纤维胶凝蛋白1基因（FCN1）的多态性与类风湿关节炎发病的易感性相关。
Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis.
作者信息
Vander Cruyssen B, Nuytinck L, Boullart L, Elewaut D, Waegeman W, Van Thielen M, De Meester E, Lebeer K, Rossau R, De Keyser F
机构信息
Department of Rheumatology, Ghent University Hospital, B-9000 Ghent, Belgium.
出版信息
Rheumatology (Oxford). 2007 Dec;46(12):1792-5. doi: 10.1093/rheumatology/kem266.
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.
目的
我们研究了类风湿关节炎（RA）与纤维胶凝蛋白（FCN）基因内单核苷酸多态性（SNP）之间可能存在的关联。对FCN1基因中的两个SNP、FCN2基因中的四个SNP以及FCN3基因中的一个SNP进行了研究。
方法
采用实验性的INNO-LiPA方法（比利时Innogenetics公司），在一个由338例RA患者和595名对照组成的人群中检测FCN基因内的SNP。对有显著意义的SNP在两个亚组中进一步评估，并与人类白细胞抗原共享表位（HLA-SE）、类风湿因子（RF）的携带情况以及抗瓜氨酸化蛋白/肽抗体（ACPA）的存在情况相关联。
结果
FCN1基因中的两个SNP与RA显著相关：与对照组（60%）相比，RA患者中rs2989727的A等位基因显著增加（67%）（P = 0.002）。此外，与对照组（61%）相比，RA患者中rs1071583的G等位基因频率增加（68%）（P = 0.003）。SNP之间的一致性分析表明rs2989727和rs1071583之间存在强连锁。FCN1 SNP的携带情况与HLA-SE的携带情况、RF状态和ACPA阳性无关。
结论
我们描述了FCN1基因中两个与RA发生相关的连锁SNP。
Zotero 插件