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

Abstract

Background: Despite the enhanced progress in identifying a number of leading causes to fetal miscarriage, still some women suffer from recurrent pregnancy loss (RPL) for unknown cause. A hidden genetic influence of coexisting hereditary thrombophilia was assumed to have a role. Aim: The aim was to investigate the association between unexplained RPL and thrombophilic gene variants of angiotensin I-converting enzyme (ACE) (rs4646994) and β -fibrinogen (rs1800790) genes. Settings and Design: The present case–control study was conducted on unexplained RPL in eighty women and eighty matched controls with no history of previous pregnancy loss. Materials and Methods: Analysis of extracted DNA was performed using polymerase chain reaction-restriction fragment length polymorphism method. Statistical Analysis: The frequency of genotypes and alleles was compared between groups using Chi-square test or Fisher's exact test. Risk assessment was made by odds ratio (OR) at a 95% confidence interval (CI). Results: Women with RPL group had higher frequency of DD than controls (47.5%, 31.25%, respectively, P = 0.086). D allele frequency was 0.67 and 0.54 in the control (P = 0.022). D allele carriers were at higher risk of RPL than the control as OR was 1.694 at 95% CI from 1.08 to 2.67. There was no association between the rs1800790 variant of β -fibrinogen gene and RPL. Conclusion: Females who are carriers for D allele of ACE I/D gene polymorphism are more liable to suffer from RPL. Screening for hereditary thrombophilia in females who are planning to conceive and have a history of RPL of unidentified cause is of great value to provide proper management and genetic counseling to high-risk couples.

Keywords

• β -fibrinogen gene
• angiotensin i-converting enzyme gene
• genetic polymorphisms
• hereditary thrombophilia
• recurrent pregnancy loss