Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis
Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis
复制标题
DOI：
10.1093/rheumatology/kem266
复制
发表时间：
2007-12-01
期刊：
影响因子：
5.5
通讯作者：
De Keyser, F.
中科院分区：
文献类型：
--
作者：
Cruyssen, B. Vander;Nuytinck, L.;De Keyser, F.
目标.我们研究了类风湿性关节炎（RA）与纤维胶凝蛋白（FCN）基因内单核苷酸多态性（SNP）的可能关联。研究了FCN 1基因的2个SNP、FCN 2基因的4个SNP和FCN 3基因的1个SNP。在由338名RA患者和595名对照组成的人群中，通过实验性INNO-LiPA方法（Innogenetics，Belgium）检测FCN基因内的SNP。在两个亚群中进一步评估了显著的SNPs，并将其与人类白细胞抗原共享表位（HLA-SE）、类风湿因子（RF）和抗瓜氨酸蛋白/肽抗体（ACPA）的存在相关。FCN 1基因中的两个SNP与RA显著相关：RA患者（67%）与对照组（60%）相比，A等位基因rs 2989727显著增加（P = 0.002）。RA患者rs 1071583的G等位基因频率（68%）高于对照组（61%）（P = 0.003）。SNPs之间的一致性分析表明rs 2989727和rs 1071583之间存在强连锁。携带FCN 1 SNP与携带HLA-SE、RF状态和ACPA阳性无关。我们描述了FCN 1基因中与RA发生相关的两个连锁SNPs。
Objectives. We investigated the possible association of rheumatoid arthritis (RA) with single nucleotide polymorphisms (SNP) within the ficolin (FCN) genes. Two SNPs in the FCN1 gene, four SNPs in the FCN2 gene and one SNP in the FCN3 gene were studied.Methods. The SNPs within the FCN genes were detected by an experimental INNO-LiPA methodology (Innogenetics, Belgium) in a population consisting of 338 RA patients and 595 controls. The significant SNPs were further evaluated in two subpopulations and related to carriage of the human leukocyte antigen-shared epitope (HLA-SE), rheumatoid factor (RF) and the presence of anti-citrullinated protein/peptide antibodies (ACPA).Results. Two SNPs in the FCN1 gene were significantly associated with RA: the A allele rs2989727 was significantly increased in RA patients (67%) compared with controls (60%) (P = 0.002). Also, the frequency of the G allele of rs1071583 was increased in RA patients (68%) compared with controls (61%) (P = 0.003). Analysis of agreement between SNPs suggested strong linkage between rs2989727 and rs1071583. Carriage of a FCN1 SNP was independent of carriage of the HLA-SE, RF status and ACPA positivity.Conclusions. We describe two linked SNPs in the FCN1 gene that are associated with the development of RA.