiac disease susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) that are present in practically all celiac disease patients. The DQ8 heterodimer (coded by DQA1*03-DQB1*0302), which is carried on a DRB1*04 (DR4) haplotype, is commonly encoded for by the few celiacs who do not carry the DQ2 heterodimer. Only a few celiac disease patients have been reported without these known risk alleles. OBJECTIVE: To assess the prevalence of celiac disease in a group of first degree relatives of celiac patients, and the frequency of HLA predisposing alleles both in the group of celiac patients and in their first degree relatives, identifying those first degree relatives who would need further screening for celiac disease. METHODS: Ninety celiac disease patients and 207 first degree relatives underwent serologic screening for celiac disease (endomysial and transglutaminase antibodies) followed by intestinal biopsy in positive patients. The HLA-DQA1*0501, DQB1*0201 and DRB1*04 frequencies of celiac patients and their first degree relatives were determined utilizing the PCR method. RESULTS: All the celiac disease patients (n = 90) with the exception of one (1.1%) carried at least one of the alleles investigated. Altogether 11 (5.3%) of the investigated first degree relatives did not carry any of the alleles studied. Fourteen (6.7%) new cases of celiac disease were found among the 207 celiac disease patients first degree relatives. CONCLUSIONS: Considering the cost-benefit of the HLA typing of all the first degree relatives of celiac patients, their HLA status should be decided on an individual basis, taking account of their profile and preferences, and the existence of other medical conditions. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-09-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032010000300009 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032010000300009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-28032010000300009 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. |
publisher.none.fl_str_mv |
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. |
dc.source.none.fl_str_mv |
Arquivos de Gastroenterologia v.47 n.3 2010 reponame:Arquivos de gastroenterologia (Online) instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia instacron:IBEPEGE |
instname_str |
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia |
instacron_str |
IBEPEGE |
institution |
IBEPEGE |
reponame_str |
Arquivos de gastroenterologia (Online) |
collection |
Arquivos de gastroenterologia (Online) |
repository.name.fl_str_mv |
Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia |
repository.mail.fl_str_mv |
||secretariaarqgastr@hospitaligesp.com.br |
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1754193345572241408 |