de Souza Thais B, Mentz Elisa F, Brenol Claiton V, Xavier Ricardo M, Brenol João C T, Chies José A, Simon Daniel
Curso de Biologia and Programa de Pós-Graduação em Diagnóstico Genético e Molecular, Universidade Luterana do Brasil, Canoas, Brazil.
J Rheumatol. 2008 Dec;35(12):2325-8. doi: 10.3899/jrheum.071326. Epub 2008 Nov 1.
Genetic and environmental factors seem to be involved in the onset of rheumatoid arthritis (RA). We analyzed whether a variable number of tandem repeats (VNTR) polymorphism in the aggrecan gene was associated to RA.
The study population comprised 170 European-derived Brazilian patients with diagnosis of RA. The control group comprised 148 European-derived Brazilian healthy blood donors. The aggrecan VNTR polymorphism was genotyped by DNA amplification by polymerase chain reaction, followed by electrophoresis in polyacrylamide gel.
There was a statistically significant higher frequency of alleles of shorter length in the patient group compared to controls (p = 0.001), suggesting that individuals carrying short alleles are more likely to develop RA. There was no association between short alleles and clinical characteristics of RA.
Our results provide evidence of an association between the aggrecan gene VNTR polymorphism and RA.
遗传和环境因素似乎与类风湿性关节炎（RA）的发病有关。我们分析了聚集蛋白聚糖基因中可变数量串联重复序列（VNTR）多态性是否与RA相关。
研究人群包括170名诊断为RA的欧洲裔巴西患者。对照组包括148名欧洲裔巴西健康献血者。通过聚合酶链反应进行DNA扩增，随后在聚丙烯酰胺凝胶中进行电泳，对聚集蛋白聚糖VNTR多态性进行基因分型。
与对照组相比，患者组中等位基因长度较短的频率在统计学上显著更高（p = 0.001），这表明携带短等位基因的个体更有可能患RA。短等位基因与RA的临床特征之间没有关联。
我们的结果提供了聚集蛋白聚糖基因VNTR多态性与RA之间存在关联的证据。
