• Saima Ejaz, Anwar Ali, Kamran Azim, Atif Mahmood, Asif I Khan, Tuline A Almazyad, and Bushra Bilal.
• Department of Physiology, King Saud Bin Abdulaziz University of Health Sciences, Riyadh, Kingdom of Saudi Arabia. E-mail. saimaejaz84@outlook.com.
• Saudi Med J. 2020 Nov 1; 41 (11): 1234-1240.

ObjectivesTo 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.ResultsWe observed significantly increased risk of preeclampsia associated with the CC genotype of rs12597511 polymorphism as compared to TT (p less than 0.001, OR=8.08, 95% CI: 1.28-31.19) and TT/TC (p less than 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.ConclusionThe 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.

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