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Title of Journal: Mol Biol Rep

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Abbravation: Molecular Biology Reports

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Springer Netherlands

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DOI

10.1002/chin.199939224

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1573-4978

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Emphasis Type="Italic"LIG4/Emphasis and Empha

Authors: Jaqueline De Azevêdo Silva João Alexandre Trés Pancotto Eduardo Antônio Donadi Sergio Crovella Paula SandrinGarcia
Publish Date: 2014/01/12
Volume: 41, Issue: 4, Pages: 2249-2256
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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 Caucasianderived patients as more susceptible to cutaneous and hematological alterations than the Africanderived To our knowledge this is the first association study involving LIG4 and RAD52 genes and SLE predisposition

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