Association between severe disease course and nephritis with Q222R polymorphism in DNAse I gene among lupus patients: An Argentine multicenter study

Autor: Camicia, G., Aranda, F., Muñoz, S. A., Allievi, A., Orden, A. O., Trobo, R., Eimon, A., Barreira, J. C., Schneeberger, E., Sarano, J., Hofman, J., Perés Wingeyer, S., Gabriela de Larrañaga
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: Acta Reumatológica Portuguesa, Vol 2016, Iss 2, Pp 138-144 (2016)
Scopus-Elsevier
Popis: Objetives: Systemic lupus erythematosus is a multifactorial autoimmune disease and the glomerulonephritis is one of the most severe complications, which leads to severe persistent proteinuria, chronic renal failure, and end-stage renal disease. This multicenter study investigated the genetic associations of a non-synonymous single-nucleotide polymorphism in DNase I with the risk of lupus and its influence on development of nephropathy in an Argentinean population. Methods: Using the Polymerase chain reaction restriction fragment length polymorphism method, the Q222R (+2373A→G; Gln244Arg) DNase I polymorphism was studied in 156 systemic lupus erythematosus patients and 170 healthy controls. Results: Although no significant association between Q222R polymorphism and the risk of systemic lupus erythematosus was found, the presence of the A allele was associated with an increased risk for the development of nephropathy (p=0.019, Odd Ratio=2.196, 95 % confidence interval [1.135-4.247]) and a worse disease course [moderate disease course: p=0.006, Odd Ratio=3.250, 95% confidence interval (1.401-7.539); severe disease course: p=0.040, Odd Ratio=2.339, 95% confidence interval (1.040-5.260)]. Conclusions: A better understanding of the genetic basis of systemic lupus erythematosus will help in the development of new and more effectives strategies for the treatment of the disease in the future.
Databáze: OpenAIRE
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