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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。“,”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 suscepti-bility loci,such as endoplasmic reticulum 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.