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01-01-2016 | Original Article - Genes and Disease

CCR5Δ32 (rs333) polymorphism is associated with the susceptibility to systemic lupus erythematosus in female Brazilian patients

Authors: Thiago Hissnauer Leal Baltus, Ana Paula Kallaur, Marcell Alysson Batisti Lozovoy, Helena Kaminami Morimoto, Francieli Delongui, Daniela Frizon Alfieri, Tatiane Mayumi Veiga Iriyoda, Isaias Dichi, Andrea Name Colado Simão, Edna Maria Vissoci Reiche

Published in: Rheumatology International | Issue 1/2016

Abstract

The role of CCR5Δ32 (rs333) polymorphism in the pathogenesis of systemic lupus erythematosus (SLE) has been evaluated worldwide. The aim of this study was to determine the association between CCR5Δ32 polymorphism with the susceptibility to SLE and the activity of disease in female Southern Brazilian patients. The study enrolled 169 female SLE patients and 132 unrelated female healthy individuals. Baseline clinical, laboratorial characteristics, and the SLE activity (determined using the SLEDAI) were evaluated according to the CCR5Δ32 genotypes. The CCR5Δ32 polymorphism was determined from genomic DNA using a polymerase chain reaction. The frequencies of the genotypes CCR5/CCR5, CCR5/CCR5Δ32, and CCR5Δ32/CCR5Δ32 were 87.6, 11.8, and 0.6 %, respectively, among the patients and 96.2, 3.8, and 0.0 %, respectively, among the controls [CCR5/CCR5 vs. CCR5/CCR5Δ32 + CCR5Δ32/CCR5Δ32: p = 0.0081, odds ratio 3.604 (95 % confidence interval 1.321–9.4836)]. The frequencies of the CCR5 and the CCR5Δ32 alleles were 93.2 and 6.8 % among the patients, and 98.1 and 1.9 % among the controls, respectively (p = 0.0047, OR 3.758, 95 % CI 1.409–10.80). Patients carrying the genotypes with the CCR5Δ32 allele presented earlier age of onset of disease (p = 0.0293) and higher levels of anti-dsDNA (p = 0.0255) than those carrying the wild-type genotype. When the analysis was adjusted for ethnicity, only the age at onset of disease remained significant (p > 0.05). The results suggest that the CCR5Δ32 polymorphism might be associated with SLE genetic predisposition among female Brazilian patients and the age at onset of the disease; however, this genetic variant was not associated with the activity of SLE in this population.

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Title: CCR5Δ32 (rs333) polymorphism is associated with the susceptibility to systemic lupus erythematosus in female Brazilian patients
Authors: Thiago Hissnauer Leal Baltus
Ana Paula Kallaur
Marcell Alysson Batisti Lozovoy
Helena Kaminami Morimoto
Francieli Delongui
Daniela Frizon Alfieri
Tatiane Mayumi Veiga Iriyoda
Isaias Dichi
Andrea Name Colado Simão
Edna Maria Vissoci Reiche
Publication date: 01-01-2016
Publisher: Springer Berlin Heidelberg
Published in: Rheumatology International / Issue 1/2016
Print ISSN: 0172-8172
Electronic ISSN: 1437-160X
DOI: https://doi.org/10.1007/s00296-015-3308-z

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