Epidemiology of prothrombin G20210A polymorphism in the Southern Iran

There are many genetic and non-hereditary risk factors that are known to causes venous thromboembolic (VTE) disorders, Cardiovascular diseases and types of cancer. One of these is the Prothrombin G20210A mutation. Prothrombin mutation (guanine to adenine; G→A) at nucleotide position 20210, which is present in the 3′ untranslated region of the prothrombin gene. Prothrombin G20210A mutation is present outside the coding region for prothrombin, and hence it does not affect the actual structure of the prothrombin molecule and it does not affect its function as a strong clotting factor when activated into thrombin. However, several studies have shown that, G20210A heterozygosity was associated with a threefold increased risk for VTE. Moreover, the association of PTH G20210A polymorphisms with cancer has been reported. The present study was designed to determine the frequency of PTH G20210A polymorphism in Southern Iran.

In this cross-sectional study, 140 healthy women were from Southern Iran recruited among participants in Namazi Hospital, Shiraz, Iran, from March 2013 to February 2014. A total of 5 ml of peripheral blood was taken from individuals then Genomic DNA was extracted using blood DNA kit (Ron’s Blood and Cell DNA Mini Kit, BioRon, Germany). The amplification refractory mutation system- polymerase chain reaction (ARMS-PCR) method was used for the detection of PTH G20210A single nucleotide polymorphism in each subject.

The frequencies of the GG and GA genotypes were as 97.9%, 2.1% respectively. The frequency of G allele was and the frequency of A allele was 1.1%.

Results of the present study might be important in understanding the distribution of PTH G20210A polymorphism in the Southern Iran. Minor allele frequency in this population is higher than in the Iranian and European population but similar to the prevalence in the Western Iran, Iranian Jews, American, Irish, Tunisian and Bahraini population.