Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study
Introduction: Thrombophilia genes are frequently reported to be major risk factors in the development of cardiovascular disease, thromboembolism and more importantly of pregnancy abortion. The study was conducted to investigate the prevalence rate of thrombophilia polymorphisms in Iranian women. Met...
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| Format: | Article |
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Mashhad University of Medical Sciences
2020-06-01
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| Series: | Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān |
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| Online Access: | https://ijogi.mums.ac.ir/article_16288_d539c8604c145b83a3c5b85d0fe47a0b.pdf |
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| author | Amir Sohrabi Fatemeh Eskandari Massoud Hajia |
| author_facet | Amir Sohrabi Fatemeh Eskandari Massoud Hajia |
| author_sort | Amir Sohrabi |
| collection | DOAJ |
| description | Introduction: Thrombophilia genes are frequently reported to be major risk factors in the development of cardiovascular disease, thromboembolism and more importantly of pregnancy abortion. The study was conducted to investigate the prevalence rate of thrombophilia polymorphisms in Iranian women.
Methods: 591 women had miscarriage and infertility disorders who were referred to a private pathobiology laboratory in Tehran, Iran. The subjects were evaluated for single nucleotide polymorphisms using PCR-RFLP procedure during February 2013 to May 2016. Current method was validated and verified for specificity, sensitivity and accuracy by approved and known mutations controls and bioinformatics software’s.
ResultsAt present study, homozygosity of prothrombin (AA), leiden (AA) and HPA-1 (TT) were not diagnosed. Among these genotypes, occurrence of FII (Wild type-GG and heterozygous-GA) was highest and lowest rate as 96.3% and 3.7%, respectively. The MTHFR 1298 A>C (AC and CC) had the highest frequency (296 subjects) comparison with the other ones. Outcomes frequency rates (%) of heterozygosity PAI-1, MTHFR1298, MTHFR677, Factor XIII, HPA-1, β-Fibrinogen, Factor V Leiden and Prothrombin were 72.6 %, 70%, 40.5%, 29.4%, 25.5%, 20%, 4.4% and 3.7%, respectively.
Conclusion: Heterozygosity prevalence rate of PAI-1, MTHFR1298 and MTHFR677 are the most common in women. It would appear thrombophilia genes should be considered in preventive strategies particularly in coagulopathy and miscarriage disorders. |
| first_indexed | 2024-04-11T23:05:52Z |
| format | Article |
| id | doaj.art-0834b79650274e0788a688091cc57669 |
| institution | Directory Open Access Journal |
| issn | 1680-2993 2008-2363 |
| language | fas |
| last_indexed | 2024-04-11T23:05:52Z |
| publishDate | 2020-06-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān |
| spelling | doaj.art-0834b79650274e0788a688091cc576692022-12-22T03:58:00ZfasMashhad University of Medical SciencesMajallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān1680-29932008-23632020-06-01234394410.22038/ijogi.2020.1628816288Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive studyAmir Sohrabi0Fatemeh Eskandari1Massoud Hajia2PhD in Molecular Medicine, Department of Medical Epidemiology and Bio-informatics, Karolinska Institute, Stockholm, Sweden.M.Sc. in Biology-Genetic, Saeed Pathobiology Laboratory, Tehran, Iran.PhD in Medical Microbiology, Department of Molecular Biology, Research Center of Health Reference Laboratory, Ministry of Health and Medical Education, Tehran, Iran.Introduction: Thrombophilia genes are frequently reported to be major risk factors in the development of cardiovascular disease, thromboembolism and more importantly of pregnancy abortion. The study was conducted to investigate the prevalence rate of thrombophilia polymorphisms in Iranian women. Methods: 591 women had miscarriage and infertility disorders who were referred to a private pathobiology laboratory in Tehran, Iran. The subjects were evaluated for single nucleotide polymorphisms using PCR-RFLP procedure during February 2013 to May 2016. Current method was validated and verified for specificity, sensitivity and accuracy by approved and known mutations controls and bioinformatics software’s. ResultsAt present study, homozygosity of prothrombin (AA), leiden (AA) and HPA-1 (TT) were not diagnosed. Among these genotypes, occurrence of FII (Wild type-GG and heterozygous-GA) was highest and lowest rate as 96.3% and 3.7%, respectively. The MTHFR 1298 A>C (AC and CC) had the highest frequency (296 subjects) comparison with the other ones. Outcomes frequency rates (%) of heterozygosity PAI-1, MTHFR1298, MTHFR677, Factor XIII, HPA-1, β-Fibrinogen, Factor V Leiden and Prothrombin were 72.6 %, 70%, 40.5%, 29.4%, 25.5%, 20%, 4.4% and 3.7%, respectively. Conclusion: Heterozygosity prevalence rate of PAI-1, MTHFR1298 and MTHFR677 are the most common in women. It would appear thrombophilia genes should be considered in preventive strategies particularly in coagulopathy and miscarriage disorders.https://ijogi.mums.ac.ir/article_16288_d539c8604c145b83a3c5b85d0fe47a0b.pdfpolymorphismthrombophilia genesmiscarriage |
| spellingShingle | Amir Sohrabi Fatemeh Eskandari Massoud Hajia Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān polymorphism thrombophilia genes miscarriage |
| title | Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study |
| title_full | Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study |
| title_fullStr | Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study |
| title_full_unstemmed | Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study |
| title_short | Analysis of Polymorphisms of Thrombophilia Genes as Risk Factor of Miscarriage: a cross-sectional descriptive study |
| title_sort | analysis of polymorphisms of thrombophilia genes as risk factor of miscarriage a cross sectional descriptive study |
| topic | polymorphism thrombophilia genes miscarriage |
| url | https://ijogi.mums.ac.ir/article_16288_d539c8604c145b83a3c5b85d0fe47a0b.pdf |
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