Guan Li-xue, Du Xin-ying, Wang Jing-xian, Wang Rui-li, Wu Zhen-lan, Jiang Hong
Department of Genetics, Weifang People's Hospital, Weifang, Shandong, 261041 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):173-5.
To investigate the relationship between a single nucleotide insertion/deletion(4G/5G) polymorphism located in the promoter region of the plasminogen activator inhibitor-1(PAI-1) gene and the pathogenesis of pregnancy-induced hypertension syndrome(PIHs).
The 4G/5G polymorphism of PAI-1 gene in 171 PIHs patients (PIHs group) and that in 193 normal pregnant women (control group) were detected by a combination of polymerase chain reaction-restriction fragment length polymorphism.
(1)The genotype frequencies of PAI-1 gene in PIHs group were 47.4% for 4G/4G, 41.5% for 4G/5G, and 11.1% for 5G/5G. The 4G/4G genotype and 4G allele frequencies of PAI-1 gene(47.4% and 0.681) for PIHs patients were higher than those (21.2% and 0.495) for normal controls respectively (P<0.001). (2)Both the 4G/4G genotype and the 4G allele of PAI-1 gene occurred more frequently in the severe PIHs group(61.3% and 0.758) than those (35.8% and 0.623) in the mild PIHs group respectively (P<0.001). However, there were no significant differences between those in mild group (35.8% and 0.623) and moderate group(42.8% and 0.625) respectively. (3) The 4G/4G genotype was significantly associated with PIHs (OR=3.34, 95%CI: 2.14-5.22).
These findings suggested that PAI-1 gene polymorphism may be a susceptible factor to the pathogenesis of PIHs and the 4G/4G genotype may be one of the major risk factors for PIHs in pregnant women.
探讨纤溶酶原激活物抑制剂-1（PAI-1）基因启动子区单核苷酸插入/缺失（4G/5G）多态性与妊娠高血压综合征（PIHs）发病机制之间的关系。
采用聚合酶链反应-限制性片段长度多态性联合检测法，检测171例PIHs患者（PIHs组）和193例正常孕妇（对照组）PAI-1基因的4G/5G多态性。
（1）PIHs组PAI-1基因的基因型频率为：4G/4G型占47.4%，4G/5G型占41.5%，5G/5G型占11.1%。PIHs患者PAI-1基因的4G/4G基因型频率（47.4%）和4G等位基因频率（0.681）分别高于正常对照组（21.2%和0.495）（P<0.001）。（2）PAI-1基因的4G/4G基因型和4G等位基因在重度PIHs组（61.3%和0.758）中出现的频率分别高于轻度PIHs组（35.8%和0.623）（P<0.001）。然而，轻度组（35.8%和0.623）与中度组（42.8%和0.625）之间无显著差异。（3）4G/4G基因型与PIHs显著相关（OR=3.34，95%CI：2.14-5.22）。
这些研究结果表明，PAI-1基因多态性可能是PIHs发病机制的一个易感因素，4G/4G基因型可能是孕妇PIHs的主要危险因素之一。
