RT Journal Article SR Electronic T1 Association between preeclampsia and prostasin polymorphism in Pakistani females JF Saudi Medical Journal JO Saudi Med J FD Prince Sultan Military Medical City SP 1234 OP 1240 DO 10.15537/smj.2020.11.25497 VO 41 IS 11 A1 Ejaz, Saima A1 Ali, Anwar A1 Azim, Kamran A1 Mahmood, Atif A1 Khan, Asif I. A1 Almazyad, Tuline A. A1 Bilal, Bushra YR 2020 UL http://smj.org.sa/content/41/11/1234.abstract AB Objectives: To investigate the relationship between a prostasin gene variations and the development of preeclampsia in a Pakistani female population.Methods: This was a case-control study carried out at University of Karachi, Karachi, Pakistan between May 2018 and 2019. A single nucleotide polymorphism (SNP) at rs12597511 locus was examined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses in 76 preeclamptic and 74 normotensive expecting mothers.Results: We observed significantly increased risk of preeclampsia associated with the CC genotype of rs12597511 polymorphism as compared to TT (p<0.001, OR=8.08, 95% CI:1.28-31.19) and TT/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.