Al-Zoubi Nabil, Alrabadi Nasr, Kheirallah Khalid, Alqudah Ahmad
Department of General Surgery/Vascular Surgery, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Department of Pharmacology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Int J Gen Med. 2021 Sep 7;14:5323-5332. doi: 10.2147/IJGM.S324340. eCollection 2021.
, , , and are the most common genes associated with thrombophilia genetic variants, which vary among different populations and ethnic groups. Little is known about the prevalence and multiplicity of these variants in Jordan. The aim of this study was to estimate the prevalence and multiplicity of the G1691A, H1299R, 1298A>C, 677C>T, 20210G>A, and 675 4G/5G variants among healthy Jordanians.
This cross-sectional study was conducted on randomly selected healthy Jordanian participants. Non-Jordanians and those with a history of arterial/venous thrombosis, atherosclerosis, or a history of recurrent abortions were excluded from the study. PCR was used to detect variants in DNA extracted from participants' blood samples.
A total of 300 subjects were screened: 170 (56.7%) females with an average age of 27.78±9.32 years and 130 (43.3%) males with an average age of 29.88±8.55 years. Genetic variants (at least one) were found in 75% of the subjects (81.2% among females and 66.9% among men), while 64.7%, 52%, and 12% were found to have at least two, three, and four variants, respectively. Overall, 21%, 29%, 54.3%, 27.3%, 7.7%, and 66% of participants were found to have G1691A, H1299R, 1298A>C, 677C>T, 20210G>A, and 675 4G/5G gene variants, respectively.
Three-quarters of our population had at least one of the thrombophilia genetic variants, and most had more than one variant. The most common variants detected were associated with , followed by , , and then . We observed that females had higher prevalence estimates than males. However, multiplicity among males was significantly higher than females. Our findings indicated noticeable differences in prevalence estimates compared with other populations.
凝血因子Ⅴ基因(FⅤ)、凝血酶原基因(FⅡ)、亚甲基四氢叶酸还原酶基因(MTHFR)、蛋白C基因(PC)和蛋白S基因(PS)是与血栓形成倾向遗传变异相关的最常见基因,这些基因在不同人群和种族中存在差异。关于这些变异在约旦的患病率和多重性知之甚少。本研究的目的是估计健康约旦人中FⅤ基因G1691A、FⅡ基因H1299R、MTHFR基因1298A>C、MTHFR基因677C>T、凝血酶原基因20210G>A和PS基因675 4G/5G变异的患病率和多重性。
本横断面研究对随机选取的健康约旦参与者进行。非约旦人和有动脉/静脉血栓形成、动脉粥样硬化病史或反复流产史的人被排除在研究之外。采用聚合酶链反应(PCR)检测从参与者血样中提取的DNA中的变异。
共筛查了300名受试者:170名(56.7%)女性,平均年龄27.78±9.32岁;130名(43.3%)男性,平均年龄29.88±8.55岁。75%的受试者(女性中为81.2%,男性中为66.9%)发现有遗传变异(至少一种),而分别有64.7%、52%和12%的受试者被发现至少有两种、三种和四种变异。总体而言,分别有21%、29%、54.3%、27.3%、7.7%和66%的参与者被发现有FⅤ基因G1691A、FⅡ基因H1299R、MTHFR基因1298A>C、MTHFR基因677C>T、凝血酶原基因20210G>A和PS基因675 4G/5G基因变异。
我们研究人群中有四分之三至少有一种血栓形成倾向遗传变异,且大多数人有不止一种变异。检测到的最常见变异与FⅤ相关,其次是FⅡ、MTHFR和PS。我们观察到女性的患病率估计高于男性。然而男性的多重性显著高于女性。我们的研究结果表明,与其他人群相比,患病率估计存在显著差异。