The frequency of genetic factors of thrombophilia in women with recurrent pregnancy losses

Abstract

Aim. There is growing evidence that recurrent pregnancy losses (RPL) are associated with the presence of inherited thrombophilias but data are inconsistent. The present study aimed to assess the distribution of inherited risk factors of thrombophilia among women with RPL. Methods. We studied 68 women with RPL and 120 healthy women of control group, inhabitants of Western Ukraine. In all subjects the detection of genetic factors of thrombophilia were determined by polymerase chain reaction and restriction fragment length polymorphism method. Results. The prevalence of heterozygotes for FV 1691G/A among women with RPL and controls were: 12 % versus 4 %, respectively. Women heterozygosity for factor V Leiden was significantly more prevalent in the RPL group than in controls (OR 3.11, 95 % CI 1.02–9.46). Results showed that carriers of PAI-1 4G allele have increased odds on more than 2 times in comparison to the carriers of homozygous 5G5G genotypes. A significant relationship between allele variation 677T of MTHFR gene (OR 1.70, 95 % CI 1.09–2.67) and RPL was observed. Conclusions. Significance of 1691G/A mutation of V blood coagulation factor gene, alleles variations of 677T of MTHFR gene and 4G of PA1-1 gene in the structure of predisposition to RPL in group of west Ukrainian women was established.
 Keywords: genetic factors, hereditary thrombophilia, molecular genetic testing, RPL.