Prevalence of coagulation factor XIII and plasminogen activator inhibitor-1 gene polymorphisms among Egyptian women suffering from unexplained primary recurrent miscarriage.
Recurrent miscarriage (RM) is an obstetric challenge. Polymorphisms of factor XIII (FXIII) and plasminogen activator inhibitor-1 (PAI-1) may cause an imbalance between coagulation and fibrinolysis that can end in RM. The aim of the work was to determine the prevalence of FXIII Val34Leu and PAI-1 4G/5G gene polymorphisms in Egyptian women presenting with unexplained primary first trimester RM. Genotyping of 120 unexplained primary first trimester RM patients and 130 healthy controls by polymerase chain reaction (PCR) amplification of target genes followed by the allele-specific restriction enzyme digestion (RFLP technique). Among the cases, 67.5% of individuals had wild-type FXIII; 21.7% were heterozygous and 10.8% were homozygous for the FXIII Val34Leu polymorphism. Among controls, the proportions were 89.2%, 8.5% and 2.3% respectively. In addition, comparison between the two groups regarding Leu and 4G allele frequencies showed statistically significant differences (P values=0.0001 and 0.027 respectively). RM is more frequent in women with combined polymorphisms than in women with a single gene polymorphism (RR=3.91; OR=4.51; 95% CI=1.79-11.38; P=0.002). FXIII Val34Leu and PAI-1 4G/5G polymorphisms are prevalent in Egyptian women, with unexplained primary first trimester RM and combined polymorphisms statistically increasing the risk.
Clinical Pathology Department, Faculty of Medicine, Cairo University, Egypt.
Iman Rifaat
IR
Elmahgoub
Clinical Pathology Department, Faculty of Medicine, Cairo University, Egypt.
Reham Abdelaleem
RA
Afify
Clinical Pathology Department, Faculty of Medicine, Cairo University, Egypt.
Asmaa Ahmed
AA
Abdel Aal
Obstetrics and Gynaecology Department, Faculty of Medicine, Cairo University, Egypt. Electronic address: wssherbiny@kasralainy.edu.eg.
Walid Sayed
WS
El-Sherbiny
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D016022:Case-Control Studies; D004534:Egypt; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D005176:Factor XIII
Coagulation factor XIII; Plasminogen activator inhibitor-1; Polymorphism; Recurrent miscarriage