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Prevalence of H1299R polymorphism in the Factor V gene among the Taif-Saudi Arabia population using polymerase chain
Nabil Saied Awad1, Adel El-Sayed El-Tarras
1College of Medicine, Biotechnology and Genetic Engineering Unit, Taif University, Taif, Saudi Arabia. nabilfaris151@yahoo.com
Insights
The His1299Arg polymorphism in Factor V gene, linked to thrombophilia, was studied in Saudi Arabia. The His1299Arg mutant was found in 8.5% of healthy individuals in western Saudi Arabia, indicating its presence in this population.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Health
- Population Studies
Background:
- Cardiovascular disease (CVD) is a global health concern.
- Single nucleotide polymorphisms (SNPs) are genetic risk factors for CVD.
- Factor V gene polymorphisms, like His1299Arg, are associated with hereditary thrombophilia and CVD risk.
Purpose of the Study:
- To determine the prevalence and allele frequency of the His1299Arg polymorphism (HR2 haplotype) in the Factor V gene.
- To investigate this genetic variant in healthy individuals from the Taif population in western Saudi Arabia.
Main Methods:
- Genotyping of the His1299Arg SNP using CVD StripAssay.
- Polymerase chain reaction-reverse hybridization technique.
- Study included 200 randomly selected healthy, unrelated individuals.
Main Results:
- The HR2 haplotype was present in 8.5% of the study population.
- Heterozygous (R1/R2) individuals: 7%; homozygous (R2/R2) individuals: 1.5%.
- The allelic frequency of the His1299Arg polymorphism was 0.05.
Conclusions:
- The His1299Arg mutant is present in the western Saudi Arabian population.
- This is the first report on HR2 haplotype and allele frequencies in a Saudi Arabian population.
- Further research is needed to assess prevalence across Saudi Arabia and its contribution to CVD etiology.
Abstract:
Cardiovascular disease (CVD) remains a major health hazard worldwide. Single nucleotide polymorphisms (SNPs) represent a part of risk factors that contributes to cardiovascular disease. SNP in the coagulation factor V genes have been shown to play a role in the development of cardiovascular disease. Coagulation Factor V is an enzyme cofactor of the coagulation system and contributes to a normal haemostatic balance. The His1299Arg polymorphism in the Factor V gene has been identified and linked to hereditary thrombophilia. The aim of the present study is to determine the prevalence of HR2 haplotype and allele frequency of His1299Arg polymorphism in the Factor V gene among randomly selected healthy individuals from Taif population which belonging to western region of Saudi Arabia. Genotyping of this SNP was carried out via CVD StripAssay, which based on a polymerase chain reaction-reverse hybridization technique. Two hundred healthy unrelated individuals were included in the study. Seventeen out of the studied population (8.5%) had the HR2 haplotype; 14 (7%) were heterozygous (R1/R2), and three (1.5%) were homozygous (R2/R2), with an allelic frequency of 0.05. This is the first report for a Saudi Arabian population that estimates the prevalence of HR2 haplotype and its allele frequencies. In conclusion, the His1299Arg mutant was noticeable within population of western Saudi Arabia. Further larger studies are needed to (1) estimate the prevalence of this mutant among individuals belonging to different KSA locations (2) assess the relative contribution of this mutational event separately and in combination with other thrombophilic polymorphisms in the etiology of cardiovascular disease in KSA.
