Salvarani Carlo, Casali Bruno, Farnetti Enrico, Pipitone Nicolò, Formisano Debora, Nicoli Davide, Macchioni PierLuigi, Cimino Luca, Bajocchi GianLuigi, Grazia Catanoso Maria, Restuccia Giovanna, Ghinoi Alessandra, Boiardi Luigi
Arcispedale S. Maria Nuova, Reggio Emilia, Italy.
Arthritis Rheum. 2007 Oct;56(10):3502-8. doi: 10.1002/art.22922.
To investigate potential associations of the PlA1/A2 polymorphism of the platelet glycoprotein IIIa (GPIIIa) gene with susceptibility to, and clinical expression of, giant cell arteritis (GCA).
One hundred forty patients with biopsy-proven GCA who were residents of Reggio Emilia, Italy, and 241 population-based healthy controls from the same geographic area were genotyped for the PlA1/A2 polymorphism of the platelet GPIIIa gene by molecular methods. The patients were divided into subgroups according to the presence or absence of polymyalgia rheumatica and cranial ischemic complications. The distribution of the PlA1/A2 genotype was investigated, and odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated.
The distribution of the PlA1/A2 genotype differed significantly between GCA patients with and those without visual loss caused by anterior ischemic optic neuritis (P = 0.016, corrected P [P(corr)] = 0.048). The PlA2 allele was found significantly more frequently in GCA patients with anterior ischemic optic neuritis than in those without anterior ischemic optic neuritis (P = 0.023, P(corr) = 0.046, OR 2.4 [95% CI 1.2-4.8]). Homozygosity for the PlA2 allele was significantly more frequent among GCA patients with anterior ischemic optic neuritis than among those without (P = 0.019, P(corr) = 0.038, OR 7.1 [95% CI 1.64-30.6]). Cranial ischemic complications occurred in 8 of 19 patients (42.1%) receiving antiplatelet therapy, compared with 22 of 118 patients (18.6%) not receiving such therapy (P = 0.03, OR 3.2 [95% CI 1.1-8.8]).
Our findings show that A2/A2 homozygosity is associated with an increased risk of visual loss due to anterior ischemic optic neuritis in GCA patients. Antiplatelet therapy, however, was not effective in reducing the risk of ischemic events in this population of GCA patients.
研究血小板糖蛋白IIIa(GPIIIa)基因的PlA1/A2多态性与巨细胞动脉炎(GCA)易感性及临床表型之间的潜在关联。
采用分子方法对意大利雷焦艾米利亚地区140例经活检证实为GCA的患者以及来自同一地理区域的241名基于人群的健康对照者进行血小板GPIIIa基因PlA1/A2多态性基因分型。根据是否存在风湿性多肌痛和头颅缺血性并发症将患者分为亚组。研究PlA1/A2基因型的分布情况,并计算比值比(OR)和95%置信区间(95%CI)。
因前部缺血性视神经病变导致视力丧失的GCA患者与未出现该情况的GCA患者之间,PlA1/A2基因型分布存在显著差异(P = 0.016,校正P值[P(corr)] = 0.048)。与未发生前部缺血性视神经病变的GCA患者相比,发生前部缺血性视神经病变的GCA患者中PlA2等位基因的出现频率显著更高(P = 0.023,P(corr) = 0.046,OR 2.4 [95%CI 1.2 - 4.8])。在发生前部缺血性视神经病变的GCA患者中,PlA2等位基因纯合子的频率显著高于未发生该病变的患者(P = 0.019,P(corr) = 0.038,OR 7.1 [95%CI 1.64 - 30.6])。19例接受抗血小板治疗的患者中有8例(42.1%)发生头颅缺血性并发症,而118例未接受该治疗的患者中有22例(18.6%)发生此类并发症(P = 0.03,OR 3.2 [95%CI 1.1 - 8.8])。
我们的研究结果表明,A2/A2纯合子与GCA患者因前部缺血性视神经病变导致视力丧失的风险增加相关。然而,抗血小板治疗在降低该GCA患者群体缺血事件风险方面无效。