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血栓调节蛋白激活的纤溶抑制因子基因+1040C/T 多态性与中国复发性自然流产队列妇女的关系。

Relationship Between Polymorphism of Thrombin-Activatable Fibrinolysis Inhibitor Gene +1040C/T and a Cohort of Chinese Women With Recurrent Spontaneous Abortion.

机构信息

Department of Medical Laboratory, Affiliated Huadu Hospital, Southern Medical University (People's Hospital of Huadu District), Guangzhou, Guangdong, People's Republic of China.

Department of Obstetrics and Gynecology, The Third Affiliated Hospital, Southern Medical University, Guangzhou, Guangdong, People's Republic of China.

出版信息

Clin Appl Thromb Hemost. 2021 Jan-Dec;27:10760296211029720. doi: 10.1177/10760296211029720.

Abstract

The balance between coagulation and fibrinolysis is essential for a successful pregnancy. This study aimed to explore the genetic variant of +1040C/T in the coding region of thrombin-activatable fibrinolysis inhibitor (TAFI) gene in women with recurrent spontaneous abortion (RSA) and in unrelated healthy controls and to investigate the possible association between TAFI +1040C/T polymorphism and RSA. Peripheral blood samples were collected from 137 Chinese patients with RSA and 103 unrelated healthy Chinese controls. The TAFI +1040C/T polymorphism was analyzed using SNaPshot SNP typing after DNA extraction. The frequency of the C allele was lower in RSA patients compared with the controls (0.78 vs 0.84). A subanalysis of the TAFI +1040C/T polymorphism in the 2 populations of RSA women (groups 2RSA and >2RSA) showed that the +1040CT genotype was significantly higher and the +1040CC genotype was significantly lower than from that found in controls. The allele +1040C was associated with a reduced risk of RSA in both group 2RSA (OR = 0.418, 95%CI, 0.255-0.685) and group >2RSA (OR = 0.473, 95%CI, 0.274-0.819) compared with controls. Our data indicate a protective role for TAFI +1040C allele against RSA, and may be associated with the genetic susceptibility of RSA.

摘要

凝血和纤溶之间的平衡对于成功妊娠至关重要。本研究旨在探讨复发性自然流产(RSA)妇女和无关健康对照者血栓调节蛋白激活的纤溶抑制物(TAFI)基因编码区+1040C/T 基因变异,并探讨 TAFI+1040C/T 多态性与 RSA 之间的可能关联。从 137 例中国 RSA 患者和 103 例无关健康中国对照者中采集外周血样本。提取 DNA 后,采用 SNaPshot SNP 分型法分析 TAFI+1040C/T 多态性。与对照组相比,RSA 患者的 C 等位基因频率较低(0.78 对 0.84)。对 RSA 妇女 2 个亚组(2RSA 和>2RSA)的 TAFI+1040C/T 多态性进行亚分析显示,+1040CT 基因型显著高于对照组,+1040CC 基因型显著低于对照组。等位基因+1040C 与 2RSA(OR=0.418,95%CI,0.255-0.685)和>2RSA(OR=0.473,95%CI,0.274-0.819)相比, RSA 的风险降低。我们的数据表明 TAFI+1040C 等位基因对 RSA 具有保护作用,可能与 RSA 的遗传易感性有关。

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