中文摘要：

强直性脊柱炎（AS）是一种涉及多种危险因素的复杂性疾病,主要为遗传和环境两方面因素,其中人类白细胞抗原（HLA）-B27是AS的主要易患基因。非主要组织相容复合体易患基因位点,如内质网氨基肽酶（ERAP）1和白细胞介素23受体（IL-23R）,可能参与关节炎症的发生。近年对于AS发病机制的研究已经取得较大进展,但功能变异型的识别和确认仍然是全基因组关联研究最重大的挑战,直接参与关节强直进展的AS相关易患基因在全基因组关联研究中仍不清楚。

英文摘要：

Ankylosing spondylitis （AS） is a. complex disease involving multiple risk factors, namely genetic and environmental factors. Human leukocyte antigen（HLA）-B27 was found to be the major suscepti- bility gene of AS, furthermore, some studies also found that non-major histocompatibility complex susceptibility loci ,such as endoplasmie retieulum aminopeptidase（ERAP） 1 and interleukin-23 receptor（ IL-23R）, may contribute to joint inflammation. Despite great progress has been made in recent years, identification and confirmation of functional variants remains a significant challenge of genome-wide association studies （GWAS）. It remains unclear that none of the AS-susceptibility genes identified in GWAS appear to be directly involved in the ankylosing process.