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LIG4 and RAD52 DNA repair genes polymorphisms and systemic lupus erythematosus

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Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disorder with a strong genetic background. Nevertheless, SLE might also be triggered due to environmental factors, such as UV light exposure. DNA double strand breaks (DSBs) may be induced secondarily by UV radiation, increasing DNA immunogenicity and in SLE patients DNA repair is diminished, allowing the accumulation of DSBs and genomic instability. LIG4 and RAD52 genes play important roles in DNA repair mechanisms and a recent microarray analysis showed their differential expression in active SLE patients. In this study we investigated a potential association between LIG4 and RAD52 single nucleotide polymorphisms (SNPs) and SLE predisposition in a Southeast Brazilian population. We assessed four Tag SNPs in LIG4 and three in RAD52 gene region, encompassing most of the gene sequence, in 158 SLE patients and 212 healthy controls. We also performed SNPs analysis considering clinical manifestation, gender and ethnicity in SLE patients. Our data did not show association between LIG4 and RAD52 SNPs and SLE, its clinical manifestations or ethnicity in the tested population. The analysis regarding ethnicity and SLE clinical manifestations indicated Caucasian-derived patients as more susceptible to cutaneous and hematological alterations than the African-derived. To our knowledge, this is the first association study involving LIG4 and RAD52 genes and SLE predisposition.

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Acknowledgments

This work was supported by the Brazilian funding agencies: Capes, CNPq and FACEPE. We also like to thank Dr. Rafael Guimarães for reading and providing insightful suggestions to the manuscript.

Conflict of interest

None of the authors has any potential financial conflict of interest related to this manuscript.

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Authors and Affiliations

  1. Department of Genetics, Federal University of Pernambuco, Av. Moraes Rego, 1235, Recife, Pernambuco, CEP 50740-600, Brazil

    Jaqueline De Azevêdo Silva, Sergio Crovella & Paula Sandrin-Garcia

  2. Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil

    Jaqueline De Azevêdo Silva, Sergio Crovella & Paula Sandrin-Garcia

  3. Federal University of Espírito Santo, UFES, São Mateus, Espírito Santo, Brazil

    João Alexandre Trés Pancotto

  4. Division of Clinical Immunology, Department of Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil

    Eduardo Antônio Donadi

Authors
  1. Jaqueline De Azevêdo Silva
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  2. João Alexandre Trés Pancotto
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  3. Eduardo Antônio Donadi
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  4. Sergio Crovella
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  5. Paula Sandrin-Garcia
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Corresponding author

Correspondence to Paula Sandrin-Garcia.

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De Azevêdo Silva, J., Pancotto, J.A.T., Donadi, E.A. et al. LIG4 and RAD52 DNA repair genes polymorphisms and systemic lupus erythematosus. Mol Biol Rep 41, 2249–2256 (2014). https://doi.org/10.1007/s11033-014-3076-y

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  • DOI: https://doi.org/10.1007/s11033-014-3076-y

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