The Role of Prothrombin gene and Methylene tetrahydrofolate reductase gene polymorphisms and Thrombophilia markers as risk factors for recurrent unexplained miscarriage

Document Type : Original Article

Authors

1 Clinical pathology department, Faculty of Medicine,Assiut University,Egypt

2 Obstetrics and Gynaecology department,Faculty of Medicine,Assiut University,Egypt

3 Clinical pathology department,Faculty of Medicine,Assiut University,Egypt

4 Department of Obstetrics and Gynecology, Faculty of Medicine, Assiut University, Assiut, Egypt

5 Clinical pathology department , Faculty of Medicine,Assiut University Assiut, EGYPT

6 Clinical pathology department ,Faculty of Medicine,Assiut University,Egypt

10.22074/ijfs.2023.1986225.1418

Abstract

Abstract

Background: Recurrent unexplained miscarriage is still unsolved reproductive health problem. Inherited thrombophilias have been accused as one of the causes. Secondary to an increased tendency for venous thromboembolism because of a mutation in a gene encoding a protein involved in the coagulation cascade. These include prothrombin gene (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) mutations. The study aims to evaluate the association between polymorphisms in the prothrombin gene and the MTHFR gene with recurrent miscarriage (RM). We also evaluated the association between Protein C (PC), Protein S (PS) ,Antithrombin III (ATIII) and homocystiene with (RM).

Methods: We conducted a cross sectional-study (NCT03209063) that recruited women with a history of two or more miscarriages and healthy controls with no history of miscarriage and had at least one full-term normal pregnancy.

Results: We recruited 195 cases in RM group (group I) and 90 healthy controls (group II). PC deficiency in group I was 7.2% compared to 1.1% in group II. PS deficiency in group I was 65.6% compared to 7.8% in group II. ATIII deficiency in group I was 9.2% compared to 2.2% in group II.Hyperhomocysteinemia in group I was 10.8% compared to to 2.2% in group II. Regarding prothrombin gene G20210A, the hetero-mutant A/G was present in only two patients among Group I comparing to no participants among Group II. There was no AA either in group I or group II. Regarding MTHFR C677T gene, hetero-mutant C/T was present in 33.3% among group I and in 32.2% among group II, and homomutant T/T present in 12.8% among group I and in 8.9% among group II.

Conclusion: Prothrombin gene G20210A and MTHFR C677T gene polymorphisms are not correlated with RM in the Egyptian population. However, Egyptian women with RM are strongly associated with hyperhomocysteinemia, PC, PS, and AT deficiencies.

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