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, Sandrin-Garcia Paula
Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
Keizo Asami Immunopathology Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
Ann Hum Genet. 2016 Jan;80(1):1-6. doi: 10.1111/ahg.12129. Epub 2015 Oct 14.
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.
系统性红斑狼疮（SLE）和类风湿性关节炎（RA）是复杂的自身免疫性疾病，其特征是免疫平衡破坏和慢性炎症。多项研究结果将SLE和RA的发展与补体系统联系起来，纤维胶凝蛋白成分已成为疾病发展的候选因素。由于尚未在巴西人群中对SLE和RA患者进行纤维胶凝蛋白基因的遗传关联研究，本研究的目的是确定纤维胶凝蛋白-1（FCN1）和纤维胶凝蛋白-2（FCN2）基因的多态性是否与SLE和RA的易感性以及疾病表现相关。在巴西东南部人群的208例SLE患者、184例RA患者以及264名健康个体中，研究了FCN1基因内的两个单核苷酸多态性（SNP）（rs2989727和1071583）以及FCN2基因内的三个SNP（rs17514136、rs3124954和rs7851696）。对于SLE患者，FCN2基因的rs17514136 SNP与更严重的疾病（SLICC）相关（p = 0.0067）。此外，观察到肾炎的发生与FCN2基因rs3124954 SNP的T/T基因型之间存在关联（p = 0.047，OR = 3.17，95%CI = 1.34 - 7.5）。在所研究的多态性与RA发展之间未观察到关联。因此，我们的数据支持FCN2基因参与SLE表型。
