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
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , , , |
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. |
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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 |