Wordsworth P
Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Nuffield Orthopaedic Centre, United Kingdom.
Rheum Dis Clin North Am. 1998 Nov;24(4):845-63. doi: 10.1016/s0889-857x(05)70045-4.
Ankylosing spondylitis is a highly genetic disease, with up to 98% of the population variance genetically determined. The major genetic effect arises from HLA-B27, but other HLA class I molecules, including HLA-B60, also play a role. HLA class II association may indicate either an independent effect for these genes or the existence of extended MHC haplotype containing other relevant genetic loci. The HLA-linked component of the genetic contribution to AS is substantially less than 50%, and preliminary analysis of affected sibling pairs by whole genome screening has revealed several potential regions of interest. The next 5 years should lead to the confirmation of some of these linkages, their refinement, and the testing of candidate genes within them. Ultimately, a better understanding of the genetic etiology of AS should yield insight into the pathogenic mechanisms and the development of novel strategies for treatment and prevention.
强直性脊柱炎是一种高度遗传性疾病,高达98%的人群变异由基因决定。主要的基因效应源自HLA - B27,但其他HLA I类分子,包括HLA - B60,也发挥作用。HLA II类关联可能表明这些基因具有独立效应,或者存在包含其他相关基因座的扩展MHC单倍型。HLA相关的基因对AS的贡献显著小于50%,通过全基因组筛查对患病同胞对进行的初步分析已经揭示了几个潜在的感兴趣区域。未来5年应该能够确认其中一些连锁关系,对其进行细化,并对其中的候选基因进行检测。最终,对AS遗传病因的更好理解应该能够深入了解其致病机制,并开发出治疗和预防的新策略。