ASSOCIATION OF FACTOR 5 LEIDEN MUTATION IN HYPERTENSIVE DISORDERS OF PREGNANCY: A CASE-CONTROL STUDY OF PAKISTANI FEMALES' GENETIC SUSCEPTIBILITY

Abstract

Background: Chronic Hypertension, Gestational Hypertension, Preeclampsia, Eclampsia and Chronic Hypertension with superimposed Preeclampsia or Eclampsia are the categories for hypertensive disorders of pregnancy (HDP). Pakistan has a significant burden of hypertensive diseases, as seen by the 9.3% reported prevalence of HDP. The mutation of clotting factor 5 gene called factor 5 Leiden (FVL) has been linked to HDP; For various HDP subgroups, there is currently no information available regarding this mutation. Material & Methods: It was a case-control study conducted in the Department of Biochemistry. Time taken for this study was 10 to 12 months from the start of sample collection till final analysis of the data. 56 patients with HDP as cases, and 56 normotensive pregnant controls were taken from a tertiary care hospital, Lahore. DNA was extracted and allele specific amplification was performed to detect FVL mutation (rs6025). A band on the gel documentation system confirmed the presence of a mutation. Results: Genotypes observed: G/G (wild type) and A/G (mutation carriers). Chi-square test: Association observed (χ² = 5.23, p = 0.022). OR = 12.089 (CI: 2.65 – 55.20). Carriers of the FVL mutation are more likely to develop HDP Conclusion: The A/G genotype of the Factor V Leiden mutation is linked to a higher risk of pregnancy-related hypertension problems in our study sample. Although the mutation was found in just a few percent of patients and not in controls, it suggests a possible hereditary disorder.