Liu Dongxia, Yang Qingrui, Li Ming, Mu Kun, Zhang Yuanchao
Department of Rheumatology and Immunology, Shandong Provincial Hospital affiliated to Shandong University, Jinan 250021, Shandong, China.
Clin Invest Med. 2010 Feb 1;33(1):E63-8. doi: 10.25011/cim.v33i1.11839.
To investigate the role of a functional polymorphism consisting of an aspartic acid (D) repeat located in the asporin gene (ASPN) gene in the susceptibility to and clinical outcome of ankylosing spondylitis (AS).
A total of 374 Chinese patients with ankylosing spondylitis and 421 controls of the same ethnic origin matched for age and sex were included in the study. The asporin D repeat polymorphism was genotyped by polymerase chain reaction with a fluorescent primer.
Significant differences between AS patients and controls were detected in the distribution of the 7 alleles found in our population. D14 and D16 alleles were significantly over-represented in AS patients (D14, P=0.001, odds ratio (OR)=1.857, 95% confidence interval(CI) 1.27-2.715; and D16, P < 0.0001, OR=2.605, 95% CI 1.75-3.879). D16 over-representation was more common in early-onset patients than in late-onset patients, although the difference did not reach significance (P= 0.071).
The results support a role for an asporin D repeat polymorphism in the susceptibility to AS and an influence of this gene on the outcome of the disease. D14 and D16 allele variants of ASPN might be the susceptibility alleles for AS in the Han Chinese population, whereas the D13 allele variant may have a protective effect on the onset of AS.
研究位于阿聚糖蛋白基因（ASPN）中的天冬氨酸（D）重复序列功能性多态性在强直性脊柱炎（AS）易感性及临床结局中的作用。
本研究共纳入374例中国强直性脊柱炎患者及421例年龄和性别相匹配的同民族对照。采用荧光引物聚合酶链反应对阿聚糖蛋白D重复序列多态性进行基因分型。
在我们研究人群中发现的7个等位基因的分布上，AS患者与对照之间存在显著差异。D14和D16等位基因在AS患者中显著过度表达（D14，P = 0.001，比值比（OR）= 1.857，95%置信区间（CI）1.27 - 2.715；D16，P < 0.0001，OR = 2.605，95% CI 1.75 - 3.879）。D16过度表达在早发型患者中比晚发型患者更常见，但差异未达到显著水平（P = 0.071）。
结果支持阿聚糖蛋白D重复序列多态性在AS易感性中的作用以及该基因对疾病结局的影响。ASPN的D14和D16等位基因变异可能是汉族人群AS的易感等位基因，而D13等位基因变异可能对AS发病具有保护作用。
