Title: Association between Preeclampsia and Prostasin Polymorphism in Pakistani females


Objectives: To investigate the relationship betweet a prostasin gene variations and the development ofpreeclampsia in a Pakistani female population. Methods: This was a case-control study carried out atUniversity of Karachi, Karachi, Pakistan between May2018 and 2019. A single nucleotide polymorphism(SNP) at rs12597511 locus was examined withpolymerase chain reaction (PCR) and restrictionfragment length polymorphism (RFLP) analysesin 76 preeclamptic and 74 normotensive expecting mothers. Results: We observed significantly increased risk ofpreeclampsia associated with the CC genotype ofrs12597511 polymorphism as compared to TT(p<0.001, OR=8.08, 95% CI: 1.28-31.19) andTT/TC (p<0.001, OR=14.66 and 95% CI: 3.31-65.07) genotypes carriers. Calculation of the allelic distribution revealed a higher frequency of the T allele (82%) among controls; however, the C allele was more prevalent in the preeclamptic group (36%) significantly. Conclusion: The significantly higher C allele frequency in the prostasin gene at the rs12597511 locus in the preeclamptic group indicates that the distribution of the C allele of the prostasin gene is a potential risk factor contributing to the development of preeclampsia.