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非动脉炎性前部缺血性视神经病变与位于糖蛋白Ibaα基因上的一种特定血小板多态性相关。

Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibalpha gene.

作者信息

Salomon Ophira, Rosenberg Nurit, Steinberg David M, Huna-Baron Ruth, Moisseiev Joseph, Dardik Rima, Goldan Oren, Kurtz Shimon, Ifrah Aviya, Seligsohn Uri

机构信息

Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Ophthalmology. 2004 Jan;111(1):184-8. doi: 10.1016/j.ophtha.2003.05.006.

Abstract

OBJECTIVE

To evaluate the association between platelet glycoprotein polymorphisms and the risks of single and second eye involvement with nonarteritic anterior ischemic optic neuropathy (NAION).

DESIGN

Case-control study.

PARTICIPANTS

Ninety-two consecutive patients with NAION, 26 of whom had second eye involvement, and 145 controls who attended the eye clinic for nonvascular entities.

METHODS

Polymerase chain reactions and restriction enzyme analyses were performed for genotyping 5 platelet glycoprotein polymorphisms on DNA extracted from whole blood.

MAIN OUTCOME MEASURES

Frequencies of the various platelet polymorphisms.

RESULTS

One of the 5 platelet glycoprotein polymorphisms analyzed, the B allele of the glycoprotein Ibalpha variable number of tandem repeats (VNTR), was a significant independent risk factor for NAION, with an odds ratio of 4.25 and a 95% confidence interval of 1.67 to 10.82 (P = 0.0026). All other platelet glycoprotein polymorphisms were similarly distributed in patients and controls. In addition, 9 of 16 patients who bore the VNTR B allele (56.3%) had second eye involvement, whereas among patients not harboring the VNTR B allele only 17 of 72 patients (23.6%) had second eye involvement (P = 0.009). Moreover, second eye involvement occurred earlier in patients who bore the specific polymorphism.

CONCLUSIONS

The presence of the VNTR B allele of glycoprotein Ibalpha confers a significant risk for NAION and predisposes affected patients to second eye involvement.

摘要

目的

评估血小板糖蛋白多态性与非动脉性前部缺血性视神经病变(NAION)单眼及双眼受累风险之间的关联。

设计

病例对照研究。

参与者

92例连续性NAION患者,其中26例双眼受累,以及145例因非血管性疾病就诊于眼科门诊的对照者。

方法

采用聚合酶链反应和限制性酶切分析对从全血中提取的DNA进行5种血小板糖蛋白多态性基因分型。

主要观察指标

各种血小板多态性的频率。

结果

所分析的5种血小板糖蛋白多态性之一,即糖蛋白Ibalpha可变串联重复序列(VNTR)的B等位基因,是NAION的一个显著独立危险因素,比值比为4.25,95%置信区间为1.67至10.82(P = 0.0026)。所有其他血小板糖蛋白多态性在患者和对照者中的分布相似。此外,携带VNTR B等位基因的16例患者中有9例(56.3%)双眼受累,而在未携带VNTR B等位基因的患者中,72例患者中仅有17例(23.6%)双眼受累(P = 0.009)。而且,携带特定多态性的患者双眼受累出现得更早。

结论

糖蛋白Ibalpha的VNTR B等位基因的存在赋予了NAION显著风险,并使受影响的患者易发生双眼受累。

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