Association of PDCD1 polymorphism to systemic lupus erythematosus and rheumatoid arthritis susceptibility

This study aims to analyze the relationship of programmed cell death 1 (PDCD1) gene polymorphism (PD1.3G/A – rs11568821) with features of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in a Southern Brazilian population. Polymerase chain reaction-restriction fragment length polymor...

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Veröffentlicht in:Revista Brasileira de Reumatologia 2016-11, Vol.56 (6), p.483-489
Hauptverfasser: do Canto, Luisa Matos, Farias, Ticiana Della Justina, Medeiros, Mayara Delagnelo, Coêlho, Cíntia Callegari, Sereia, Aline Fernanda Rodrigues, de Carlos Back, Lia Kubelka Fernandes, de Mello, Filipe Martins, Zimmermann, Adriana Fontes, Pereira, Ivânio Alves, de Souza, Ilíada Rainha
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container_title Revista Brasileira de Reumatologia
container_volume 56
creator do Canto, Luisa Matos
Farias, Ticiana Della Justina
Medeiros, Mayara Delagnelo
Coêlho, Cíntia Callegari
Sereia, Aline Fernanda Rodrigues
de Carlos Back, Lia Kubelka Fernandes
de Mello, Filipe Martins
Zimmermann, Adriana Fontes
Pereira, Ivânio Alves
de Souza, Ilíada Rainha
description This study aims to analyze the relationship of programmed cell death 1 (PDCD1) gene polymorphism (PD1.3G/A – rs11568821) with features of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in a Southern Brazilian population. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed in 95 SLE and 87 RA patients and 128 control group individuals from Santa Catarina, Southern Brazil. The Hardy–Weinberg equilibrium (HWE) test, and odds ratio (OR) were analyzed, considering CI 95% and p≤0.05. The PD1.3A allele frequencies were 0.095 (SLE), 0.115 (RA) and 0.078 (controls). The genotypes of the control group were in HWE, while those of SLE and RA patients were not. However, we found no association between PD1.3 polymorphism and the SLE or RA susceptibility, nor clinical or epidemiological data. There was no significant association between PD1.3 polymorphism and SLE or RA susceptibility in this Southern Brazilian population. Este estudo teve como objetivo analisar a relação entre o polimorfismo do gene PDCD1 (Programmed cell death 1) (PD1.3G/A – rs11568821) com caraterísticas do lúpus eritematoso sistêmico (LES) e da artrite reumatoide (AR) em uma população do sul do Brasil. A técnica de PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Lenght Polymorphism) foi utilizada para analisar amostras de 95 pacientes com LES e 87 com AR e 128 indivíduos do grupo controle de Santa Catarina, sul do Brasil. Foi analisada a probabilidade de equilíbrio de Hardy–Weinberg (EHW) e o odds ratio (OR), considerando um IC 95% e p≤0.05. As frequências alélicas PD1.3A foram de 0,095 (LES), 0,115 (AR) e 0,078 (controles). Os genótipos do grupo controle estavam em EHW, enquanto aqueles dos pacientes com LES e AR não estavam. No entanto, não foi encontrada nenhuma associação entre o polimorfismo PD1.3 e a susceptibilidade ao LES ou à AR, nem com dados clínicos ou epidemiológicos. Não foi encontrada associação significativa entre o polimorfismo PD1.3 e a susceptibilidade ao LES ou à AR nesta população do sul do Brasil.
doi_str_mv 10.1016/j.rbre.2015.07.008
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A técnica de PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Lenght Polymorphism) foi utilizada para analisar amostras de 95 pacientes com LES e 87 com AR e 128 indivíduos do grupo controle de Santa Catarina, sul do Brasil. Foi analisada a probabilidade de equilíbrio de Hardy–Weinberg (EHW) e o odds ratio (OR), considerando um IC 95% e p≤0.05. As frequências alélicas PD1.3A foram de 0,095 (LES), 0,115 (AR) e 0,078 (controles). Os genótipos do grupo controle estavam em EHW, enquanto aqueles dos pacientes com LES e AR não estavam. No entanto, não foi encontrada nenhuma associação entre o polimorfismo PD1.3 e a susceptibilidade ao LES ou à AR, nem com dados clínicos ou epidemiológicos. 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Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed in 95 SLE and 87 RA patients and 128 control group individuals from Santa Catarina, Southern Brazil. The Hardy–Weinberg equilibrium (HWE) test, and odds ratio (OR) were analyzed, considering CI 95% and p≤0.05. The PD1.3A allele frequencies were 0.095 (SLE), 0.115 (RA) and 0.078 (controls). The genotypes of the control group were in HWE, while those of SLE and RA patients were not. However, we found no association between PD1.3 polymorphism and the SLE or RA susceptibility, nor clinical or epidemiological data. There was no significant association between PD1.3 polymorphism and SLE or RA susceptibility in this Southern Brazilian population. Este estudo teve como objetivo analisar a relação entre o polimorfismo do gene PDCD1 (Programmed cell death 1) (PD1.3G/A – rs11568821) com caraterísticas do lúpus eritematoso sistêmico (LES) e da artrite reumatoide (AR) em uma população do sul do Brasil. 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Não foi encontrada associação significativa entre o polimorfismo PD1.3 e a susceptibilidade ao LES ou à AR nesta população do sul do Brasil.</abstract><cop>Brazil</cop><pub>Elsevier Editora Ltda</pub><pmid>27914594</pmid><doi>10.1016/j.rbre.2015.07.008</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record>
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subjects Apoptosis Regulatory Proteins - genetics
Arthritis, Rheumatoid - genetics
Artrite reumatoide
Autoimmunity
Autoimunidade
Brazil
Case-Control Studies
Gene Frequency
Gene PDCD1
Genetic Predisposition to Disease
Humans
Lupus Erythematosus, Systemic - genetics
Lúpus eritematoso sistêmico
PD1.3 polymorphism
PDCD1 gene
Polimorfismo PD1.3
Polymorphism, Restriction Fragment Length
Programmed Cell Death 1 Receptor
Rheumatoid arthritis
Systemic lupus erythematosus
title Association of PDCD1 polymorphism to systemic lupus erythematosus and rheumatoid arthritis susceptibility
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