Open AccessLarge‐scale screening for factor V Leiden ( G1691A ), prothrombin ( G20210A ), and MTHFR ( C677T ) mutations in Greek population
Author(s) -
Raptopoulou Alkistis,
Michou Vassiliki,
Mourtzi Niki,
Papageorgiou Efstathia G.,
Voyiatzaki Chrysa,
Tsilivakos Vassilis,
Beloukas Apostolos,
Bei Thaleia A.
Publication year - 2022
Publication title -
health science reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.462
H-Index - 7
ISSN - 2398-8835
DOI - 10.1002/hsr2.457
Subject(s) - methylenetetrahydrofolate reductase , prothrombin g20210a , factor v leiden , population , allele , medicine , gastroenterology , biology , genetics , thrombosis , venous thrombosis , environmental health , gene
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.