en Genetics & Disease Genetics & Disease Original Article Original Article 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. Spontaneous abortion, thrombophilia, polymorphism, fetus 120 127 http://ijmcmed.org/browse.php?a_code=A-10-380-1&slc_lang=en&sid=1 Sinem Yalcintepe sinem_atik@yahoo.com 10031947532846004890 10031947532846004890 Yes Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Ozturk Ozdemir ozdemir615@yahoo.com 10031947532846004891 10031947532846004891 No Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Servet Ozden Hacivelioglu servetozden@comu.edu.tr 10031947532846004892 10031947532846004892 No Department of Gynecology and Obstetrics, School of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Cisem Akurut cisemakurut@hotmail.com 10031947532846004893 10031947532846004893 No Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Evrim Koc wrmkoc@gmail.com 10031947532846004894 10031947532846004894 No Department of Gynecology and Obstetrics, School of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Ahmet Uludag drahmetuludag@yahoo.com 10031947532846004895 10031947532846004895 No Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Emine Cosar dremineay@hotmail.com 10031947532846004896 10031947532846004896 No Department of Gynecology and Obstetrics, School of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. Fatma Silan fsilan@yahoo.com 10031947532846004897 10031947532846004897 No Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.