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.

The Clinical Value of Ficolin-3 Gene Polymorphism in Rheumatic Heart Disease. An Egyptian Adolescents Study

“…Repeated or severe episodes of RF lead to permanent harm to the heart valves, bringing about rheumatic heart disease (RHD); the wellknown acquired cardiovascular disease in youth. In 2015, the prevalence of RHD was estimated to be 33,194,900 patients in RHD-endemic countries, while there were only 221,600 patients in non-endemic countries [3]. The evaluated RHD prevalence in nations with low-income and middle-income ranges from 2.7 to 51 cases per 1,000 population for clinically apparent and clinically silent RHD sequentially [3].…”

“…Ficolin-3 is encoded by the FCN3 gene which is located on chromosome 1p36 and contains eight exons. Few studies showed an association between collectin and colin genes polymorphisms and infectious and autoimmune diseases [31][32][33][34][35][36]. It was shown that there are some associations between gene polymorphisms of MBL [37][38][39][40], Ficolin-1 [16], Ficolin-2 [41] [42], and MASP-2 [43] with RF.…”

Autoantibodies Targeting Ficolin‐2 in Systemic Lupus Erythematosus Patients With Active Nephritis

“…However ficolin‐2 measurement has been shown to be strongly dependent on experimental variations and blood sample handling procedures, rendering the correlation with clinical features questionable in the absence of standardized measurement . In addition, a genetic study reported the association of ficolin‐2 gene polymorphisms with nephritis in SLE patients .…”

Lectin pathway factors in patients suffering from juvenile idiopathic arthritis

“…Some polymorphisms affect serum concentration of the corresponding protein and/or its structure (therefore influencing protein activity). It has been considered that certain functional variants of these genes may be associated with higher risk of development or severity of rheumatoid arthritis or rheumatic heart disease 15 , 16 , 17 , 18 …”

“…It has been considered that certain functional variants of these genes may be associated with higher risk of development or severity of rheumatoid arthritis or rheumatic heart disease. [15][16][17][18] In some cases, arthropathy may be associated with infections. One example is reactive arthritis.…”