TY - JOUR T1 - Association between preeclampsia and prostasin polymorphism in Pakistani females JF - Saudi Medical Journal JO - Saudi Med J SP - 1234 LP - 1240 DO - 10.15537/smj.2020.11.25497 VL - 41 IS - 11 AU - Saima Ejaz AU - Anwar Ali AU - Kamran Azim AU - Atif Mahmood AU - Asif I. Khan AU - Tuline A. Almazyad AU - Bushra Bilal Y1 - 2020/11/01 UR - http://smj.org.sa/content/41/11/1234.abstract N2 - 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. ER -