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Study of DNASE I gene polymorphisms in systemic lupus erythematosus susceptibility
  1. Ana Bodaño1,
  2. Antonio González1,
  3. Eva Balada2,
  4. Josep Ordi2,
  5. Patricia Carreira3,
  6. Juan J Gómez-Reino1,4,
  7. Carmen Conde1
  1. 1Research Laboratory and Rheumatology Unit, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain
  2. 2Internal Medicine, Research Laboratory in Autoimmune Diseases, Hospital Vall d’Hebron, Barcelona, Spain
  3. 3Rheumatology Unit, Hospital 12 de Octubre, Madrid, Spain
  4. 4Department of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain
  1. Correspondence to:
    Dr C Conde
    Laboratorio de Investigación 5, Hospital Clínico Universitario de Santiago, 15706- Santiago de Compostela A Coruña, Spain; carmen.conde.muro{at}sergas.es

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Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterised by a broad spectrum of autoantibodies directed to ubiquitous intracellular antigens. DNase I is a key enzyme implicated in the clearance of extracellular DNA,1 and several studies point to defective DNase I as an important player in development of SLE.2–5 Yasutomo et al described two Japanese girls with SLE bearing a non-sense mutation, leading to a non-functional protein.4 We have described two Spanish patients with SLE with different mutations in the DNASE I gene and very low serum DNase I activity.5 Overall these mutations are very rare and do not explain the low DNase I activity found in most patients with SLE.

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