Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies

Detalhes bibliográficos
Autor(a) principal: Oliveira, Maria Luiza Guimarães de
Data de Publicação: 2018
Outros Autores: Veiga-Castelli, Luciana Caricati, Marcorin, Letícia, Debortoli, Guilherme, Pereira, Alison Luis Eburneo, Fracasso, Nádia Carolina de Aguiar, Silva, Guilherme do Valle, Souza, Andréia S. [UNESP], Massaro, Juliana Doblas, Simões, Aguinaldo Luiz, Sabbagh, Audrey, Donadi, Eduardo Antônio, Castelli, Erick C. [UNESP], Mendes-Junior, Celso Teixeira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1016/j.humimm.2018.08.005
http://hdl.handle.net/11449/186915
Resumo: Human leukocyte antigen-G (HLA-G) is a nonclassical Major Histocompatibility Complex (MHC) molecule with immunomodulatory function and restricted tissue expression. The genetic diversity of HLA-G has been extensively studied in several populations, however, the segment located upstream −1406 has not yet been evaluated. We characterized the nucleotide variation and haplotype structure of an extended distal region (−2635), all exons and the 3′UTR segment of HLA-G by next-generation sequencing (NGS) in a sample of 335 Brazilian individuals. We detected 29 variants at the HLA-G distal promoter region, arranged into 19 haplotypes, among which we identified sites that may influence transcription factor targeting. Although the variation pattern in the distal region resembled the one observed in the conventional promoter segment, molecular signature for balancing selection was observed in the promoter segment from −1406 to −1 (Tajima's D = 2.315, P = 0.017), but not in this distal segment (D = 1.049, P = 0.118). Furthermore, the ancestry composition of this Brazilian population sample was determined by the analysis of SNPforID 34-plex ancestry informative marker (AIM) SNP panel. The distribution of HLA-G haplotypes was ancestry-dependent, corroborating previous findings and emphasizing the importance of considering the ancestry information in association studies.
id UNSP_642a49dce23eaae0432e2827cb34f774
oai_identifier_str oai:repositorio.unesp.br:11449/186915
network_acronym_str UNSP
network_name_str Repositório Institucional da UNESP
repository_id_str 2946
spelling Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studiesAncestryBalancing selectionBrazilHuman leukocyte antigen GNext-generation sequencingPromoter regionsHuman leukocyte antigen-G (HLA-G) is a nonclassical Major Histocompatibility Complex (MHC) molecule with immunomodulatory function and restricted tissue expression. The genetic diversity of HLA-G has been extensively studied in several populations, however, the segment located upstream −1406 has not yet been evaluated. We characterized the nucleotide variation and haplotype structure of an extended distal region (−2635), all exons and the 3′UTR segment of HLA-G by next-generation sequencing (NGS) in a sample of 335 Brazilian individuals. We detected 29 variants at the HLA-G distal promoter region, arranged into 19 haplotypes, among which we identified sites that may influence transcription factor targeting. Although the variation pattern in the distal region resembled the one observed in the conventional promoter segment, molecular signature for balancing selection was observed in the promoter segment from −1406 to −1 (Tajima's D = 2.315, P = 0.017), but not in this distal segment (D = 1.049, P = 0.118). Furthermore, the ancestry composition of this Brazilian population sample was determined by the analysis of SNPforID 34-plex ancestry informative marker (AIM) SNP panel. The distribution of HLA-G haplotypes was ancestry-dependent, corroborating previous findings and emphasizing the importance of considering the ancestry information in association studies.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Departamento de Genética Faculdade de Medicina de Ribeirão Preto Universidade de São PauloDepartamento de Química Laboratório de Pesquisas Forenses e Genômicas Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São PauloDepartamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto Universidade de São PauloSão Paulo State University (UNESP) Molecular Genetics and Bioinformatics Laboratory School of MedicineUMR 216 IRD MERIT Faculté de Pharmacie de Paris Université Paris DescartesSão Paulo State University (UNESP) Molecular Genetics and Bioinformatics Laboratory School of MedicineFAPESP: #2013/15447-0CNPq: #448242/2014-1Universidade de São Paulo (USP)Universidade Estadual Paulista (Unesp)Université Paris DescartesOliveira, Maria Luiza Guimarães deVeiga-Castelli, Luciana CaricatiMarcorin, LetíciaDebortoli, GuilhermePereira, Alison Luis EburneoFracasso, Nádia Carolina de AguiarSilva, Guilherme do ValleSouza, Andréia S. [UNESP]Massaro, Juliana DoblasSimões, Aguinaldo LuizSabbagh, AudreyDonadi, Eduardo AntônioCastelli, Erick C. [UNESP]Mendes-Junior, Celso Teixeira2019-10-06T15:19:43Z2019-10-06T15:19:43Z2018-11-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article790-799http://dx.doi.org/10.1016/j.humimm.2018.08.005Human Immunology, v. 79, n. 11, p. 790-799, 2018.1879-11660198-8859http://hdl.handle.net/11449/18691510.1016/j.humimm.2018.08.0052-s2.0-85054334844Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengHuman Immunologyinfo:eu-repo/semantics/openAccess2021-10-23T20:19:29Zoai:repositorio.unesp.br:11449/186915Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T22:48:26.125388Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
title Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
spellingShingle Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
Oliveira, Maria Luiza Guimarães de
Ancestry
Balancing selection
Brazil
Human leukocyte antigen G
Next-generation sequencing
Promoter regions
title_short Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
title_full Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
title_fullStr Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
title_full_unstemmed Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
title_sort Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies
author Oliveira, Maria Luiza Guimarães de
author_facet Oliveira, Maria Luiza Guimarães de
Veiga-Castelli, Luciana Caricati
Marcorin, Letícia
Debortoli, Guilherme
Pereira, Alison Luis Eburneo
Fracasso, Nádia Carolina de Aguiar
Silva, Guilherme do Valle
Souza, Andréia S. [UNESP]
Massaro, Juliana Doblas
Simões, Aguinaldo Luiz
Sabbagh, Audrey
Donadi, Eduardo Antônio
Castelli, Erick C. [UNESP]
Mendes-Junior, Celso Teixeira
author_role author
author2 Veiga-Castelli, Luciana Caricati
Marcorin, Letícia
Debortoli, Guilherme
Pereira, Alison Luis Eburneo
Fracasso, Nádia Carolina de Aguiar
Silva, Guilherme do Valle
Souza, Andréia S. [UNESP]
Massaro, Juliana Doblas
Simões, Aguinaldo Luiz
Sabbagh, Audrey
Donadi, Eduardo Antônio
Castelli, Erick C. [UNESP]
Mendes-Junior, Celso Teixeira
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade de São Paulo (USP)
Universidade Estadual Paulista (Unesp)
Université Paris Descartes
dc.contributor.author.fl_str_mv Oliveira, Maria Luiza Guimarães de
Veiga-Castelli, Luciana Caricati
Marcorin, Letícia
Debortoli, Guilherme
Pereira, Alison Luis Eburneo
Fracasso, Nádia Carolina de Aguiar
Silva, Guilherme do Valle
Souza, Andréia S. [UNESP]
Massaro, Juliana Doblas
Simões, Aguinaldo Luiz
Sabbagh, Audrey
Donadi, Eduardo Antônio
Castelli, Erick C. [UNESP]
Mendes-Junior, Celso Teixeira
dc.subject.por.fl_str_mv Ancestry
Balancing selection
Brazil
Human leukocyte antigen G
Next-generation sequencing
Promoter regions
topic Ancestry
Balancing selection
Brazil
Human leukocyte antigen G
Next-generation sequencing
Promoter regions
description Human leukocyte antigen-G (HLA-G) is a nonclassical Major Histocompatibility Complex (MHC) molecule with immunomodulatory function and restricted tissue expression. The genetic diversity of HLA-G has been extensively studied in several populations, however, the segment located upstream −1406 has not yet been evaluated. We characterized the nucleotide variation and haplotype structure of an extended distal region (−2635), all exons and the 3′UTR segment of HLA-G by next-generation sequencing (NGS) in a sample of 335 Brazilian individuals. We detected 29 variants at the HLA-G distal promoter region, arranged into 19 haplotypes, among which we identified sites that may influence transcription factor targeting. Although the variation pattern in the distal region resembled the one observed in the conventional promoter segment, molecular signature for balancing selection was observed in the promoter segment from −1406 to −1 (Tajima's D = 2.315, P = 0.017), but not in this distal segment (D = 1.049, P = 0.118). Furthermore, the ancestry composition of this Brazilian population sample was determined by the analysis of SNPforID 34-plex ancestry informative marker (AIM) SNP panel. The distribution of HLA-G haplotypes was ancestry-dependent, corroborating previous findings and emphasizing the importance of considering the ancestry information in association studies.
publishDate 2018
dc.date.none.fl_str_mv 2018-11-01
2019-10-06T15:19:43Z
2019-10-06T15:19:43Z
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.2018.08.005
Human Immunology, v. 79, n. 11, p. 790-799, 2018.
1879-1166
0198-8859
http://hdl.handle.net/11449/186915
10.1016/j.humimm.2018.08.005
2-s2.0-85054334844
url http://dx.doi.org/10.1016/j.humimm.2018.08.005
http://hdl.handle.net/11449/186915
identifier_str_mv Human Immunology, v. 79, n. 11, p. 790-799, 2018.
1879-1166
0198-8859
10.1016/j.humimm.2018.08.005
2-s2.0-85054334844
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Human Immunology
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 790-799
dc.source.none.fl_str_mv Scopus
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
_version_ 1808129463731355648