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Hormozgan University of Medical Sciences

The association of Factor XIII 100 G/T polymorphism and the risk of deep venous thromboembolism: An in silico and experimental study

(2016) The association of Factor XIII 100 G/T polymorphism and the risk of deep venous thromboembolism: An in silico and experimental study. Molecular Medicine Journal.

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Abstract

Introduction: Several lines of evidence suggest that the Factor XIII (FXIII) 100 G/T polymorphism may influence susceptibility to deep venous thromboembolism (DVT). To explore this hypothesis, we investigated whether this polymorphism is associated with the predisposition to DVT. We also predict the possible impact of residue substitution at codons 34 (Val34Leu) in A subunits of the FXIII coagulation factor on the structure and function of it. Methods: A total of 693 individuals were included in the current study, 193 patients with DVT clinical symptoms, and 500 healthy subjects without both personal and family histories of thromboembolic disorders. Genotyping was carried out using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. To predict the potentially effects of residue changes at codons 34 on the structure and function of the FXIII, we used Polymorphism Phenotyping (PolyPhen) online software. Results: No significant difference in the genotypes distribution of the FXIII 100 G/T gene polymorphism was detected between DVT patients and healthy controls (P>0.05). Our results showed that the frequency of the mutated FXIII 100T allele was not statistically significant different between two group. Using PolyPhen online software, residue substitution at codons 34 of the FXIII was predicted to be benign. Conclusion: Our in silico and experimental findings indicated that the FXIII 100 G/T gene polymorphism is not associated with DVT

Item Type: Article
Keywords: Deep Venous Thromboembolism, FXIII 100 G/T Polymorphism, Thrombophilia, PolyPhen
Subjects: genetic
Divisions: Research Vice-Chancellor Department > Molecular Medicine Journal
Depositing User: Molecular Medicine Journal
URI: http://eprints.hums.ac.ir/id/eprint/971

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