title: CCR5delta32 in systemic lupus erythematosus: implications for disease susceptibility and outcome in a Brazilian population.
abstract: The aim of this study was to analyze the allelic and genotypic frequencies of the CCR5delta32 polymorphism in systemic lupus erythematosus (SLE) patients and to investigate a possible association of this allele with SLE susceptibility and clinical outcome. A total of 367 SLE patients and 435 healthy controls were genotyped for the CCR5delta32 polymorphism. We observed that, in European-derived individuals, the frequency of the CCR5delta32 allele was smaller in patients than in controls (2.7% vs. 7.5%, OR 0.34, 95% CI 0.17-0.65, p Bonf=0.002), suggesting that this allele could be considered a protective factor for the disease. Regarding clinical manifestations, we observed that CCR5delta32 female African-derived carrier patients presented a higher predisposition to class IV nephritis when compared with absent nephritis/other class group (13.8% vs. 3.8%, OR 37.1, 95% CI 2.8-1854.7, p Bonf=0.030). A multivariate analysis including all female patients and controlling for the presence or absence of anti-dsDNA antibodies, ethnicity and age at diagnosis showed an increased relative risk of 3.9 times for patients carrying the CCR5delta32 allele to develop class IV nephritis as compared with noncarriers. Our data suggest that the CCR5delta32 allele is a protective factor for the disease in European-derived patients and a susceptibility factor to class IV nephritis in African-derived female patients.
authors.affiliation: Immunogenetics Laboratory, Genetics Department, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Brazil.
authors.forename: J S
authors.initials: JS
authors.lastname: Schauren
authors.forename: J A
authors.initials: JA
authors.lastname: Marasca
authors.forename: T D
authors.initials: TD
authors.lastname: Veit
authors.forename: O A
authors.initials: OA
authors.lastname: Monticielo
authors.forename: R M
authors.initials: RM
authors.lastname: Xavier
authors.forename: J C T
authors.initials: JC
authors.lastname: Brenol
authors.forename: J A B
authors.initials: JA
authors.lastname: Chies
mesh_terms: D000328:Adult; D000483:Alleles; D044383:Black People; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D011110:Polymorphism, Genetic; D019713:Receptors, CCR5 / Q000235:genetics*; D012737:Sex Factors; D044465:White People
chemical_list: C584933:CCR5 protein, human; D019713:Receptors, CCR5
keywords: Autoimmunity; CCR5; CCR5delta32; lupus nephritis; systemic lupus erythematosus