Prevalence and Multiplicity of Thrombophilia Genetic Polymorphisms of FV, MTHFR, FII, and PAI-I: A Cross-Sectional Study on a Healthy Jordanian Population

Nabil Al-Zoubi,1 Nasr Alrabadi,2 Khalid Kheirallah,3 Ahmad Alqudah4 1Department of General Surgery/Vascular Surgery, Jordan University of Science and Technology, Irbid, 22110, Jordan; 2Department of Pharmacology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan; 3Department of Public Health and Community Medicine, Jordan University of Science and Technology, Irbid, Jordan; 4Department of Laboratories/Jordan University of Science and Technology, Irbid, 22110, JordanCorrespondence: Nabil Al-ZoubiAssociate Professor of Vascular Surgery and Endovascular Therapy, Department of Surgery, Faculty of Medicine, Jordan University of Science and Technology, PO Box 3030, Irbid 22110, JordanTel + 962 79-5577-4637Email nazoubi@just.edu.joBackground: FV, MTHFR, II, and PAI-I are the most common genes associated with thrombophilia genetic variants, which vary among different populations and ethnic groups. Little is known about the prevalence and multiplicity of these variants in Jordan. The aim of this study was to estimate the prevalence and multiplicity of the FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G variants among healthy Jordanians.Methods: This cross-sectional study was conducted on randomly selected healthy Jordanian participants. Non-Jordanians and those with a history of arterial/venous thrombosis, atherosclerosis, or a history of recurrent abortions were excluded from the study. PCR was used to detect variants in DNA extracted from participants’ blood samples.Results: A total of 300 subjects were screened: 170 (56.7%) females with an average age of 27.78± 9.32 years and 130 (43.3%) males with an average age of 29.88± 8.55 years. Genetic variants (at least one) were found in 75% of the subjects (81.2% among females and 66.9% among men), while 64.7%, 52%, and 12% were found to have at least two, three, and four variants, respectively. Overall, 21%, 29%, 54.3%, 27.3%, 7.7%, and 66% of participants were found to have FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G gene variants, respectively.Conclusion: Three-quarters of our population had at least one of the thrombophilia genetic variants, and most had more than one variant. The most common variants detected were associated with MTHFR, followed by PAI-I, FV, and then II. We observed that females had higher prevalence estimates than males. However, multiplicity among males was significantly higher than females. Our findings indicated noticeable differences in prevalence estimates compared with other populations.Keywords: thrombophilia, gene mutations, factor V Leiden, FV, MTHFR, factorII, PAI-I