Ferreirós-Vidal Isabel, Amarelo Juan, Barros Francisco, Carracedo Angel, Gómez-Reino Juan J, Gonzalez Antonio
Research Laboratory 2 and the Rheumatology Unit, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain.
J Rheumatol. 2003 Jan;30(1):102-4.
To investigate whether the 3 most common mutations in the NOD2 gene that confer susceptibility to Crohn's disease (CD) are also associated with ankylosing spondylitis (AS).
DNA from 112 patients with AS and 168 controls of homogenous Spanish ancestry were studied. The frequencies of the pathogenic alleles of NOD2 (3020insC, 2722G>C, and 2104C>T) were determined by analysis of the melting curves after hybridization with FRET probes on a Light Cycler real-time polymerase chain reaction (PCR) system. Results. NOD2 allelic frequencies in controls (3020insC, 0.009; 2722G>C, 0.009; 2104C>T, 0.042) did not significantly differ from patients with AS (3020insC, 0.009; 2722G>C, 0.004; 2104C>T, 0.031).
The 3 most common CD NOD2 mutations do not contribute to disease susceptibility to AS, and therefore do not explain the susceptibility locus for AS in chromosome 16q.
探讨赋予克罗恩病（CD）易感性的NOD2基因中3种最常见的突变是否也与强直性脊柱炎（AS）相关。
对112例AS患者以及168例具有西班牙裔血统的对照者的DNA进行研究。通过在Light Cycler实时聚合酶链反应（PCR）系统上与荧光共振能量转移（FRET）探针杂交后分析熔解曲线，来确定NOD2致病等位基因（3020insC、2722G>C和2104C>T）的频率。结果。对照者中NOD2等位基因频率（3020insC，0.009；2722G>C，0.009；2104C>T，0.042）与AS患者（3020insC，0.009；2722G>C，0.004；2104C>T，0.031）无显著差异。
NOD2基因中3种最常见的CD突变不会导致AS的疾病易感性，因此不能解释16号染色体上AS的易感位点。
