Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus

Detalhes bibliográficos
Autor(a) principal: Albuquerque, Rafael S. de
Data de Publicação: 2016
Outros Autores: Mendes-Junior, Celso Teixeira, Lucena-Silva, Norma, Lopes da Silva, Camila Leal, Rassi, Diane Meire, Veiga-Castelli, Luciana C., Foss-Freitas, Maria Cristina, Foss, Milton Cesar, Saloum Deghaide, Neifi Hassan, Moreau, Philippe, Gregori, Silvia, Castelli, Erick C. [UNESP], Donadi, Eduardo Antonio
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1016/j.humimm.2016.02.001
http://hdl.handle.net/11449/161444
Resumo: Besides the well recognized association of HLA-DRB1 and DQB1 alleles with type 1 diabetes mellitus (T1D), linkage studies have identified a gene region close to the non-classical class I HLA-G gene as an independent susceptibility marker. HLA-G is constitutively expressed in the endocrine compartment of the human pancreas and may play a role in controlling autoimmune responses. We evaluated the genetic diversity of the 3' untranslated region (3'UTR) of HLA-G, which have been associated with HLA-G mRNA post-transcriptional regulation, in 120 Brazilian T1D patients and in 120 healthy controls. We found the +3001 T allele was observed only in T1D patients. Notably, the +3001 T allele was in linkage disequilibrium with polymorphic sites associated with low production of HLA-G mRNA or soluble HLA-G levels. Moreover, T1D patients showed a low frequency of the HLA-G 3'UTR-17 (14bpINS/+3001T/+3003T/+30 10C/+3027C/+3035T/+3142G/+3187A/+3196C). The +3010 CC genotype and the UTR-3 haplotype (14bp DEL/+3001C/+3003T/+3010C/+3027C/+3035C/+3142G/+3187A/+3196C), associated with low and moderate soluble HLA-G expression, respectively, were underrepresented in patients. The decreased expression of HLA-G at the pancreas level should be detrimental in individuals genetically prone to produce less HLA-G. (C) 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
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spelling Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitusType 1 diabetes mellitusHLA-G3 ' untranslated regionGene regulationBraziliansBesides the well recognized association of HLA-DRB1 and DQB1 alleles with type 1 diabetes mellitus (T1D), linkage studies have identified a gene region close to the non-classical class I HLA-G gene as an independent susceptibility marker. HLA-G is constitutively expressed in the endocrine compartment of the human pancreas and may play a role in controlling autoimmune responses. We evaluated the genetic diversity of the 3' untranslated region (3'UTR) of HLA-G, which have been associated with HLA-G mRNA post-transcriptional regulation, in 120 Brazilian T1D patients and in 120 healthy controls. We found the +3001 T allele was observed only in T1D patients. Notably, the +3001 T allele was in linkage disequilibrium with polymorphic sites associated with low production of HLA-G mRNA or soluble HLA-G levels. Moreover, T1D patients showed a low frequency of the HLA-G 3'UTR-17 (14bpINS/+3001T/+3003T/+30 10C/+3027C/+3035T/+3142G/+3187A/+3196C). The +3010 CC genotype and the UTR-3 haplotype (14bp DEL/+3001C/+3003T/+3010C/+3027C/+3035C/+3142G/+3187A/+3196C), associated with low and moderate soluble HLA-G expression, respectively, were underrepresented in patients. The decreased expression of HLA-G at the pancreas level should be detrimental in individuals genetically prone to produce less HLA-G. (C) 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Fundacao de Apoio ao Ensino Pesquisa e Assistencia (FAEPA)Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, Av Bandeirantes 3900, BR-14040901 Ribeirao Preto, SP, BrazilIst Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyUniv Sao Paulo, Fac Filosofia Ciencias & Letras Ribeirao Preto, Dept Quim, Av Bandeirantes 3900, BR-14040901 Ribeirao Preto, SP, BrazilOswaldo Cruz Fdn Fiocruz, Aggeu Magalhaes Res Ctr, Dept Immunol, Recife, PE, BrazilUniv Sao Paulo, Dept Med, Fac Med Ribeirao Preto, Av Bandeirantes 3900, BR-14040901 Ribeirao Preto, SP, BrazilUniv Paris 07, Sorbonne Paris Cite, Hop St Louis,Serv Rech Hematoimmunol,IUH, UMR Commissariat Energie Atom & Energies,iMETI, 1 Ave Claude Vellefaux, F-75475 Paris 10, FranceUniv Estadual Paulista, Fac Med Botucatu, Dept Patol, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med Botucatu, Dept Patol, Botucatu, SP, BrazilCAPES: 653/09CNPq: 309572/2014-2CNPq: 304931/2014-4CNPq: 304471/2013-5CNPq: 406594/2013-9Elsevier B.V.Universidade de São Paulo (USP)Ist Sci San RaffaeleOswaldo Cruz Fdn FiocruzUniversidade Estadual Paulista (Unesp)Albuquerque, Rafael S. deMendes-Junior, Celso TeixeiraLucena-Silva, NormaLopes da Silva, Camila LealRassi, Diane MeireVeiga-Castelli, Luciana C.Foss-Freitas, Maria CristinaFoss, Milton CesarSaloum Deghaide, Neifi HassanMoreau, PhilippeGregori, SilviaCastelli, Erick C. [UNESP]Donadi, Eduardo Antonio2018-11-26T16:32:46Z2018-11-26T16:32:46Z2016-04-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article358-364application/pdfhttp://dx.doi.org/10.1016/j.humimm.2016.02.001Human Immunology. New York: Elsevier Science Inc, v. 77, n. 4, p. 358-364, 2016.0198-8859http://hdl.handle.net/11449/16144410.1016/j.humimm.2016.02.001WOS:000374724000011WOS000374724000011.pdfWeb of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengHuman Immunology0,856info:eu-repo/semantics/openAccess2024-09-03T13:18:34Zoai:repositorio.unesp.br:11449/161444Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestrepositoriounesp@unesp.bropendoar:29462024-09-03T13:18:34Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
title Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
spellingShingle Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
Albuquerque, Rafael S. de
Type 1 diabetes mellitus
HLA-G
3 ' untranslated region
Gene regulation
Brazilians
title_short Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
title_full Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
title_fullStr Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
title_full_unstemmed Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
title_sort Association of HLA-G 3 ' untranslated region variants with type 1 diabetes mellitus
author Albuquerque, Rafael S. de
author_facet Albuquerque, Rafael S. de
Mendes-Junior, Celso Teixeira
Lucena-Silva, Norma
Lopes da Silva, Camila Leal
Rassi, Diane Meire
Veiga-Castelli, Luciana C.
Foss-Freitas, Maria Cristina
Foss, Milton Cesar
Saloum Deghaide, Neifi Hassan
Moreau, Philippe
Gregori, Silvia
Castelli, Erick C. [UNESP]
Donadi, Eduardo Antonio
author_role author
author2 Mendes-Junior, Celso Teixeira
Lucena-Silva, Norma
Lopes da Silva, Camila Leal
Rassi, Diane Meire
Veiga-Castelli, Luciana C.
Foss-Freitas, Maria Cristina
Foss, Milton Cesar
Saloum Deghaide, Neifi Hassan
Moreau, Philippe
Gregori, Silvia
Castelli, Erick C. [UNESP]
Donadi, Eduardo Antonio
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade de São Paulo (USP)
Ist Sci San Raffaele
Oswaldo Cruz Fdn Fiocruz
Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Albuquerque, Rafael S. de
Mendes-Junior, Celso Teixeira
Lucena-Silva, Norma
Lopes da Silva, Camila Leal
Rassi, Diane Meire
Veiga-Castelli, Luciana C.
Foss-Freitas, Maria Cristina
Foss, Milton Cesar
Saloum Deghaide, Neifi Hassan
Moreau, Philippe
Gregori, Silvia
Castelli, Erick C. [UNESP]
Donadi, Eduardo Antonio
dc.subject.por.fl_str_mv Type 1 diabetes mellitus
HLA-G
3 ' untranslated region
Gene regulation
Brazilians
topic Type 1 diabetes mellitus
HLA-G
3 ' untranslated region
Gene regulation
Brazilians
description Besides the well recognized association of HLA-DRB1 and DQB1 alleles with type 1 diabetes mellitus (T1D), linkage studies have identified a gene region close to the non-classical class I HLA-G gene as an independent susceptibility marker. HLA-G is constitutively expressed in the endocrine compartment of the human pancreas and may play a role in controlling autoimmune responses. We evaluated the genetic diversity of the 3' untranslated region (3'UTR) of HLA-G, which have been associated with HLA-G mRNA post-transcriptional regulation, in 120 Brazilian T1D patients and in 120 healthy controls. We found the +3001 T allele was observed only in T1D patients. Notably, the +3001 T allele was in linkage disequilibrium with polymorphic sites associated with low production of HLA-G mRNA or soluble HLA-G levels. Moreover, T1D patients showed a low frequency of the HLA-G 3'UTR-17 (14bpINS/+3001T/+3003T/+30 10C/+3027C/+3035T/+3142G/+3187A/+3196C). The +3010 CC genotype and the UTR-3 haplotype (14bp DEL/+3001C/+3003T/+3010C/+3027C/+3035C/+3142G/+3187A/+3196C), associated with low and moderate soluble HLA-G expression, respectively, were underrepresented in patients. The decreased expression of HLA-G at the pancreas level should be detrimental in individuals genetically prone to produce less HLA-G. (C) 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
publishDate 2016
dc.date.none.fl_str_mv 2016-04-01
2018-11-26T16:32:46Z
2018-11-26T16:32:46Z
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.uri.fl_str_mv http://dx.doi.org/10.1016/j.humimm.2016.02.001
Human Immunology. New York: Elsevier Science Inc, v. 77, n. 4, p. 358-364, 2016.
0198-8859
http://hdl.handle.net/11449/161444
10.1016/j.humimm.2016.02.001
WOS:000374724000011
WOS000374724000011.pdf
url http://dx.doi.org/10.1016/j.humimm.2016.02.001
http://hdl.handle.net/11449/161444
identifier_str_mv Human Immunology. New York: Elsevier Science Inc, v. 77, n. 4, p. 358-364, 2016.
0198-8859
10.1016/j.humimm.2016.02.001
WOS:000374724000011
WOS000374724000011.pdf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Human Immunology
0,856
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 358-364
application/pdf
dc.publisher.none.fl_str_mv Elsevier B.V.
publisher.none.fl_str_mv Elsevier B.V.
dc.source.none.fl_str_mv Web of Science
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv repositoriounesp@unesp.br
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