title: Mannose-binding lectin gene polymorphisms in Brazilian patients with systemic lupus erythematosus.
abstract: The mannose-binding lectin gene (MBL-2) has emerged as a candidate for systemic lupus erythematosus susceptibility, but studies in Brazilian population have not been conducted. To examine potential associations of mannose-binding lectin alleles G57E, G54D, IVSnt5, R52C and R52H with susceptibility to and clinical expression of systemic lupus erythematosus in southern Brazilian patients, we conducted a case-control study with 327 consecutive patients with diagnosis of systemic lupus erythematosus and 345 healthy controls. Genotyping was performed by restriction fragment length polymorphism-polymerase chain reaction assay. A statistically significant difference in the frequencies of allele R52C was observed in European-derived systemic lupus erythematosus patients when compared with controls (9.6% vs. 3.3%, p < 0.001, odds ratio: 3.15, 95% confidence interval: 1.76-5.62, p < 0.05). The frequencies of alleles G54D and G57E were not different between European-derived systemic lupus erythematosus patients and controls. There were no differences between clinical and laboratory features in systemic lupus erythematosus patients according to the presence or absence of mannose-binding lectin allelic variants. These results support an increased risk of systemic lupus erythematosus in European-derived individuals carrying allele R52C. Patients carrying this allele have an approximately three-fold higher odds ratio of developing systemic lupus erythematosus when compared with controls. Our data do not support associations between the mannose-binding lectin allelic variants studied and clinical expression of systemic lupus erythematosus.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Brazil. omonticielo@yahoo.com.br
authors.forename: O A
authors.initials: OA
authors.lastname: Monticielo
authors.forename: J A B
authors.initials: JA
authors.lastname: Chies
authors.forename: T
authors.initials: T
authors.lastname: Mucenic
authors.forename: G G
authors.initials: GG
authors.lastname: Rucatti
authors.forename: J M Z
authors.initials: JM
authors.lastname: Júnior
authors.forename: G K
authors.initials: GK
authors.lastname: da Silva
authors.forename: N
authors.initials: N
authors.lastname: Glesse
authors.forename: B P
authors.initials: BP
authors.lastname: dos Santos
authors.forename: J C T
authors.initials: JC
authors.lastname: Brenol
authors.forename: R M
authors.initials: RM
authors.lastname: Xavier
mesh_terms: D000328:Adult; D000483:Alleles; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D037601:Mannose-Binding Lectin