Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Biblioteca Digital de Teses e Dissertações da UERJ |
Texto Completo: | http://www.bdtd.uerj.br/handle/1/18037 |
Resumo: | Early age acute leukemia (e-AL; up to 24 months old) and infant acute leukemia (i-AL; up to 12 months old) have a high frequency of chromosomal rearrangements envolving Lysine specific methyltransferase 2A gene (KMT2A, previously termed as MLL), which has an important role on epigenetics both in fetal development and definitive hematopoiesis. KMT2A rearrangements (KMT2A-r) occur both in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Single strand breaks and double strand breaks caused by parental exposition to xenobiotics compounds during pregnancy are repaired by base excision repair (BER), nucleotide excision repair (NER) and non-homologous end-joining (NHEJ) systems. NHEJ is an error-prone repair system enrolled in chromosomal translocations, including KMT2A-r. To test the hypothesis that genetic variants on DNA repair systems modify the risk for e-AL and i-AL, we investigated rs25487 (XRCC1), rs11615 (ERCC1), rs3212986 (ERCC1), rs5751129 (XRCC6), rs6869366 (XRCC4) and rs28360071 (XRCC4) in association with KMT2A-r and leukemia risk to these two conditions. Using data from BCSGIAL (2000-2013), 277 cases (ALL = 164; AML = 113) and 300 controls up to 24 months old were genotyped by PCR or PCR-RFLP. Bone marrow XRCC4 expression was evaluated by qPCR. Hardy-Weinberg equilibrium was calculated using GenPop Web 4.5.1, Odds ratio (OR) were calculated using SPSS Statistics 22.0, and gene expression was analyzed on GraphPad Prism 5. We have found that rs3212986 (recessive model: p = 0.013; aOR = 0.15; CI: 0.03-0.67; CCxAA model: p < 0.010; ORa = 0.13; CI: 0.03-0.58) has a protective effect for e-AL; and rs25487 demonstrated a global increased risk for AML (recessive model: p < 0,001; aOR 6.30; CI: 3.25-12.2). The rs28360071 variant increases the risk to e-ALL and i-ALL in children harboring KMT2A-r (II x ID model: p = 0.014; aOR 2.23; CI: 1.17-4.25; p = 0.031 aOR = 2.27; CI: 1.07-4.82, respectively). The remaining variants did not showed any statistical significance with the risk. ALL patients showed a higher bone marrow expression level of XRCC4 mRNA, but there was no differences regarding rs28360071 genotypes. Human Splicing Finder 3.1 software predicted that the deletion allele is potentially associated with the activation of a donor cryptic splice site in intron 3, which could contribute to protein structure and function modifications. These data point to a relationship between rs25487 and rs3212986 polymorphisms and acute leukemia, and an association of rs28360071 and ALL with KMT2A-r. |
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Teixeira, Ana Maria Rossinihttp://lattes.cnpq.br/0370020634398898Albano, Rodolpho Mattoshttp://lattes.cnpq.br/1268859650338952Santos-Rebouças, Cíntia Barroshttp://lattes.cnpq.br/5415426502606671Pombo-de-Oliveira, Maria do Socorrohttp://lattes.cnpq.br/3085057149388157Simão, Tatiana de Almeidahttp://lattes.cnpq.br/4257729756468950http://lattes.cnpq.br/7819250602174749Louzada Neto, Orlando Soaresorlouzada@gmail.com2022-07-12T13:23:31Z2018-07-12LOUZADA NETO, Orlando Soares. Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente. 2018. 134 f. Dissertação (Mestrado em Biociências) – Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, 2018.http://www.bdtd.uerj.br/handle/1/18037Early age acute leukemia (e-AL; up to 24 months old) and infant acute leukemia (i-AL; up to 12 months old) have a high frequency of chromosomal rearrangements envolving Lysine specific methyltransferase 2A gene (KMT2A, previously termed as MLL), which has an important role on epigenetics both in fetal development and definitive hematopoiesis. KMT2A rearrangements (KMT2A-r) occur both in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Single strand breaks and double strand breaks caused by parental exposition to xenobiotics compounds during pregnancy are repaired by base excision repair (BER), nucleotide excision repair (NER) and non-homologous end-joining (NHEJ) systems. NHEJ is an error-prone repair system enrolled in chromosomal translocations, including KMT2A-r. To test the hypothesis that genetic variants on DNA repair systems modify the risk for e-AL and i-AL, we investigated rs25487 (XRCC1), rs11615 (ERCC1), rs3212986 (ERCC1), rs5751129 (XRCC6), rs6869366 (XRCC4) and rs28360071 (XRCC4) in association with KMT2A-r and leukemia risk to these two conditions. Using data from BCSGIAL (2000-2013), 277 cases (ALL = 164; AML = 113) and 300 controls up to 24 months old were genotyped by PCR or PCR-RFLP. Bone marrow XRCC4 expression was evaluated by qPCR. Hardy-Weinberg equilibrium was calculated using GenPop Web 4.5.1, Odds ratio (OR) were calculated using SPSS Statistics 22.0, and gene expression was analyzed on GraphPad Prism 5. We have found that rs3212986 (recessive model: p = 0.013; aOR = 0.15; CI: 0.03-0.67; CCxAA model: p < 0.010; ORa = 0.13; CI: 0.03-0.58) has a protective effect for e-AL; and rs25487 demonstrated a global increased risk for AML (recessive model: p < 0,001; aOR 6.30; CI: 3.25-12.2). The rs28360071 variant increases the risk to e-ALL and i-ALL in children harboring KMT2A-r (II x ID model: p = 0.014; aOR 2.23; CI: 1.17-4.25; p = 0.031 aOR = 2.27; CI: 1.07-4.82, respectively). The remaining variants did not showed any statistical significance with the risk. ALL patients showed a higher bone marrow expression level of XRCC4 mRNA, but there was no differences regarding rs28360071 genotypes. Human Splicing Finder 3.1 software predicted that the deletion allele is potentially associated with the activation of a donor cryptic splice site in intron 3, which could contribute to protein structure and function modifications. These data point to a relationship between rs25487 and rs3212986 polymorphisms and acute leukemia, and an association of rs28360071 and ALL with KMT2A-r.Leucemias agudas infantis (LA-i; até 24 meses de idade) e do lactente (LA-l; até 12 meses de idade) são caracterizadas por alta frequência de rearranjos envolvendo o gene Lysine specific Methyltransferase 2A (KMT2A, anteriormente denominado MLL), importante regulador epigenético tanto no desenvolvimento fetal quanto na hematopoiese definitiva. Os rearranjos no KMT2A (KMT2A-r) ocorrem em leucemia linfoblástica aguda (LLA) e leucemia mieloide aguda (LMA). Os danos ao DNA fetal causados pela exposição materna a xenobióticos durante a gravidez são reconhecidos pelos sistemas de reparo por excisão de bases (BER), por excisão de nucleotídeos (NER) e por junção de extremidades não homólogas (NHEJ). Este último, passível de erro, está envolvido na geração de rearranjos cromossômicos, incluindo KMT2A-r. Para testar a hipótese de que variantes gênicas dos sistemas de reparo de DNA modificam o risco para LA-i e LA-l, foi avaliada a associação de rs25487 (XRCC1), rs11615 (ERCC1), rs3212986 (ERCC1), rs5751129 (XRCC6), rs6869366 (XRCC4) e rs28360071 (XRCC4) com KMT2A-r e o risco de leucemia nestas duas condições. Utilizando amostras de crianças até 24 meses de idade e dados do BCSGIAL (2000-2013), os genótipos de 277 casos (LLA = 164; LMA = 113) e 300 controles foram determinados por PCR ou PCR-RFLP. A expressão gênica do XRCC4 na medula óssea foi avaliada por qPCR. O Equilíbrio de Hardy-Weinberg foi verificado pelo software GenPop Web 4.5.1, os cálculos de Odd ratio (OR) foram realizados no SPSS Statistics 22.0 e as análises dos resultados de expressão gênica no GraphPad Prism 5. O rs3212986 demonstrou proteção para LA-i (modelo recessivo: p = 0,013; ORa = 0,15; IC: 0,03-0,67; modelo CCxAA: p < 0,010; ORa = 0,13; IC: 0,03-0,58), enquanto rs25487 demonstrou risco global para LMA (modelo recessivo, p < 0,001; ORa 6,30; IC: 3,25- 12,2). O polimorfismo rs28360071 demonstrou risco para LLA-i e LLA-l em crianças que possuem KMT2A-r (modelo IIxID, p = 0,014; ORa 2,23; IC: 1,17-4,25; p = 0,031, ORa = 2,27; IC: 1,07-4,82, respectivamente). Nenhuma associação estatisticamente significante foi encontrada para as demais variantes. Observou-se maior expressão de XRCC4 na medula óssea de pacientes com LLA, embora esta variação não ocorra em função dos diferentes genótipos de rs28360071. O software Human Splicing Finder 3.1 previu a ativação de um sítio doador de splicing no intron 3 associado ao alelo de deleção, possivelmente modificando a proteína codificada e sua função. Estes dados sugerem uma possível relação entre os polimorfismos rs25487 e rs3212986 e leucemias agudas, enquanto o polimorfismo rs28360071 está associado à LLA com KMT2A-r.Submitted by Heloísa CB/A (helobdtd@gmail.com) on 2022-07-12T13:23:31Z No. of bitstreams: 1 Orlando Soares Louzada Neto.pdf: 3243477 bytes, checksum: 675b797b6da30915ab8a1136f91f502b (MD5)Made available in DSpace on 2022-07-12T13:23:31Z (GMT). No. of bitstreams: 1 Orlando Soares Louzada Neto.pdf: 3243477 bytes, checksum: 675b797b6da30915ab8a1136f91f502b (MD5) Previous issue date: 2018-07-12Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPESapplication/pdfporUniversidade do Estado do Rio de JaneiroPrograma de Pós-Graduação em BiociênciasUERJBrasilCentro Biomédico::Instituto de Biologia Roberto Alcantara GomesEarly age acute leukemiaInfant acute leukemiaKMT2ADNA repairPolymorphismsLeucemia aguda infantilLeucemia aguda do lactenteKMT2AReparo de DNAPolimorfismoCIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICAPolimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactenteDNA repair genetic polymorphisms and risk for infant and childhood acute leukemiainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/openAccessreponame:Biblioteca Digital de Teses e Dissertações da UERJinstname:Universidade do Estado do Rio de Janeiro (UERJ)instacron:UERJORIGINALOrlando Soares Louzada Neto.pdfOrlando Soares Louzada Neto.pdfapplication/pdf3243477http://www.bdtd.uerj.br/bitstream/1/18037/2/Orlando+Soares+Louzada+Neto.pdf675b797b6da30915ab8a1136f91f502bMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-82123http://www.bdtd.uerj.br/bitstream/1/18037/1/license.txte5502652da718045d7fcd832b79fca29MD511/180372024-02-26 11:39:25.292oai:www.bdtd.uerj.br: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Biblioteca Digital de Teses e Dissertaçõeshttp://www.bdtd.uerj.br/PUBhttps://www.bdtd.uerj.br:8443/oai/requestbdtd.suporte@uerj.bropendoar:29032024-02-26T14:39:25Biblioteca Digital de Teses e Dissertações da UERJ - Universidade do Estado do Rio de Janeiro (UERJ)false |
dc.title.por.fl_str_mv |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
dc.title.alternative.eng.fl_str_mv |
DNA repair genetic polymorphisms and risk for infant and childhood acute leukemia |
title |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
spellingShingle |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente Louzada Neto, Orlando Soares Early age acute leukemia Infant acute leukemia KMT2A DNA repair Polymorphisms Leucemia aguda infantil Leucemia aguda do lactente KMT2A Reparo de DNA Polimorfismo CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA |
title_short |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
title_full |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
title_fullStr |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
title_full_unstemmed |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
title_sort |
Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente |
author |
Louzada Neto, Orlando Soares |
author_facet |
Louzada Neto, Orlando Soares orlouzada@gmail.com |
author_role |
author |
author2 |
orlouzada@gmail.com |
author2_role |
author |
dc.contributor.advisor1.fl_str_mv |
Teixeira, Ana Maria Rossini |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/0370020634398898 |
dc.contributor.advisor-co1.fl_str_mv |
Albano, Rodolpho Mattos |
dc.contributor.advisor-co1Lattes.fl_str_mv |
http://lattes.cnpq.br/1268859650338952 |
dc.contributor.referee1.fl_str_mv |
Santos-Rebouças, Cíntia Barros |
dc.contributor.referee1Lattes.fl_str_mv |
http://lattes.cnpq.br/5415426502606671 |
dc.contributor.referee2.fl_str_mv |
Pombo-de-Oliveira, Maria do Socorro |
dc.contributor.referee2Lattes.fl_str_mv |
http://lattes.cnpq.br/3085057149388157 |
dc.contributor.referee3.fl_str_mv |
Simão, Tatiana de Almeida |
dc.contributor.referee3Lattes.fl_str_mv |
http://lattes.cnpq.br/4257729756468950 |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/7819250602174749 |
dc.contributor.author.fl_str_mv |
Louzada Neto, Orlando Soares orlouzada@gmail.com |
contributor_str_mv |
Teixeira, Ana Maria Rossini Albano, Rodolpho Mattos Santos-Rebouças, Cíntia Barros Pombo-de-Oliveira, Maria do Socorro Simão, Tatiana de Almeida |
dc.subject.eng.fl_str_mv |
Early age acute leukemia Infant acute leukemia KMT2A DNA repair Polymorphisms |
topic |
Early age acute leukemia Infant acute leukemia KMT2A DNA repair Polymorphisms Leucemia aguda infantil Leucemia aguda do lactente KMT2A Reparo de DNA Polimorfismo CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA |
dc.subject.por.fl_str_mv |
Leucemia aguda infantil Leucemia aguda do lactente KMT2A Reparo de DNA Polimorfismo |
dc.subject.cnpq.fl_str_mv |
CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA |
description |
Early age acute leukemia (e-AL; up to 24 months old) and infant acute leukemia (i-AL; up to 12 months old) have a high frequency of chromosomal rearrangements envolving Lysine specific methyltransferase 2A gene (KMT2A, previously termed as MLL), which has an important role on epigenetics both in fetal development and definitive hematopoiesis. KMT2A rearrangements (KMT2A-r) occur both in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Single strand breaks and double strand breaks caused by parental exposition to xenobiotics compounds during pregnancy are repaired by base excision repair (BER), nucleotide excision repair (NER) and non-homologous end-joining (NHEJ) systems. NHEJ is an error-prone repair system enrolled in chromosomal translocations, including KMT2A-r. To test the hypothesis that genetic variants on DNA repair systems modify the risk for e-AL and i-AL, we investigated rs25487 (XRCC1), rs11615 (ERCC1), rs3212986 (ERCC1), rs5751129 (XRCC6), rs6869366 (XRCC4) and rs28360071 (XRCC4) in association with KMT2A-r and leukemia risk to these two conditions. Using data from BCSGIAL (2000-2013), 277 cases (ALL = 164; AML = 113) and 300 controls up to 24 months old were genotyped by PCR or PCR-RFLP. Bone marrow XRCC4 expression was evaluated by qPCR. Hardy-Weinberg equilibrium was calculated using GenPop Web 4.5.1, Odds ratio (OR) were calculated using SPSS Statistics 22.0, and gene expression was analyzed on GraphPad Prism 5. We have found that rs3212986 (recessive model: p = 0.013; aOR = 0.15; CI: 0.03-0.67; CCxAA model: p < 0.010; ORa = 0.13; CI: 0.03-0.58) has a protective effect for e-AL; and rs25487 demonstrated a global increased risk for AML (recessive model: p < 0,001; aOR 6.30; CI: 3.25-12.2). The rs28360071 variant increases the risk to e-ALL and i-ALL in children harboring KMT2A-r (II x ID model: p = 0.014; aOR 2.23; CI: 1.17-4.25; p = 0.031 aOR = 2.27; CI: 1.07-4.82, respectively). The remaining variants did not showed any statistical significance with the risk. ALL patients showed a higher bone marrow expression level of XRCC4 mRNA, but there was no differences regarding rs28360071 genotypes. Human Splicing Finder 3.1 software predicted that the deletion allele is potentially associated with the activation of a donor cryptic splice site in intron 3, which could contribute to protein structure and function modifications. These data point to a relationship between rs25487 and rs3212986 polymorphisms and acute leukemia, and an association of rs28360071 and ALL with KMT2A-r. |
publishDate |
2018 |
dc.date.issued.fl_str_mv |
2018-07-12 |
dc.date.accessioned.fl_str_mv |
2022-07-12T13:23:31Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
format |
masterThesis |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
LOUZADA NETO, Orlando Soares. Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente. 2018. 134 f. Dissertação (Mestrado em Biociências) – Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, 2018. |
dc.identifier.uri.fl_str_mv |
http://www.bdtd.uerj.br/handle/1/18037 |
identifier_str_mv |
LOUZADA NETO, Orlando Soares. Polimorfismos em genes de reparo do DNA e risco para leucemias agudas infantis e do lactente. 2018. 134 f. Dissertação (Mestrado em Biociências) – Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, 2018. |
url |
http://www.bdtd.uerj.br/handle/1/18037 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade do Estado do Rio de Janeiro |
dc.publisher.program.fl_str_mv |
Programa de Pós-Graduação em Biociências |
dc.publisher.initials.fl_str_mv |
UERJ |
dc.publisher.country.fl_str_mv |
Brasil |
dc.publisher.department.fl_str_mv |
Centro Biomédico::Instituto de Biologia Roberto Alcantara Gomes |
publisher.none.fl_str_mv |
Universidade do Estado do Rio de Janeiro |
dc.source.none.fl_str_mv |
reponame:Biblioteca Digital de Teses e Dissertações da UERJ instname:Universidade do Estado do Rio de Janeiro (UERJ) instacron:UERJ |
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Universidade do Estado do Rio de Janeiro (UERJ) |
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UERJ |
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UERJ |
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Biblioteca Digital de Teses e Dissertações da UERJ |
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Biblioteca Digital de Teses e Dissertações da UERJ |
bitstream.url.fl_str_mv |
http://www.bdtd.uerj.br/bitstream/1/18037/2/Orlando+Soares+Louzada+Neto.pdf http://www.bdtd.uerj.br/bitstream/1/18037/1/license.txt |
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MD5 MD5 |
repository.name.fl_str_mv |
Biblioteca Digital de Teses e Dissertações da UERJ - Universidade do Estado do Rio de Janeiro (UERJ) |
repository.mail.fl_str_mv |
bdtd.suporte@uerj.br |
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1792352362484989952 |