Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population.

Abstract

AIMS:

A recently identified polymorphism in factor V gene (His1299Arg; also named HR2) has been reported to be a possible risk factor for the development of venous thromboembolism (VTE), with a high prevalence of 9.5-15.2% in patients of different ethnic groups in different parts of the world. The aim of this study is to assess the prevalence of HR2 haplotype in Lebanon.

METHODS:

We randomly selected 125 samples from unrelated donors logged into our HLA registry; these represent healthy Lebanese individuals originating from different provinces and religious communities of the country. Their DNA was extracted using the Pel-Freez extraction kit and stored at -80 degrees C for later use. The CVD StripAssay was used for PCR and reverse hybridisation. It screens for several gene mutations including factor V H1299R.

RESULTS:

A total of 125 controls were studied: 72 males and 53 females with a median age 42 years. Thirteen (10.4%) had the HR2 haplotype; 11 (8.8%) were heterozygous (R1/R2), and two (1.6%) were homozygous (R2/R2), with an allelic frequency of 0.06.

CONCLUSIONS:

Our study is the first report from Lebanon that describes the prevalence of HR2 haplotype and the frequency of its alleles. We are reporting a high prevalence of the HR2 in our population (10.4%). The hypothesis that A4070G polymorphism might contribute to the expression of a thrombotic phenotype deserves to be tested in our population through larger studies.

• Authors: Ghazi S Zaatari, Zaher K Otrock, Amira S Sabbagh, Rami A R Mahfouz
• Journal: Pathology (Pathology) Vol. 38 Issue 5 Pg. 442-4 (Oct 2006) ISSN: 0031-3025 [Print] England
• PMID: 17008284 (Publication Type: Journal Article)

Chemical References

• Factor V

Topics

• Adolescent
• Adult
• Aged
• Factor V (genetics)
• Female
• Gene Frequency
• Genetic Carrier Screening
• Genetic Predisposition to Disease
• Heterozygote
• Humans
• Lebanon (epidemiology)
• Male
• Middle Aged
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Venous Thrombosis (epidemiology, genetics)