Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201119
Type: Artigo de periódico
Title: Patients With Systemic Sclerosis Present Increased Dna Damage Differentially Associated With Dna Repair Gene Polymorphisms.
Author: Palomino, Gustavo Martelli
Bassi, Carmen L
Wastowski, Isabela J
Xavier, Danilo J
Lucisano-Valim, Yara M
Crispim, Janaina C O
Rassi, Diane M
Marques-Neto, Joao F
Sakamoto-Hojo, Elza T
Moreau, Philippe
Sampaio-Barros, Percival D
Donadi, Eduardo A
Abstract: Patients with systemic sclerosis (SSc) exhibit increased toxicity when exposed to genotoxic agents. In our study, we evaluated DNA damage and polymorphic sites in 2 DNA repair genes (XRCC1 Arg399Gln and XRCC4 Ile401Thr) in patients with SSc. A total of 177 patients were studied for DNA repair gene polymorphisms. Fifty-six of them were also evaluated for DNA damage in peripheral blood cells using the comet assay. Compared to controls, the patients as a whole or stratified into major clinical variants (limited or diffuse skin involvement), irrespective of the underlying treatment schedule, exhibited increased DNA damage. XRCC1 (rs: 25487) and XRCC4 (rs: 28360135) allele and genotype frequencies observed in patients with SSc were not significantly different from those observed in controls; however, the XRCC1 Arg399Gln allele was associated with increased DNA damage only in healthy controls and the XRCC4 Ile401Thr allele was associated with increased DNA damage in both patients and controls. Further, the XRCC1 Arg399Gln allele was associated with the presence of antinuclear antibody and anticentromere antibody. No association was observed between these DNA repair gene polymorphic sites and clinical features of patients with SSc. These results corroborate the presence of genomic instability in SSc peripheral blood cells, as evaluated by increased DNA damage, and show that polymorphic sites of the XRCC1 and XRCC4 DNA repair genes may differentially influence DNA damage and the development of autoantibodies.
Subject: Adult
Alleles
Dna Damage
Dna Repair
Dna-binding Proteins
Female
Gene Frequency
Genomic Instability
Genotype
Humans
Male
Middle Aged
Polymorphism, Genetic
Scleroderma, Systemic
Comet Assay
Dna Damage
Dna Repair
Systemic Sclerosis
Xrcc1 And Xrcc4
Rights: fechado
Identifier DOI: 10.3899/jrheum.130376
Address: http://www.ncbi.nlm.nih.gov/pubmed/24488411
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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