Frequencies of the new thrombophilic mutations of antithrombin (SERPINC1) (IVS +141G>A), glycoprotein GPVI (Ser219Pro) and cytochrome CYP4V2 (Lys259Gln) in healthy middle-aged people in Central Bohemia

Česká verzia

Authors: J. Kvasnička ¹; J. Hájková ¹; P. Bobčíková ¹; T. Kvasnička ¹; D. Dušková ²; Š. Poletínová ²; V. Kieferová ²
Authors place of work: Trombotické centrum a Centrální hematologické laboratoře, přednosta prof. MUDr. Jan Kvasnička, DrSc., Ústavu klinické biochemie a laboratorní diagnostiky 1. lékařské fakulty UK a VFN v Praze, přednosta prof. MUDr. Tomáš Zima, DrSc., MBA ¹; Fakultní transfuzní oddělení VFN v Praze, přednostka prim. MUDr. Daniela Dušková ²
Published in the journal: Vnitř Lék 2012; 58(7 a 8): 146-151
Category: 60th Birthday prof. MUDr. Miroslav Penka, CSc.

Summary

Objective:
The aim of study was to determine frequencies of alleles and genotypes of new thrombophilia polymorhisms associated according to GWAS studies with venous thrombosis in Caucasian healthy people in Central Bohemia.

Methods:
Genotyping of thrombophilic mutations SERPINC1 IVS +141G>A, GP6 13254T>C and CYP4V2 (Lys259Gln) was performed in 1,527 healthy subjects using a robotic DNA isolation and subsequent PCR amplification with melting curve analysis (LightCycler480 System, Roche).

Results:
For the reference group was the frequency of risk allele A of SERPINC1 (IVS +141G>A) polymorphism 11.3% and frequencies of genotypes were GG 78.36%, GA 20.66% and AA 0.98%. Frequency of risk allele T of GP6 13254T>C polymorphism was 87.7% and frequencies of genotypes were TT 77.14%, TC 21.15% and CC 1.70%. Frequency of risk allele A of CYP4V2 polymorphism (Lys259Gln) was 65.2% and frequencies of genotypes were CC 12.25%, CA 45.12% and AA 42.63%. Those frequencies were not differ for both genders.

Conclusion:
The results confirm relatively high prevalence of other hereditary thrombophilia polymorphisms in Central Bohemia. But their clinical significance is not fully known yet.

Key words:
SERPINC1 (IVS +141G>A) – GP6 (13254T>C) – CYP4V2 (Lys259Gln) – prevalence – Central Bohemia

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