Krischek Boris, Akagawa Hiroyuki, Tajima Atsushi, Narita Akira, Kasuya Hidetoshi, Hori Tomokatsu, Inoue Ituro
Division of Genetic Diagnosis, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Cerebrovasc Dis. 2007;23(1):46-9. doi: 10.1159/000095758. Epub 2006 Sep 12.
Serine protease inhibitor member 3 of clade A (SERPINA3), also known as alpha-1-antichymotrypsin, inhibits the activity of cathepsin G. The release of neutrophil cathepsin G (proteolytic enzyme) can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders. In a previous report there was evidence that an alanine/threonine polymorphism was associated with the risk factor for aneurysmal subarachnoid hemorrhage (SAH) in a Polish population. We performed this study to determine whether this A15T polymorphism shows the same association in a Japanese population.
A total of 437 patients with an aneurysmal SAH and 405 control cases of Japanese origin were genotyped for the A15T polymorphism and 2 further intronic single nucleotide polymorphisms by using polymerase chain reaction and direct sequencing.
In the patients with intracranial aneurysms the SERPINA3 A15T allele and genotype distribution did not differ significantly from the controls.
In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.
A 族丝氨酸蛋白酶抑制剂成员 3(SERPINA3),也称为α-1-抗糜蛋白酶,可抑制组织蛋白酶 G 的活性。中性粒细胞组织蛋白酶 G(一种蛋白水解酶)的释放可通过降解、血小板聚集和凝血障碍破坏血管基质。在之前的一份报告中,有证据表明丙氨酸/苏氨酸多态性与波兰人群中动脉瘤性蛛网膜下腔出血(SAH)的危险因素相关。我们进行这项研究以确定这种 A15T 多态性在日本人群中是否显示出相同的关联。
通过聚合酶链反应和直接测序,对总共 437 例动脉瘤性 SAH 患者和 405 例日本裔对照病例进行 A15T 多态性以及另外两个内含子单核苷酸多态性的基因分型。
颅内动脉瘤患者中 SERPINA3 A15T 等位基因和基因型分布与对照组无显著差异。
在日本人群中,SERPINA3 基因的 A15T 多态性与动脉瘤性 SAH 无关。