Department of Cardiology, Medical Centre of Postgraduate Education, Grochowski Hospital, Grenadierow 51/59, 04-073, Warsaw, Poland.
Department of Human Epigenetics, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106, Warsaw, Poland.
J Thromb Thrombolysis. 2019 Oct;48(3):519-527. doi: 10.1007/s11239-019-01856-3.
The aim of the study was to investigate the possible role of coagulation factor XIII (FXIII) plasma activity and its gene (F13A1) Val34Leu variant as well as thrombospondin-2 gene (THBS2) T/G 3'UTR and thrombospondin-4 gene (THBS4) Ala387Pro variants in the development of myocardial infarction (MI) in young patients. The studied group consisted of 158 patients aged < 50 years with MI, and the control groups consisted of 150 healthy people aged < 50 years and 202 patients suffering from MI aged ≥ 50 years. Factor XIII activity was measured by photometric assay; genetic variants were determined using the restriction fragment length polymorphism (RFLP) method. FXIII activity was significantly higher in the young MI group compared with young healthy controls and the MI ≥ 50 group (126.2 U/dl vs. 109.6 U/dl, p < 0.0001; 126.2 U/dl vs. 119.8 U/dl, p = 0.01, respectively). FXIII activity did not correlate with F13A1 gene variants. F13A1, THBS2 and THBS4 genotypes were equally distributed in all studied groups. There was also no statistically significant differences in the prevalence of the extended CC/TT/GG haplotype of F13A1/THBS2/THBS4 variants between the young MI group and the young healthy control group and between the young MI group and the MI aged ≥ 50 group. In conclusion, our study revealed that increased FXIII activity is associated with an increased risk of MI in young patients. None of studied single genetic variants-F13A1 Val34Leu, THBS2 T/G 3'UTR and THBS4 Ala387Pro-and the extended CC/TT/GG haplotype of F13A1/THBS2/THBS4 genes was associated with MI in young age.
本研究旨在探讨凝血因子 XIII（FXIII）血浆活性及其基因（F13A1）Val34Leu 变体，以及血小板反应蛋白-2 基因（THBS2）T/G 3'UTR 和血小板反应蛋白-4 基因（THBS4）Ala387Pro 变体在年轻患者心肌梗死（MI）发展中的可能作用。研究组包括 158 名年龄<50 岁的 MI 患者，对照组包括 150 名年龄<50 岁的健康人，以及 202 名年龄≥50 岁的 MI 患者。通过比色法测定 FXIII 活性；通过限制性片段长度多态性（RFLP）法确定遗传变异。与年轻健康对照组和年龄≥50 岁 MI 组相比，年轻 MI 组的 FXIII 活性显著升高（126.2 U/dl 比 109.6 U/dl，p<0.0001；126.2 U/dl 比 119.8 U/dl，p=0.01）。FXIII 活性与 F13A1 基因变异无关。在所有研究组中，F13A1、THBS2 和 THBS4 基因型的分布均无统计学差异。年轻 MI 组与年轻健康对照组之间以及年轻 MI 组与年龄≥50 岁 MI 组之间，F13A1/THBS2/THBS4 变异的扩展 CC/TT/GG 单倍型的流行率也无统计学差异。总之，我们的研究表明，增加的 FXIII 活性与年轻患者发生 MI 的风险增加有关。在年轻患者中，研究的单个遗传变异-F13A1 Val34Leu、THBS2 T/G 3'UTR 和 THBS4 Ala387Pro-以及 F13A1/THBS2/THBS4 基因的扩展 CC/TT/GG 单倍型均与 MI 无关。
