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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.

SUBMITTER: Issa NM 

PROVIDER: S-EPMC8057147 | biostudies-literature |

REPOSITORIES: biostudies-literature

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