Amoli Mahsa M, Garcia-Porrua Carlos, Llorca Javier, Ollier William E R, Gonzalez-Gay Miguel A
Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK.
J Rheumatol. 2003 Sep;30(9):2019-22.
To assess the influence of endothelial nitric oxide synthase (eNOS) polymorphisms in the susceptibility to giant cell arteritis (GCA).
We studied 57 patients with biopsy-proven GCA diagnosed at the Rheumatology Division of Hospital Xeral-Calde and 117 ethnically matched controls. Patients and controls were genotyped by PCR for a variable number tandem repeat polymorphism in intron 4, a T/C polymorphism at position -786 in the promoter region, and a polymorphism in exon 7 (298Glu/Asp or 5557G/T) of the eNOS gene.
No differences in allele or genotype frequencies for individual polymorphisms were observed between patients with GCA and controls. However, when haplotype frequencies for the combination of the 3 eNOS polymorphisms were estimated, a significant increase in the frequency of haplotype C/1/T and a significant decrease in the frequency of haplotype C/1/G were observed in GCA patients compared to controls (p = 0.04, OR 1.8, 95% CI 1.0-3.3; p = 0.02, OR 0.3, 95% CI 0.1-0.8, respectively).
Significant differences in eNOS haplotype frequencies between GCA patients and controls may indicate a role for these polymorphisms in the susceptibility to this condition.
评估内皮型一氧化氮合酶（eNOS）基因多态性对巨细胞动脉炎（GCA）易感性的影响。
我们研究了在Xeral-Calde医院风湿科确诊的57例经活检证实的GCA患者以及117例种族匹配的对照。通过聚合酶链反应（PCR）对患者和对照的eNOS基因第4内含子可变数目串联重复多态性、启动子区域-786位的T/C多态性以及第7外显子（298Glu/Asp或5557G/T）多态性进行基因分型。
GCA患者与对照之间未观察到各多态性的等位基因或基因型频率存在差异。然而，当估计这3种eNOS多态性组合的单倍型频率时，与对照相比，GCA患者中观察到单倍型C/1/T频率显著增加，单倍型C/1/G频率显著降低（分别为p = 0.04，OR 1.8，95% CI 1.0 - 3.3；p = 0.02，OR 0.3，95% CI 0.1 - 0.8）。
GCA患者与对照之间eNOS单倍型频率存在显著差异，这可能表明这些多态性在该病易感性中起作用。
