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Large-scale screening for factor V Leiden (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in Greek
Alkistis Raptopoulou1, Vassiliki Michou2, Niki Mourtzi3
1Department of Biomedical Science University of West Attica Aigaleo Greece.
Insights
This study estimated the prevalence of factor V Leiden (FVL), prothrombin, and MTHFR gene mutations in healthy Greek adults. Frequencies were determined, revealing higher FVL and MTHFR allele frequencies than previously reported.
Area of Science:
- Genetics and Population Studies
- Molecular Biology
- Thrombophilia Research
Background:
- Factor V Leiden (FVL), prothrombin (G20210A), and MTHFR (C677T) mutations are associated with thrombotic risk.
- Understanding their prevalence in diverse populations is crucial for risk assessment.
Purpose of the Study:
- To determine the allele frequencies of FVL (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in the Greek population.
- To investigate the co-occurrence of these common thrombophilia mutations.
Main Methods:
- Real-time PCR was used to genotype 974 apparently healthy Greek adults.
- Allele frequencies and combinations of mutations were calculated.
Main Results:
- Allele frequencies for FVL, prothrombin, and MTHFR were 4%, 2.25%, and 39.5%, respectively.
- Coexistence of two mutations was observed in 0.9% (FVL/prothrombin), 3.5% (FVL/MTHFR), and 3% (prothrombin/MTHFR) of samples.
- No triple heterozygous carriers were found.
Conclusions:
- The allele frequencies of FVL and MTHFR mutations in the Greek population are higher than previously published data.
- The findings suggest a potential biological affinity between the Greek and Southern Italian populations regarding these genetic mutations.
Background And Aims:
To provide a fair estimate of the prevalence of factor V Leiden (FVL) (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in the Greek population.
Methods:
We genotyped a representative sample of 974 apparently healthy Greek adults by the method of real-time PCR and we calculated the allele frequencies of factor V Leiden (FVL) (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations. In addition, we determined the frequency of co-occurrence of FVL (1691A) and prothrombin (20210A), FVL (1691A) and MTHFR (677T), prothrombin (20210A) and MTHFR (677T) mutations.
Results:
Τhe career frequencies of FVL (1691A), prothrombin (20210A), and MTHFR (677T) alleles were 7.5%, 4.5%, and 49.3% while the allele frequencies were 4%, 2.25%, and 39.5%, respectively. The coexistence of the allele frequencies combinations of two, FVL (1691A) and Prothrombin (20210A), FVL (1691A) and MTHFR (677T), prothrombin (20210A) and MTHFR (677T) was found in 1 (0.9%), 29 (3.5%), and 22 (3%) samples, respectively. Triple heterozygous carriers were not found.
Conclusion:
Allele frequencies of the two (FVL and MTHFR) mutations are higher compared with published data. The large sample size of our study enhances the validity of our results and suggests a biological affinity of Greek population with Southern Italian populations.
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