Multiple Inherited Thrombophilic Gene Polymorphisms in Spontaneous Abortions in Turkish Population


Yalcintepe S. , ÖZDEMİR Ö. , HACIVELİOĞLU S. Ö. , Akurut C., Koc E. , ULUDAĞ A. , ...Daha Fazla

INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, cilt.4, ss.120-127, 2015 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 4 Konu: 2
  • Basım Tarihi: 2015
  • Dergi Adı: INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE
  • Sayfa Sayıları: ss.120-127

Özet

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.