Factor XIII Val34Leu polymorphism and the risk of myocardial infarction under the age of 36 years

Rallidis, Lοukianos S.; Politou, Marianna; Komporozos, Christoforos; Panagiotakos, Demosthenes B.; Belessi, Chrisoula I.; Travlou, Αnthi; Lekakis, John; Kremastinos, Dimitrios Th.

doi:10.1160/th07-12-0755

Cited by 26 publications

(2 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The frequency of single nucleotide point mutations leading to the presence of Leu in the amino acid chain was significantly lower in the group of 130 patients with MI aged < 60 compared with the healthy control group of individuals of the same age [18]. Similarly, the Greek study indicated that the F13A1 Val34Leu variant (T allele) had a protective effect against the development of premature MI in a very young population aged < 36 years [19].…”

Section: Discussionmentioning

confidence: 99%

Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients

Ambroziak

Kuryłowicz

Budaj

2019

J Thromb Thrombolysis

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients

Ambroziak

Kuryłowicz

Budaj

2019

J Thromb Thrombolysis

View full text Add to dashboard Cite

show abstract

“…Polymorphisms of the FXIII gene lead to changes in clot properties25 that seem to be clinically relevant; while intracranial hemorrhage seems more prevalent in patients with the FXIII Val34Leu polymorphism,26 less myocardial infarctions seem to occur 27,28. This exemplifies that FXIII is apparently situated at the interface between the maintenance of clot integrity and clot breakdown 29…”

Section: Introductionmentioning

confidence: 99%

Catridecacog: a breakthrough in the treatment of congenital factor XIII A-subunit deficiency?

Korte¹

2014

JBM

View full text Add to dashboard Cite

Circulating factor XIII (FXIII) consists of two active (A) and two carrier (B) subunits in tetrameric form. Congenital FXIII deficiency is a rare autosomal-recessive trait that mostly results from an FXIII A-subunit deficiency. Classic coagulation assays, such as prothrombin time or activated partial thromboplastin time, are not sensitive to FXIII; therefore, specific FXIII assays are necessary to detect the deficiency. The clinical picture of congenital FXIII deficiency comprises abortions, umbilical cord bleeding, increased surgical bleeding, intracerebral hemorrhage (which can, unfortunately, be the very first sign of severe FXIII deficiency), menorrhagia, and wound-healing disorders. Given the risk of intracranial hemorrhage, continued prophylaxis is to be recommended in severe deficiency, even in the actual absence of bleeding symptoms. Functional FXIII half-life decreases in consumptive processes (eg, surgery), explaining why increased dosing is needed in such situations. A recombinant FXIII (rFXIII) subunit-A molecule, which is expressed in Saccharomyces cerevisiae, has been evaluated for replacement therapy in congenital FXIII deficiency. The bleeding frequency under continued rFXIII prophylaxis during a year-long treatment period was significantly lower compared to on-demand treatment. Importantly, no severe spontaneous bleedings occurred, and bleeding requiring additional intervention only occurred after relevant trauma. Treatment with rFXIII proved to be safe: antibodies against rFXIII detected in four patients were not considered clinically relevant. No allergic reactions were observed. These data show that rFXIII can be used safely and effectively for continued prophylaxis in congenital FXIII deficiency; it is conceivable that this also holds true for treatment of acute bleeding, but clinical proof of this is pending.

show abstract

Novel Insights into Genetics of Arterial Thrombosis

Konings¹,

Govers‐Riemslag²,

Cate

2010

Clinical Cardiogenetics

View full text Add to dashboard Cite

Factor XIII Val34Leu polymorphism and the risk of myocardial infarction under the age of 36 years

Cited by 26 publications

References 20 publications

Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients

Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients

Catridecacog: a breakthrough in the treatment of congenital factor XIII A-subunit deficiency?

Novel Insights into Genetics of Arterial Thrombosis

Contact Info

Product

Resources

About