title: CCR5Δ32 (rs333) polymorphism is associated with the susceptibility to systemic lupus erythematosus in female Brazilian patients.
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.
authors.affiliation: Health Sciences Postgraduate Program, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil.
authors.forename: Thiago Hissnauer Leal
authors.initials: TH
authors.lastname: Baltus
authors.affiliation: Health Sciences Postgraduate Program, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil.
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Kallaur
authors.affiliation: Department of Pathology, Clinical Analysis, and Toxicology, Health Sciences Center, State University of Londrina, Av. Robert Koch, 60, CEP 86.038-440, Londrina, Paraná, Brazil.
authors.forename: Marcell Alysson Batisti
authors.initials: MA
authors.lastname: Lozovoy
authors.affiliation: Department of Pathology, Clinical Analysis, and Toxicology, Health Sciences Center, State University of Londrina, Av. Robert Koch, 60, CEP 86.038-440, Londrina, Paraná, Brazil.
authors.forename: Helena Kaminami
authors.initials: HK
authors.lastname: Morimoto
authors.affiliation: Health Sciences Postgraduate Program, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil.
authors.forename: Francieli
authors.initials: F
authors.lastname: Delongui
authors.affiliation: Health Sciences Postgraduate Program, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil.
authors.forename: Daniela Frizon
authors.initials: DF
authors.lastname: Alfieri
authors.affiliation: Outpatient Clinic for Rheumatology, University Hospital, State University of Londrina, Londrina, Paraná, Brazil.
authors.forename: Tatiane Mayumi Veiga
authors.initials: TM
authors.lastname: Iriyoda
authors.affiliation: Department of Internal Medicine, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil.
authors.forename: Isaias
authors.initials: I
authors.lastname: Dichi
authors.affiliation: Department of Pathology, Clinical Analysis, and Toxicology, Health Sciences Center, State University of Londrina, Av. Robert Koch, 60, CEP 86.038-440, Londrina, Paraná, Brazil.
authors.forename: Andrea Name Colado
authors.initials: AN
authors.lastname: Simão
authors.affiliation: Department of Pathology, Clinical Analysis, and Toxicology, Health Sciences Center, State University of Londrina, Av. Robert Koch, 60, CEP 86.038-440, Londrina, Paraná, Brazil. reiche@sercomtel.com.br.
authors.forename: Edna Maria Vissoci
authors.initials: EM
authors.lastname: Reiche
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D001938:Brazil; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D019713:Receptors, CCR5 / Q000235:genetics*
chemical_list: C584933:CCR5 protein, human; D019713:Receptors, CCR5
keywords: CCR5; Chemokine receptor; Genetic polymorphism; Systemic lupus erythematosus