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Ficolin Gene Polymorphisms in Systemic Lupus Erythematosus and Rheumatoid Arthritis
Author(s) -
Addobbati Catarina,
de Azevêdo Silva Jaqueline,
Tavares Nathália A. C.,
Monticielo Odirlei,
Xavier Ricardo M.,
Brenol João Carlos T.,
Crovella Sergio,
Chies José Artur B.,
SandrinGarcia Paula
Publication year - 2016
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12129
Subject(s) - rheumatoid arthritis , immunology , medicine , gene , arthritis , genetics , biology
Summary 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.