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墨西哥梅斯蒂索患者中凝血酶激活的纤维蛋白溶解抑制剂多态性与脑静脉血栓形成

Thrombin-Activatable Fibrinolysis Inhibitor Polymorphisms and Cerebral Venous Thrombosis in Mexican Mestizo Patients.

作者信息

Arauz Antonio, Argüelles Nayelli, Jara Aurelio, Guerrero Jorge, Barboza Miguel A

机构信息

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.

出版信息

Clin Appl Thromb Hemost. 2018 Nov;24(8):1291-1296. doi: 10.1177/1076029618766267. Epub 2018 Apr 8.

Abstract

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.

摘要

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。

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