Mrad Meriem, Fekih-Mrissa Najiba, Wathek Cheima, Rannen Riadh, Gabsi Salem, Gritli Nasreddine
Faculté des Science de Tunis, Université Tunis el Manar, El Manar, Tunisie; Laboratoire de Biologie Moléculaire, Service d'Hématologie, Hôpital Militaire Principal d'Instruction de Tunis, Montfleury, Tunisie.
Laboratoire de Biologie Moléculaire, Service d'Hématologie, Hôpital Militaire Principal d'Instruction de Tunis, Montfleury, Tunisie; Académie Militaire Fondouk Jédid, Nabeul, Tunisie.
J Stroke Cerebrovasc Dis. 2014 Jul;23(6):1592-8. doi: 10.1016/j.jstrokecerebrovasdis.2013.12.048. Epub 2014 Mar 14.
Retinal vein occlusion (RVO) is the second most common cause of vision loss because of retinal vascular disease. There are 2 types of RVO: branch retinal vein occlusion (BRVO) and central retinal vein occlusion (CRVO). The pathogenesis of RVO is multifactorial. The role of factor V Leiden (FVL) and prothrombin mutations was examined in patients with CRVO and BRVO.
FVL and prothrombin were investigated by extracting DNA of 88 patients with RVO. Sixteen of the patients were diagnosed with CRVO, 4 with hemispheric retinal vein occlusion, and 68 with BRVO. The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism.
Significant differences were found in the frequencies of the genotypes for both the FVL (G1691A) (P<10(-3), odds ratio [OR]=17.4, confidence interval [CI]=6.20-59) and prothrombin (G20210A) (P=.007, OR=5.11, CI=1.30-29) polymorphisms between RVO patients and healthy controls. Additionally, the frequency of the GA genotype for the G1691A polymorphism was significantly higher among the patients in a subset of BRVO compared with controls (P<10(-3), OR=21.4, CI=7.34-74.2). However, no statistically significant differences were found in the frequencies of the prothrombin G20210A polymorphism between the BRVO group and healthy controls (P=.09, OR=3.13, CI=64-19.9). The frequency of both G1691A and G20210A genotypes among the patients of a CRVO subgroup was significantly higher compared with controls (P<10(-3), OR=11.4, CI=2.94-44.2; P=.007, OR=10.8, CI=2.15-54.1, respectively), suggesting an association between these polymorphisms and CRVO.
Large study would be required to understand completely the contribution of these markers in the risk of all types of RVO.
视网膜静脉阻塞（RVO）是视网膜血管疾病导致视力丧失的第二大常见原因。RVO有两种类型：视网膜分支静脉阻塞（BRVO）和视网膜中央静脉阻塞（CRVO）。RVO的发病机制是多因素的。研究了因子V莱顿（FVL）和凝血酶原突变在CRVO和BRVO患者中的作用。
通过提取88例RVO患者的DNA来研究FVL和凝血酶原。其中16例患者被诊断为CRVO，4例为半球视网膜静脉阻塞，68例为BRVO。采用聚合酶链反应-限制性片段长度多态性进行基因分型。
RVO患者与健康对照者在FVL（G1691A）（P<10⁻³，优势比[OR]=17.4，置信区间[CI]=6.20-59）和凝血酶原（G20210A）（P=0.007，OR=5.11，CI=1.30-29）多态性的基因型频率上存在显著差异。此外，与对照组相比，BRVO亚组患者中G1691A多态性的GA基因型频率显著更高（P<10⁻³，OR=21.4，CI=7.34-74.2）。然而，BRVO组与健康对照者之间凝血酶原G20210A多态性的频率没有统计学显著差异（P=0.09，OR=3.13，CI=0.64-19.9）。与对照组相比，CRVO亚组患者中G1691A和G20210A基因型的频率均显著更高（分别为P<10⁻³，OR=11.4，CI=2.94-44.2；P=0.007，OR=10.8，CI=2.15-54.1），表明这些多态性与CRVO之间存在关联。
需要进行大规模研究以全面了解这些标志物在所有类型RVO风险中的作用。
