Salvarani Carlo, Casali Bruno, Nicoli Davide, Farnetti Enrico, Macchioni Pierluigi, Catanoso Maria Grazia, Chen Qingquan, Bajocchi GianLuigi, Boiardi Luigi
Arcispedale S. Maria Nuova, Reggio Emilia, Italy.
Arthritis Rheum. 2003 Nov;48(11):3219-23. doi: 10.1002/art.11307.
To examine potential associations of the Glu/Asp(298) polymorphism in exon 7 and the 4a/b polymorphism in intron 4 of the endothelial nitric oxide synthase (eNOS) gene with susceptibility to and clinical expression of giant cell arteritis (GCA), particularly in patients with versus those without ischemic complications.
Ninety-one consecutive patients with biopsy-proven GCA, who were residents of Reggio Emilia, Italy, and 133 population-based controls from the same geographic area were genotyped by polymerase chain reaction and allele-specific oligonucleotide techniques for eNOS polymorphisms in exon 7 and intron 4. The patients were separated into 2 subgroups according to the presence or absence of ischemic complications (visual loss and/or jaw claudication and/or aortic arch syndrome).
The distribution of the Glu/Asp(298) genotype differed significantly between GCA patients and controls (corrected P [P(corr)] = 0.003). Carriers of the Asp(298) allele (Asp/Asp or Glu/Asp) were significantly more frequent among the GCA patients than among the controls (P(corr) = 0.0002, odds ratio 3.3, 95% confidence interval 1.7-6.3). The distribution of the 4a/b genotype was similar in GCA patients and controls. No significant associations were found when GCA patients with and without ischemic complications were compared.
Our findings show that the Glu/Asp(298) polymorphism of the eNOS gene is associated with GCA susceptibility.
研究内皮型一氧化氮合酶（eNOS）基因第7外显子的Glu/Asp(298)多态性和第4内含子的4a/b多态性与巨细胞动脉炎（GCA）易感性及临床表型的潜在关联，尤其在有或无缺血性并发症的患者中的情况。
采用聚合酶链反应和等位基因特异性寡核苷酸技术，对91例经活检证实为GCA的意大利雷焦艾米利亚居民患者以及来自同一地理区域的133名基于人群的对照进行第7外显子和第4内含子eNOS多态性基因分型。根据是否存在缺血性并发症（视力丧失和/或颌部跛行和/或主动脉弓综合征）将患者分为两个亚组。
GCA患者和对照之间Glu/Asp(298)基因型分布存在显著差异（校正P值[P(corr)] = 0.003）。Asp(298)等位基因携带者（Asp/Asp或Glu/Asp）在GCA患者中显著多于对照（P(corr) = 0.0002，比值比3.3，95%置信区间1.7 - 6.3）。4a/b基因型在GCA患者和对照中的分布相似。比较有和无缺血性并发症的GCA患者时未发现显著关联。
我们的研究结果表明，eNOS基因的Glu/Asp(298)多态性与GCA易感性相关。
