Suzuki Akari, Yamada Ryo, Yamamoto Kazuhiko
Laboratory for Rheumatic Diseases, SNP Research Center, The Institute of Physical and Chemical Research (RIKEN), 1-7-22, Suehirocho, Tsurumi-ku, Yokohama City, Kanagawa, Japan.
Ann N Y Acad Sci. 2007 Jun;1108:323-39. doi: 10.1196/annals.1422.034.
Rheumatoid arthritis (RA) is a complex, multifactorial disease with genetic and immunological aspects. Because RA is an autoimmune condition, dysregulation of the immune system is implied. Many linkage and association studies have also indicated that multiple genetic factors are associated with RA. Although the contribution of each genetic factor is small, the combination of these factors affects RA development. Previous studies have suggested that genetic changes affect the internal immunological environment, which results in autoimmune diseases. More recent genetic studies indicate that the HLA-DRB gene is the predominant cause of RA and that other non-HLA genes are also involved. We reported that peptidylarginine deiminase (gene name abbreviated to PADI, protein name abbreviated to PAD) type 4 is the one of the non-HLA genetic factors involved in RA via citrullination. Antibodies against citrullinated proteins/peptides are highly specific to RA, but the physiological roles of PADI gene, PAD proteins as their products and citrullinated proteins/peptides are obscure. However, levels of anticitrullinated protein antibodies are apparently also increased and were involved in the pathogenesis of autoimmune arthritis in mice with collagen-induced arthritis (CIA). These data suggested that citrullinated protein and anticitrullinated protein antibodies play important roles in the development of RA. This review summarizes the relationship between RA and citrullination, as well as the role of PADI4 genetics.
类风湿关节炎(RA)是一种具有遗传和免疫因素的复杂多因素疾病。由于RA是一种自身免疫性疾病,意味着免疫系统失调。许多连锁和关联研究也表明,多种遗传因素与RA相关。尽管每个遗传因素的作用较小,但这些因素的组合会影响RA的发展。先前的研究表明,基因变化会影响内部免疫环境,从而导致自身免疫性疾病。最近的遗传学研究表明,HLA - DRB基因是RA的主要病因,其他非HLA基因也有涉及。我们报道了肽基精氨酸脱亚氨酶(基因名称缩写为PADI,蛋白质名称缩写为PAD)4型是通过瓜氨酸化参与RA的非HLA遗传因素之一。抗瓜氨酸化蛋白/肽的抗体对RA具有高度特异性,但PADI基因、作为其产物的PAD蛋白以及瓜氨酸化蛋白/肽的生理作用尚不清楚。然而,在胶原诱导性关节炎(CIA)小鼠中,抗瓜氨酸化蛋白抗体水平也明显升高,并参与了自身免疫性关节炎的发病机制。这些数据表明,瓜氨酸化蛋白和抗瓜氨酸化蛋白抗体在RA的发展中起重要作用。本综述总结了RA与瓜氨酸化之间的关系以及PADI4遗传学的作用。