强直性脊柱炎的分子遗传学研究进展

Advances in the molecular genetics of the ankylosing spondylitis

强直性脊柱炎（ankylosing spondylitis，AS）是一种主要累及脊柱及骶髋关节的慢性风湿性疾病。目前认为该病是血清反应阴性脊椎关节炎的原型疾病，As除侵犯脊柱外还可侵犯外周关节，且可累及眼、肠、主动脉根等组织器官。As的发病机制尚不明确，普遍认为AS是一种遗传性疾病，受遗传因素与环境的共同作用而发病。研究认为HLA．B27是引发As最关键基因，并产生了与HLA·B27相关的三种假说。该文就AS分子遗传学及发病的相关因素作一综述。

Ankylosing spondylitis （AS） is a chronic rheumatic disease involving the spine and sacral hip. AS is the prototype disease of seronegative arthritis of the spine. Besides the violations of the spine, AS can also lead to violations of the peripheral joints, even the eyes, intestine, aortic root, and other tissues and organs. The pathogenesis of AS has remained unclear. AS, a genetic disease, is influenced by the genetic and environ- mental factors. Studies have suggested that HLA-B27 is the most critical genes to AS, and forming three kinds of hypotheses associated with HLA-B27. This paper reviews the molecular genetics and pathogenesis of AS.