Chang Wei-An, Sheu Chau-Chyun, Liu Kuan-Ting, Shen Jheng-Heng, Yen Meng-Chi, Kuo Po-Lin
Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan, R.O.C.
Division of Pulmonary and Critical Care Medicine, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan, R.O.C.
Exp Ther Med. 2018 Nov;16(5):4172-4180. doi: 10.3892/etm.2018.6693. Epub 2018 Sep 4.
Various risk factors, including high age, female gender, obesity and certain genetic defects have been linked to venous thrombosis. A Taiwanese family with venous thrombosis of unknown cause were enrolled in the present study. In this pedigree, two women without any specific underlying diseases suffered from venous thrombotic events at the same age. No specific risk factors or coagulation abnormalities were identified. The main proband's younger brother also had intestinal arterial thrombosis at 54 years of age. Therefore, it was hypothesized that familial genetic defects may be the cause of venous thrombosis within this family. Blood samples collected from certain members of this pedigree were subjected to whole-exome sequencing, and three genetic variants were identified, including a missense variant of solute carrier family 4 member 1 (SLC4A1) (c.388G>A), a deletion on glycoprotein Ib platelet α subunit (GP1BA) (c.1322_1344del23) and an insertion in the splice site of homeostatic iron regulator (HFE). To date, none of these three genetic variants have been reported to be associated with venous thrombosis, to the best of our knowledge. The present study suggests that these genetic variants of SLC4A1, GP1BA and HFE may be associated with venous thrombosis in an Asian pedigree.
包括高龄、女性、肥胖和某些基因缺陷在内的多种风险因素已被证实与静脉血栓形成有关。本研究纳入了一个患有不明原因静脉血栓的台湾家庭。在这个家系中，两名无任何特定基础疾病的女性在相同年龄发生了静脉血栓事件。未发现特定的风险因素或凝血异常。主要先证者的弟弟在54岁时也发生了肠道动脉血栓形成。因此，推测家族性基因缺陷可能是这个家庭中静脉血栓形成的原因。对该家系部分成员采集的血样进行了全外显子组测序，鉴定出三个基因变异，包括溶质载体家族4成员1（SLC4A1）的一个错义变异（c.388G>A）、糖蛋白Ib血小板α亚基（GP1BA）的一个缺失（c.1322_1344del23）和稳态铁调节因子（HFE）剪接位点的一个插入。据我们所知，迄今为止尚未报道这三个基因变异中的任何一个与静脉血栓形成有关。本研究表明，SLC4A1、GP1BA和HFE的这些基因变异可能与一个亚洲家系中的静脉血栓形成有关。
