MODY probability calculator for GCK and HNF1A screening in a multiethnic background population

Detalhes bibliográficos
Autor(a) principal: Tarantino, Roberta Magalhães
Data de Publicação: 2019
Outros Autores: Abreu, Gabriella de Medeiros, Fonseca, Ana Carolina Proença de, Kupfer, Rosane, Pereira, Maria de Fátima Carvalho, Campos Junior, Mario, Zajdenverg, Lenita, Rodacki, Melanie
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/37377
Resumo: Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.
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spelling Tarantino, Roberta MagalhãesAbreu, Gabriella de MedeirosFonseca, Ana Carolina Proença deKupfer, RosanePereira, Maria de Fátima CarvalhoCampos Junior, MarioZajdenverg, LenitaRodacki, Melanie2019-11-26T13:08:19Z2019-11-26T13:08:19Z2019TARANTINO, Roberta Magalhães et al. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population. Archives of Endocrinology and Metabolism, Botucatu, p. 1-7, Sept. 30, 2019.2359-3997https://www.arca.fiocruz.br/handle/icict/3737710.20945/2359-39970000001732359-4292engSociedade Brasileira de Endocrinologia e MetabolismoDiabetes monogênicaDiabetes Mellitus Tipo 2GCKHNF1AMODYMonogenic diabetesMODY probability calculator for GCK and HNF1A screening in a multiethnic background populationinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Instituto Estadual de Diabetes e Endocrinologia do Rio de Janeiro. Seção de Diabetes. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Patologia Clínica. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Objective: We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects and methods: Inclusion criteria were patients with DM diagnosed before 35 years; body mass index < 30 kg/m2; negative autoantibodies; and family history of DM in two or more generations. We sequenced HNF1A in 27 patients and GCK in seven subjects with asymptomatic mild fasting hyperglycemia. In addition, we calculated MODY probability with MPC. Results: We identified 11 mutations in 34 patients (32.3%). We found three novel mutations. In the GCK group, six cases had mutations (85.7%), and their MODY probability on MPC was higher than 50%. In the HNF1A group, five of 27 individuals had mutations (18.5%). The MPC was higher than 75% in 11 subjects (including all five cases with HNF1A mutations). Conclusion: Approximately one third of the studied patients have GCK or HNF1A mutations. Inclusion criteria included efficiency in detecting patients with GCK mutations but not for HNF1A mutations (< 20%). MPC was helpful in narrowing the number of candidates for HNF1A screening.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/37377/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALMario_CamposJunior_etal_IOC_2019.pdfMario_CamposJunior_etal_IOC_2019.pdfapplication/pdf726257https://www.arca.fiocruz.br/bitstream/icict/37377/2/Mario_CamposJunior_etal_IOC_2019.pdf7afe29afc2b8f2fbff7f1fad7a5c569bMD52TEXTMario_CamposJunior_etal_IOC_2019.pdf.txtMario_CamposJunior_etal_IOC_2019.pdf.txtExtracted texttext/plain29094https://www.arca.fiocruz.br/bitstream/icict/37377/3/Mario_CamposJunior_etal_IOC_2019.pdf.txt14c0f9c516ad8c713b6b403e394007d3MD53icict/373772020-04-14 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dc.title.pt_BR.fl_str_mv MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
title MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
spellingShingle MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
Tarantino, Roberta Magalhães
Diabetes monogênica
Diabetes Mellitus Tipo 2
GCK
HNF1A
MODY
Monogenic diabetes
title_short MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
title_full MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
title_fullStr MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
title_full_unstemmed MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
title_sort MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
author Tarantino, Roberta Magalhães
author_facet Tarantino, Roberta Magalhães
Abreu, Gabriella de Medeiros
Fonseca, Ana Carolina Proença de
Kupfer, Rosane
Pereira, Maria de Fátima Carvalho
Campos Junior, Mario
Zajdenverg, Lenita
Rodacki, Melanie
author_role author
author2 Abreu, Gabriella de Medeiros
Fonseca, Ana Carolina Proença de
Kupfer, Rosane
Pereira, Maria de Fátima Carvalho
Campos Junior, Mario
Zajdenverg, Lenita
Rodacki, Melanie
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Tarantino, Roberta Magalhães
Abreu, Gabriella de Medeiros
Fonseca, Ana Carolina Proença de
Kupfer, Rosane
Pereira, Maria de Fátima Carvalho
Campos Junior, Mario
Zajdenverg, Lenita
Rodacki, Melanie
dc.subject.other.pt_BR.fl_str_mv Diabetes monogênica
Diabetes Mellitus Tipo 2
topic Diabetes monogênica
Diabetes Mellitus Tipo 2
GCK
HNF1A
MODY
Monogenic diabetes
dc.subject.en.pt_BR.fl_str_mv GCK
HNF1A
MODY
Monogenic diabetes
description Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.
publishDate 2019
dc.date.accessioned.fl_str_mv 2019-11-26T13:08:19Z
dc.date.available.fl_str_mv 2019-11-26T13:08:19Z
dc.date.issued.fl_str_mv 2019
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.citation.fl_str_mv TARANTINO, Roberta Magalhães et al. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population. Archives of Endocrinology and Metabolism, Botucatu, p. 1-7, Sept. 30, 2019.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/37377
dc.identifier.issn.pt_BR.fl_str_mv 2359-3997
dc.identifier.doi.none.fl_str_mv 10.20945/2359-3997000000173
dc.identifier.eissn.none.fl_str_mv 2359-4292
identifier_str_mv TARANTINO, Roberta Magalhães et al. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population. Archives of Endocrinology and Metabolism, Botucatu, p. 1-7, Sept. 30, 2019.
2359-3997
10.20945/2359-3997000000173
2359-4292
url https://www.arca.fiocruz.br/handle/icict/37377
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabolismo
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabolismo
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/37377/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/37377/2/Mario_CamposJunior_etal_IOC_2019.pdf
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