Prevalence of Three Common Polymorphisms in the A-subunit Gene of Factor XIII in Patients with Coronary Artery Disease

Prevalence of Three Common Polymorphisms in the A-subunit Gene of Factor XIII in Patients with Coronary Artery Disease
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冠状动脉疾病患者中因子 XIII A 亚基基因三种常见多态性的患病率

DOI:
10.1055/s-0037-1614515
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发表时间:
1999
影响因子:
6.7
通讯作者:
Peter J. Grant
Peter J. Grant
中科院分区:
医学2区
文献类型:
--
作者:
Hans P. Kohler;T. Futers;Peter J. Grant

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总结活化凝血因子XIII通过α-和γ-纤维蛋白链的共价交联在凝血级联的最后阶段发挥重要作用。我们最近发现,在外显子2的功能多态性,密码子34的FXIII A-亚基基因是保护心肌梗死。为了研究A亚单位基因中其他三种常见点突变(密码子564,C至T,650 G至A和651 G至C)的患病率及其与FXIII活性和抗原水平的相关性,对275例冠状动脉疾病患者和196例对照进行了研究。在患者和对照组之间,或在有或无MI的患者之间,多态性的患病率没有差异。只有密码子564处的基因型与FXIII活性相关,在具有T等位基因的受试者中具有较低的活性。第34位密码子和第564位密码子之间存在连锁不平衡。这些结果表明,FXIIIVal 34 Leu是唯一常见的多态性的编码区的A亚基基因的FXIII与冠状动脉疾病。
Summary Activated blood coagulation factor XIII has an important role in the final stage of the clotting cascade by the covalent crosslinking of α- and γ-fibrin chains. We have recently shown that a functional polymorphism in exon 2, codon 34 of the FXIII A-subunit gene is protective against myocardial infarction. To investigate the prevalence of three other common point mutations in the A-subunit gene (codon 564, C to T, 650 G to A and 651 G to C) and their association with FXIII activity and antigen levels, 275 patients with coronary artery disease and 196 controls were studied. There was no difference in the prevalence of the polymorphisms between patients and controls or between patients with or without MI. Only genotype at codon 564 was associated with FXIII activity with lower activities in subjects possessing the T allele. There was evidence of linkage disequilibrium between codon 34 and codon 564. These results suggest that FXIIIVal34Leu is the only common polymorphism in the coding region of the A-subunit gene of FXIII associated with coronary artery disease.
人类因子XIII:纤维蛋白稳定因子。
DOI: --
发表时间: 1980
期刊: Progress in hemostasis and thrombosis
影响因子: --
作者:
Lorand,L;Losowsky,MS;Miloszewski,KJ
通讯作者: Miloszewski,KJ
DOI: 10.1073/pnas.91.15.7296
发表时间: 1994-07-19
影响因子: 11.1
作者:
YEE, VC;PEDERSEN, LC;TELLER, DC
通讯作者: TELLER, DC