Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study
<b>Background:</b> Thrombophilia, a predisposition to develop blood clots, is very common and can have serious sequelae. <b>Aim:</b> This study aimed to determine the prevalence of three thrombophilia-related genetic variants—factor V Leiden (FVL), prothrombin (F2) G20210A, a...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-10-01
|
| Series: | Pathophysiology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1873-149X/31/4/44 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850085259475943424 |
|---|---|
| author | Sapha Shibeeb Nada Al-Rayashi Nehal Shams Tameem Hadvan Ejaife O. Agbani Atiyeh M. Abdallah |
| author_facet | Sapha Shibeeb Nada Al-Rayashi Nehal Shams Tameem Hadvan Ejaife O. Agbani Atiyeh M. Abdallah |
| author_sort | Sapha Shibeeb |
| collection | DOAJ |
| description | <b>Background:</b> Thrombophilia, a predisposition to develop blood clots, is very common and can have serious sequelae. <b>Aim:</b> This study aimed to determine the prevalence of three thrombophilia-related genetic variants—factor V Leiden (FVL), prothrombin (F2) G20210A, and MTHFR C677T—in the Qatari population and their associations with self-reported thrombosis. <b>Methods:</b> We analysed samples from 408 Qatari participants [304 controls and 104 with self-reported thrombosis (deep vein thrombosis, pulmonary embolus, or ischaemic stroke)] from the Qatar Biobank. FVL (rs6025), F2 (rs1799963), and MTHFR (rs1801133) variants were genotyped using TaqMan assays. <b>Results:</b> Participants with self-reported thrombosis were older and more likely to be female. FVL A allele carriage (GA + AA vs. GG) was significantly higher in thrombosis cases (OR 3.6, <i>p</i> = 0.0002). In addition, individuals carrying FVL AA and GA genotypes had a lower mean platelet volume on average than those with the GG genotype (<i>p</i> = 0.03). MTHFR C677T did not show a similar association, and the F2 G20210A variant was too rare for analysis. <b>Conclusions:</b> There were significant differences in FVL A allele carriage between individuals with a history of thrombosis and the control group. Future research should explore the complex interplay between genetics and environment in thrombosis risk within this population. |
| format | Article |
| id | doaj-art-39060f58d51d45508fbc52a55644dcc3 |
| institution | DOAJ |
| issn | 1873-149X |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pathophysiology |
| spelling | doaj-art-39060f58d51d45508fbc52a55644dcc32025-08-20T02:43:46ZengMDPI AGPathophysiology1873-149X2024-10-0131460862010.3390/pathophysiology31040044Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control StudySapha Shibeeb0Nada Al-Rayashi1Nehal Shams2Tameem Hadvan3Ejaife O. Agbani4Atiyeh M. Abdallah5School of Health and Biomedical Sciences, RMIT University, P.O. Box 71, Bundoora, Melbourne, VIC 3083, AustraliaDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha 2713, QatarDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha 2713, QatarDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha 2713, QatarDepartment of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, CanadaDepartment of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha 2713, Qatar<b>Background:</b> Thrombophilia, a predisposition to develop blood clots, is very common and can have serious sequelae. <b>Aim:</b> This study aimed to determine the prevalence of three thrombophilia-related genetic variants—factor V Leiden (FVL), prothrombin (F2) G20210A, and MTHFR C677T—in the Qatari population and their associations with self-reported thrombosis. <b>Methods:</b> We analysed samples from 408 Qatari participants [304 controls and 104 with self-reported thrombosis (deep vein thrombosis, pulmonary embolus, or ischaemic stroke)] from the Qatar Biobank. FVL (rs6025), F2 (rs1799963), and MTHFR (rs1801133) variants were genotyped using TaqMan assays. <b>Results:</b> Participants with self-reported thrombosis were older and more likely to be female. FVL A allele carriage (GA + AA vs. GG) was significantly higher in thrombosis cases (OR 3.6, <i>p</i> = 0.0002). In addition, individuals carrying FVL AA and GA genotypes had a lower mean platelet volume on average than those with the GG genotype (<i>p</i> = 0.03). MTHFR C677T did not show a similar association, and the F2 G20210A variant was too rare for analysis. <b>Conclusions:</b> There were significant differences in FVL A allele carriage between individuals with a history of thrombosis and the control group. Future research should explore the complex interplay between genetics and environment in thrombosis risk within this population.https://www.mdpi.com/1873-149X/31/4/44thrombophiliathrombosisfactor V LeidenprothrombinMTHFRmean platelet volume |
| spellingShingle | Sapha Shibeeb Nada Al-Rayashi Nehal Shams Tameem Hadvan Ejaife O. Agbani Atiyeh M. Abdallah Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study Pathophysiology thrombophilia thrombosis factor V Leiden prothrombin MTHFR mean platelet volume |
| title | Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study |
| title_full | Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study |
| title_fullStr | Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study |
| title_full_unstemmed | Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study |
| title_short | Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study |
| title_sort | factor v leiden r506q prothrombin g20210a and mthfr c677t variants and thrombophilia in qatar biobank participants a case control study |
| topic | thrombophilia thrombosis factor V Leiden prothrombin MTHFR mean platelet volume |
| url | https://www.mdpi.com/1873-149X/31/4/44 |
| work_keys_str_mv | AT saphashibeeb factorvleidenr506qprothrombing20210aandmthfrc677tvariantsandthrombophiliainqatarbiobankparticipantsacasecontrolstudy AT nadaalrayashi factorvleidenr506qprothrombing20210aandmthfrc677tvariantsandthrombophiliainqatarbiobankparticipantsacasecontrolstudy AT nehalshams factorvleidenr506qprothrombing20210aandmthfrc677tvariantsandthrombophiliainqatarbiobankparticipantsacasecontrolstudy AT tameemhadvan factorvleidenr506qprothrombing20210aandmthfrc677tvariantsandthrombophiliainqatarbiobankparticipantsacasecontrolstudy AT ejaifeoagbani factorvleidenr506qprothrombing20210aandmthfrc677tvariantsandthrombophiliainqatarbiobankparticipantsacasecontrolstudy AT atiyehmabdallah factorvleidenr506qprothrombing20210aandmthfrc677tvariantsandthrombophiliainqatarbiobankparticipantsacasecontrolstudy |