Arauz Antonio, Argüelles Nayelli, Jara Aurelio, Guerrero Jorge, Barboza Miguel A
1 Stroke Clinic, Instituto Nacional de Neurología y Neurocirugía, Manuel Velasco Suárez, México City, Mexico.
2 Genetics Department, Instituto Nacional de Neurología y Neurocirugía, Manuel Velasco Suárez, México City, Mexico.
Clin Appl Thromb Hemost. 2018 Nov;24(8):1291-1296. doi: 10.1177/1076029618766267. Epub 2018 Apr 8.
Thrombin-activatable fibrinolysis inhibitor (TAFI) gene polymorphisms have been proposed as a predisposing factor for cerebral venous thrombosis (CVT). We analyzed the association between CVT and TAFI single-nucleotide polymorphisms (rs3742264, rs2146881, and rs1926447) compared to healthy controls. Mexico Mestizo confirmed cases with CVT and age- and sex-matched controls with no history of venous thrombotic events were recruited from July 2006 to July 2015. Demographic, clinical, and imaging information was included in the analysis. Genotyping single-nucleotide polymorphisms were performed by allele-specific polymerase chain reaction. Allelic univariate analysis, haplotype association, and Hardy-Weinberg equilibrium were assessed. A total of 113 CVT cases (94 females [83.2%]; median age 35 years [interquartile range 27-43 years]) and 134 age- and sex-matched controls were included. The main risk factors for CVT were pregnancy/puerperium (30.9%), oral contraceptive use (19.5%), and hereditary thrombophilia (7.1%). We found no significant association for heterozygous and homozygous models for rs3742264 ( P = .30 and P = .69, respectively), rs2146881 ( P = .90 and P = .17, respectively), or rs1926447 ( P = .40 and P = .52, respectively) compared to controls; these findings were consistent in subgroup and haplotype analyses. In conclusion, TAFI rs3742264, rs2146881, and rs1926447 polymorphisms do not increase the risk of CVT in comparison to healthy controls.
凝血酶激活的纤维蛋白溶解抑制剂(TAFI)基因多态性被认为是脑静脉血栓形成(CVT)的一个易感因素。我们分析了CVT与TAFI单核苷酸多态性(rs3742264、rs2146881和rs1926447)之间的关联,并与健康对照进行比较。2006年7月至2015年7月招募了墨西哥梅斯蒂索族确诊的CVT病例以及年龄和性别匹配且无静脉血栓形成事件病史的对照。分析纳入了人口统计学、临床和影像学信息。通过等位基因特异性聚合酶链反应进行单核苷酸多态性基因分型。评估了等位基因单变量分析、单倍型关联和哈迪-温伯格平衡。共纳入113例CVT病例(94例女性[83.2%];中位年龄35岁[四分位间距27 - 43岁])和134例年龄和性别匹配的对照。CVT的主要危险因素为妊娠/产褥期(30.9%)、口服避孕药使用(19.5%)和遗传性血栓形成倾向(7.1%)。与对照相比,我们发现rs3742264(分别为P = 0.30和P = 0.69)、rs2146881(分别为P = 0.90和P = 0.17)或rs1926447(分别为P = 0.40和P = 0.52)的杂合子和纯合子模型均无显著关联;这些发现在亚组分析和单倍型分析中是一致的。总之,与健康对照相比,TAFI的rs3742264、rs2146881和rs1926447多态性不会增加CVT的风险。