Gonzalez-Gay Miguel A, Oliver Javier, Sanchez Elena, Garcia-Porrua Carlos, Paco Laura, Lopez-Nevot Miguel A, Ollier William E R, Martin Javier
Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Granada, Spain.
J Rheumatol. 2005 Nov;32(11):2178-82.
To assess the contribution of 2 polymorphisms within the inducible nitric oxide (NOS2A) promoter region to susceptibility to giant cell arteritis (GCA).
One hundred three patients with biopsy-proven GCA and 198 ethnically matched controls from the Lugo region (Northwest Spain) were studied. Patients and controls were genotyped using polymerase chain reaction techniques for a multiallelic (CCTTT)n and for the TAAA repeat polymorphism in the promoter region of the NOS2A gene.
No significant differences in allele or genotype frequencies for the (CCTTT)n repeat polymorphism in the NOS2A gene between patients with GCA and controls were observed. However, significant differences for the TAAA repeat polymorphism between patients and controls were found. The overall distribution of NOS2A TAAA genotypes in patients with biopsy-proven GCA was significantly different than controls (p = 0.026). Patients with GCA had an increased frequency of the NOS2A TAAA+ allele (16.5%) compared with controls (9.1%) (p = 0.007; OR 1.98; 95% CI 1.20-3.27). This was due to an increased frequency of both heterozygotes (27.2%) and homozygotes (2.9%) for NOS2A TAAA+ observed in patients compared to controls (15.2% and 1.5%, respectively) (p = 0.007; OR 2.15; 95% CI 1.23-3.78).
Our results suggest a potential implication for NOS2A TAAA gene polymorphism in GCA susceptibility.
评估诱导型一氧化氮合酶（NOS2A）启动子区域内的两种多态性对巨细胞动脉炎（GCA）易感性的影响。
对103例经活检证实为GCA的患者和198名来自西班牙西北部卢戈地区种族匹配的对照者进行研究。采用聚合酶链反应技术对患者和对照者进行基因分型，检测NOS2A基因启动子区域的多等位基因（CCTTT）n和TAAA重复多态性。
未观察到GCA患者与对照者之间NOS2A基因（CCTTT）n重复多态性的等位基因或基因型频率存在显著差异。然而，发现患者与对照者之间TAAA重复多态性存在显著差异。经活检证实为GCA的患者中，NOS2A TAAA基因型的总体分布与对照者有显著差异（p = 0.026）。与对照者（9.1%）相比，GCA患者中NOS2A TAAA+等位基因的频率增加（16.5%）（p = 0.007；OR 1.98；95% CI 1.20 - 3.27）。这是由于与对照者相比，患者中NOS2A TAAA+杂合子（27.2%）和纯合子（2.9%）的频率均增加（分别为15.2%和1.5%）（p = 0.007；OR 2.15；95% CI 1.23 - 3.78）。
我们的结果表明NOS2A TAAA基因多态性可能与GCA易感性有关。
