Multiple Inherited Thrombophilic Gene Polymorphisms in Spontaneous Abortions in Turkish Population

The aim of this study was to investigate the possible role of multiple inherited thrombophilic gene variations in
women with unexplained spontaneous abortions. For this purpose, the Factor V Leiden (FVL) (rs6025),
Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), PAI-1 4G/5G (rs1799889), ACE I/D
(rs1799752), eNOS E298D (rs1799983), and Apo E E2/E3/E4 (rs429358) polymorphisms were genotyped and
correlated in spontaneously aborted fetal materials, their mothers and fertile women. Twenty three abortion
materials, 22 women with ≥1 unexplained fetal loss, and 22 control subjects with at least two healthy term
infants as a control group were studied. Target SNPs for each gene were analyzed by real time-PCR technique
after genomic DNA isolation from maternal blood-EDTA, control group blood-EDTA and spontaneously
aborted fetal tissues. Some cases had a single thrombophilic polymorphism, but the rest of the patients and fetal
materials had combined thrombophilic polymorphisms. The PAI-1 4G/5G+4G/4G (P= 0.0017), 4G/4G (P=
0.0253), eNOS 894GT+894TT (P=0.0011) genotypes and T allele (P=0.0185), Apo E E3/E4+E3/E2+E2/E4
(P<0.0001) genotypes, E2 (P<0.0001) and E4 (P<0.0001) alleles were higher in spontaneously aborted fetal
materials when compared to their mothers and control group. The Factor V Leiden rs6025, Prothrombin
G20210A, MTHFR C677T, ACE I/D genotypes were different for each group but not statistically significant due
to relatively small size of the samples (P>0.05). Our results indicated that combined thrombophilic gene
variations may be associated with increased risk for spontaneous abortions and results need to be confirmed by
larger sample size.