title: Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians.
abstract: Susceptibility to systemic lupus erythematosus (SLE) has been associated with immunologic, environmental, and genetic factors. To uncover a possible association between MBL2 gene polymorphisms and SLE, we analyzed functional polymorphisms in the promoter and first exon of the MBL2 gene in 134 Brazilian SLE patients and 101 healthy controls. Genotype and allele frequencies of MBL2 A/O polymorphism were significantly different between patients and controls, and the O allele was associated with an increased risk of SLE. An association between low mannose binding lectin (MBL) producer combined genotypes and increased risk for SLE was also reported. Furthermore, when stratifying SLE patients according to clinical and laboratory data, an association between the A/O genotype and nephritic disorders and between the X/Y genotype and antiphospholipid syndrome was evident. Combined genotypes responsible for low MBL production were more frequently observed in SLE patients with nephritis. Our results indicate MBL2 polymorphisms as possible risk factors for SLE development and disease-related clinical manifestations.
authors.affiliation: Laboratory of Immunopathology Keizo Asami, Federal University of Pernambuco, Recife, Brazil.
authors.forename: Paula
authors.initials: P
authors.lastname: Sandrin-Garcia
authors.forename: Lucas André Cavalcanti
authors.initials: LA
authors.lastname: Brandão
authors.forename: Antônio Victor Campos
authors.initials: AV
authors.lastname: Coelho
authors.forename: Rafael Lima
authors.initials: RL
authors.lastname: Guimarães
authors.forename: João Alexandre Trés
authors.initials: JA
authors.lastname: Pancoto
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Eduardo Antônio
authors.initials: EA
authors.lastname: Donadi
authors.forename: José Luiz
authors.initials: JL
authors.lastname: de Lima-Filho
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D044382:Population Groups; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin