Molecular thrombophilic profile in Mexican patients with idiopathic recurrent pregnancy loss

Abstract

Idiopathic recurrent pregnancy loss (IRPL) is defined by three or more consecutive miscarriages occurring before the twentieth week of gestation as a result of unidentified etiological factors. The results of previous studies have indicated that prothrombotic factors play a pathogenic role in early and late pregnancy. This study aimed to identify inherited prothrombotic and hypofibrinolytic risk factors in Mexican-Mestizo patients with IRPL. Fifty-six women with IRPL and 50 control women with at least two full-term pregnancies and no history of RPL were included in this case-control study. Four prothrombotic (F5 G1691A, F2 G20210A, MTHFR C677T-A1298C) and one hypofibrinolytic (PAI1 4G/5G) restricted fragment length polymorphisms were subjected to molecular analysis. In the case of hypofibrinolytic ACE Ins/Del (I/D), identification was performed by direct PCR. The independent risk correlated with the presence of polymorphisms in IRPL patients was estimated using odds ratio (OR) with a 95% confidence interval (CI). MTHFR 677TT was the most frequent prothrombotic factor in the IRPL group (23%), followed by the compound-heterozygous C677T-A1298C (16%) and heterozygous F2 20210GA (3.6%). The heterozygous ACE I/D (62%) was the main hypofibrinolytic risk factor of IRPL, followed by the homozygote PAI1 4G/4G (18%). The ACE I/D polymorphism was the only significantly different factor among the cases and controls. The dominant genetic model D/D+I/D vs I/I showed an OR (95%CI) of 2.89 (1.22-6.89) and P = 0.019 in Mexican-Mestizo women. The results of this study support an association between the ACE I/D polymorphism and IRPL risk in a Mexican population.

Association of Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism with Recurrent Pregnancy Loss: a Meta-Analysis of 26 Case-Control Studies

“…Finally, a total of 26 case-control studies with 3,140 RPL cases and 3,370 controls were included in the present meta-analysis. 14 15 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 The characteristics of the selected studies are summarized in Table 1 . Of these, 10 case-control studies involving 1,391 cases and 1,292 controls were conducted in Caucasians, 25 26 28 31 36 37 40 41 44 48 10 case-control studies in the west-Asians, 15 27 29 32 33 39 42 45 47 with 984 cases and 1,108 cases, 4 case-control studies in the East-Asians, 14 30 34 with 670 cases and 880 controls, 1 study involving 55 cases and 50 controls in Latinos, 43 and 1 study with 40 cases and 40 controls in Africans.…”

The prevalence of specific gene polymorphisms related to thrombophilia in Egyptian women with recurrent pregnancy loss

“…D allele frequency in our Egyptian sample was close to that reported among women withRPL in different studies from different ethnic groups. [ 8 9 22 29 31 32 33 34 ] In contrary, other studies did not find an association between ACE I/D gene polymorphism and RPL. [ 23 24 25 26 27 28 30 ] Table 5 shows the allele frequency of ACE I/D gene polymorphism of our studied sample in comparison with other studies from different countries.…”

Methylenetetrahydrofolate Reductase Polymorphism and Premature Coronary Artery Disease

“…In the literature, no studies detail differences in the severity of cardiovascular events based on various polymorphisms. A study has demonstrated that patients with C677T homozygous mutations have an increased risk of venous thromboembolism (VTE) and thromboembolism (23%) compared to compound heterozygous C677T-A1298C (16%) [5]. Furthermore, Day et al demonstrated that variants in MTHFR may influence the progression or severity of pulmonary vascular disease [3].…”