Abstract
Maternally inherited thrombophilia could be one of the causes of recurrent spontaneous miscarriage (RSM). We aimed to investigate the frequency of three thrombotic gene variants; factor V Leiden (FVL; G1691A), prothrombin (PTH; G20210A), and methylenetetrahydrofolate reductase (MTHFR; C677T) in Saudi patients diagnosed with RSM. A case control study was conducted on 96 RSM patients and 96 age-matched controls. Genotyping was based on polymerase chain reaction followed by hybridization with variant-specific oligonucleotide probes using FV-PTH-MTHFR Strip Assay. There was a significantly higher frequency of the AA genotype of FVL in the RSM group when compared to controls (P < 0.001, OR (95% CI) = 15.7 (3.6-68.5). For the PTH G20210A mutation, the heterozygous genotype (GA) showed significantly higher frequency in patient group than control group (P < 0.0001, OR (95% CI) = 3.8 (2.05-6.9). For the MTHFR C677T mutation, there was no significant difference in the distribution of genotypes and alleles among the patients and controls. There was a significant association between the combined genotypes; FVL AA, PTH GA, and MTHFR CC as well as FVL GA, PTH GA, and MTHFR CT and patients group when compared to the control group. The FVL and PTH variants could be helpful in identifying RSM risk among Saudi women in the Northern area of Saudi Arabia. The combination of a panel of variants may be more conclusive in prediction of the disease risk compared to the small effect of individual mutation