title: Ficolin Gene Polymorphisms in Systemic Lupus Erythematosus and Rheumatoid Arthritis.
abstract: Systemic lupus erythemathosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune diseases characterized by an immune balance breakdown and by chronic inflammation. Several findings link SLE and RA development with the complement system and ficolin components have emerged as candidates for disease development. Since genetic association studies with ficolin genes in SLE and RA have not yet been conducted in a Brazilian population, the aim of this study was to determine whether polymorphisms of ficolin-1(FCN1) and ficolin-2 (FCN2) genes are associated with SLE and RA susceptibility as well as disease manifestation. Two SNPs within FCN1 (rs2989727 and 1071583) and three in FCN2 (rs17514136, rs3124954, and rs7851696) were studied in 208 SLE and184 RA patients as well as 264 healthy individuals in a Southeast Brazilian population. For SLE patients, the FCN2 rs17514136 SNP was associated with a more severe disease (SLICC) (p = 0.0067). Furthermore, an association between the occurrence of nephritis and the T/T genotype for FCN2 rs3124954 SNP (p = 0.047, OR = 3.17, 95%CI = 1.34-7.5) was observed. No association was observed between the studied polymorphisms and RA development. Thus, our data support involvement of the FCN2 gene in the SLE phenotype.
authors.affiliation: Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.|Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Catarina
authors.initials: C
authors.lastname: Addobbati
authors.affiliation: Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Jaqueline
authors.initials: J
authors.lastname: de Azevêdo Silva
authors.affiliation: Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Nathália A C
authors.initials: NA
authors.lastname: Tavares
authors.affiliation: Division of Rheumatology, Clinical Hospital, Federal University of Rio Grande do Sul, Brazil.
authors.forename: Odirlei
authors.initials: O
authors.lastname: Monticielo
authors.affiliation: Division of Rheumatology, Clinical Hospital, Federal University of Rio Grande do Sul, Brazil.
authors.forename: Ricardo M
authors.initials: RM
authors.lastname: Xavier
authors.affiliation: Division of Rheumatology, Clinical Hospital, Federal University of Rio Grande do Sul, Brazil.
authors.forename: João Carlos T
authors.initials: JC
authors.lastname: Brenol
authors.affiliation: Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.|Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.affiliation: Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: José Artur B
authors.initials: JA
authors.lastname: Chies
authors.affiliation: Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.|Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Paula
authors.initials: P
authors.lastname: Sandrin-Garcia
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics*; D001938:Brazil; D016022:Case-Control Studies; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D037102:Lectins / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D000097604:Ficolins
chemical_list: D037102:Lectins; D000097604:Ficolins
keywords: Autoimmunity; complement system; genetic variants; rheumatology