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| Campo DC | Valor | Idioma |
|---|---|---|
| dc.contributor.author | Alves, Fabiola Silva | - |
| dc.date.available | 2022-07-29 | - |
| dc.date.available | 2022-08-10T16:17:16Z | - |
| dc.date.issued | 2020-06-26 | - |
| dc.identifier.uri | http://repositorioinstitucional.uea.edu.br//handle/riuea/4085 | - |
| dc.description.abstract | The dysregulation of the activation of the inflammasome complex by the presence of Single Nucleotide Polymorphisms (SNPs) is pointed out as one of the factors that promote neoplastic activity in the hematopoietic stem cell. Although the SNPs involving these complexes are associated with the manifestation of infectious and non-infectious diseases, the relationship with susceptibility or prognosis in leukemia patients in the Brazilian Amazon is still unknown. Thus, the aim of this study was to describe the frequency of polymorphisms in the NLRP1 (rs12150220 and rs35865013), NLRP3 (rs10750558 and rs10802502) genes, P2X7 (rs2230911 and rs3751143), IL1β (rs16944) and IL18 (rs187238) and its influence on clinical prognosis. A case-control study was carried out with 158 patients with ALL and 192 control individuals from a region of the Brazilian Amazon, the State of Amazonas. The genetic polymorphisms in the IL1β and IL18 genes were genotyped from the restriction fragment length polymerase- polymorphism chain reaction (PCR-RFLP). While the polymorphisms in the NLRP1, NLRP3 and P2X7 genes were genotyped using Real Time Quantitative PCR (qPCR). The IL1β C/T rs19644 genotype was associated with the risk of ALL development (C/C vs. C/T + T/T OR: 2.48 [95% CI: 1.26 - 4.88, p = 0.006]; CC vs C/T OR: 2.74 [95% CI: 1.37-5.51, p = 0.003]). The genotypes P2X7 A/C rs3751143 (OR: 2.30 [95% CI: 1.05-5.03, p= 0.036]) and NLRP3 G/G rs10754558 (OR: 7.44 [95% CI: 1.44 - 38.26, p = 0.016]) were associated with the risk of infectious comorbidities whereas, NLRP1 A/T rs12150220 (OR: 0.37 [95% CI: 0.16 - 0.87, p = 0.023]) was associated with protection against comorbidities. In addition, the association of the genotype NLRP1 A/G rs35865013 (OR: 2.72 [95% CI: 1.07 - 6.90, p = 0.034]) with the risk of relapse after treatment in ALL patients has been described. The variant IL1β rs16944 seems to predispose individuals from the Brazilian Amazon region to ALL. In addition, inflammasome SNPs are xi associated with the presence of infectious comorbidities and relapse episodes throughout treatment in individuals with acute lymphoblastic leukemia | pt_BR |
| dc.language | por | pt_BR |
| dc.publisher | Universidade do Estado do Amazonas | pt_BR |
| dc.rights | Acesso Aberto | pt_BR |
| dc.subject | leucemia linfoblástica aguda | pt_BR |
| dc.subject | imunidade inata | pt_BR |
| dc.subject | receptores do tipo NOD | pt_BR |
| dc.subject | acute lymphoblastic leukemia | pt_BR |
| dc.title | Frequência dos polimorfismos nos genes NLRP1, NLRP3, P2X7, IL1B e IL18 em pacientes com Leucemia Linfoblástica Aguda e sua influência no prognóstico clínico | pt_BR |
| dc.title.alternative | Frequency of polymorphisms in NLRP1, NLRP3, P2X7, IL1B and IL18 genes in patients with Acute Lymphoblastic Leukemia and its influence on clinical prognosis | pt_BR |
| dc.type | Dissertação | pt_BR |
| dc.date.accessioned | 2022-08-10T16:17:16Z | - |
| dc.contributor.advisor-co1 | Marie, Adriana Malheiro Alle | - |
| dc.contributor.advisor-co1Lattes | http://lattes.cnpq.br/2627415957053194 | pt_BR |
| dc.contributor.advisor1 | Costa, Allyson Guimarães da | - |
| dc.contributor.advisor1Lattes | http://lattes.cnpq.br/7531662673281014 | pt_BR |
| dc.contributor.referee1 | Fraiji, Nelson Abrahim | - |
| dc.contributor.referee1Lattes | http://lattes.cnpq.br/5204063085335824 | pt_BR |
| dc.contributor.referee2 | Arantes, Jerusa Araújo Quintão | - |
| dc.contributor.referee2Lattes | http://lattes.cnpq.br/4094701424279023 | pt_BR |
| dc.contributor.referee3 | Pontes, Gemilson Soares | - |
| dc.contributor.referee3Lattes | http://lattes.cnpq.br/9081671233815990 | pt_BR |
| dc.description.resumo | A desregulação da ativação do complexo inflamassoma pela presença de Polimorfismos de Nucleotídeo Único (SNP ́s) é apontada como um dos fatores promotores da atividade neoplásica na célula-tronco hematopoiética. Embora os SNPs envolvendo esses complexos estejam associados com a manifestação de doenças infecciosas e não infeciosas, a relação com a suscetibilidade ou prognóstico em pacientes com leucemia na Amazônia brasileira ainda é desconhecida. Dessa forma, o objetivo desse estudo foi descrever a frequência dos polimorfismos nos genes NLRP1 (rs12150220 e rs35865013), NLRP3 (rs10750558 e rs10802502), P2X7 (rs2230911 e rs3751143), IL1β (rs16944) e IL18 (rs187238) em pacientes com leucemia linfoblástica aguda e sua a influência no prognóstico clínico. Foi realizado um estudo caso-controle com 158 pacientes com LLA e 192 indivíduos controles oriundos de uma região da Amazônia Brasileira, o Estado do Amazonas. Os polimorfismos genéticos nos genes IL1β e IL18 foram genotipados a partir da análise de reação em cadeia da polimerase-polimorfismo de comprimento de fragmento de restrição (PCR- RFLP). Enquanto os polimorfismos nos genes NLRP1, NLRP3 e P2X7 foram genotipados por meio de PCR Quantitativa em Tempo real (qPCR). O genótipo IL1β C/T rs19644 foi associado com o risco de desenvolvimento de LLA (C/C vs. C/T + T/T OR: 2.48 [IC 95%: 1,26 – 4,88,p=0,006]; C.C vs C/T OR: 2.74 [IC 95%: 1.37-5.51, p=0,003]). Os genótipos P2X7 A/C rs3751143 (OR: 2.30 [IC 95%: 1.05-5.03, p=0,036]) e NLRP3 G/G rs10754558 (OR: 7.44 [IC 95%: 1.44 – 38.26, p=0,016]) foram associados com o risco de comorbidades infecciosas enquanto que, NLRP1 A/T rs12150220 (OR: 0.37 [IC 95%: 0.16 – 0.87, p=0,023]) foi associado com a proteção contra comorbidades. Além disso, foi descrita a associação do genótipo NLRP1 A/G rs35865013 (OR: 2.72 [IC 95%: 1.07 – 6.90, p=0,034]) com o risco de recaída após o tratamento em pacientes com LLA. A variante IL1β rs16944 parece predispor os indivíduos da região da Amazônia brasileira a LLA. Além disso, SNPs do inflamassoma estão associados com a presença de comorbidades infecciosas e episódios de recaída ao longo do tratamento em indivíduos com leucemia linfoblástica aguda | pt_BR |
| dc.publisher.country | Brasil | pt_BR |
| dc.publisher.program | PROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS APLICADAS À HEMATOLOGIA | pt_BR |
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| dc.publisher.initials | UEA | pt_BR |
| Aparece nas coleções: | DISSERTAÇÃO - PPCAH Programa de Pós-Graduação em Ciências Aplicadas à Hematologia | |
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