Alberta Heritage Foundation for Medical Research, Professor of Medicine, University of Alberta, Canada.
Clin Exp Rheumatol. 2009 Jul-Aug;27(4 Suppl 55):S20-5.
Both ankylosing spondylitis (AS) and rheumatoid arthritis (RA) are common, highly heritable conditions, the pathogenesis of which are incompletely understood. Gene-mapping studies in both conditions have over the last couple of years made major breakthroughs in identifying the mechanisms by which these diseases occur. Considering RA, there is an over-representation of genes involved in TNF signalling and the NFKappaB pathway that have been shown to influence the disease risk. There is also considerable sharing of susceptibility genes between RA and other autoimmune diseases such as systemic lupus erythematosus, type 1 diabetes, autoimmune thyroid disease and celiac disease, with thus far little overlap with AS. In AS, genes involved in response to IL12/IL23, and in endoplasmic reticulum peptide presentation, have been identified, but a full genomewide association study has not yet been reported.
强直性脊柱炎（AS）和类风湿关节炎（RA）都是常见的、高度遗传性疾病，其发病机制尚不完全清楚。过去几年中，这两种疾病的基因图谱研究在确定这些疾病发生的机制方面取得了重大突破。就 RA 而言，涉及 TNF 信号转导和 NFKappaB 途径的基因过度表达，这些基因已被证明会影响疾病风险。RA 与其他自身免疫性疾病（如系统性红斑狼疮、1 型糖尿病、自身免疫性甲状腺疾病和乳糜泻）之间也存在大量的易感基因共享，与 AS 的重叠很少。在 AS 中，已鉴定出参与 IL12/IL23 反应和内质网肽呈递的基因，但尚未报道全基因组关联研究。
