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

Abstract

Background: 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.

Association of inherited thrombophilia mutations and their combinations among palestinian women with unexplained recurrent miscarriage

“…The prevalence of PAI1 5G/4G and FV HR2 mutations among the Palestinian population was not reported previously. Also, the prevalence of the main four IT (FVL, FII G20210A, MTHFR C677T and A1298C) among Palestinians was within the range observed in neighboring Arab countries, namely Lebanon [ 24 ], Jordan [ 42 ], Syria [ 43 ] and Egypt [ 44 ]. These neighboring Arab countries and Palestine have similar genetic backgrounds (Table 5 ).…”

Detection of Inherited Thrombophilic Mutations in Jordanian Children Suffering from Thrombotic Events

“…Endogamy among Jordanian society may explain the high prevalence of these mutations. In a previous study conducted on Jordanian general population, the prevalence of PAI-I 4G/5G polymorphism was 66% (Al-Zoubi et al, 2021). According to recent study, the presence of PAI-1 4G/4G polymorphism increased the risk of arterial and venous thrombosis of varied localization in infants by 48.8% and the likelihood of thrombosis by 9 folds (Filippova et al, 2020).…”

Impact of Thrombophilic Polymorphisms in Antenatal Women on Perinatal Health: A Single-Center Prospective Study

“…Among our cohort of healthy pregnant carriers, the most prevalent single polymorphisms were PAI-1 mutation and MTHFR, consistent with findings from other European nations. For instance, an Italian case-control study reported a 50.5% prevalence of PAI-1 gene 4G/5G polymorphisms among Italians [39], while, in a study from Jordan, the prevalence was estimated to be around 66% [40]. Wilcken et al noted an increasing prevalence of the MTHFR 6777 TT genotype in Europe, with higher rates observed in southern regions [41].…”