Department of Physiology, King Saud Bin Abdulaziz University of Health Sciences, Riyadh, Kingdom of Saudi Arabia. E-mail.
Saudi Med J. 2020 Nov;41(11):1234-1240. doi: 10.15537/smj.2020.11.25497.
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.
We 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.
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.
在巴基斯坦女性人群中，研究原脯肽酶基因变异与先兆子痫发展之间的关系。
这是 2018 年 5 月至 2019 年在巴基斯坦卡拉奇大学进行的一项病例对照研究。通过聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）分析，在 76 例先兆子痫和 74 例正常妊娠的孕妇中检测 rs12597511 位点的单核苷酸多态性（SNP）。
与 TT 基因型相比（p<0.001，OR=8.08，95%CI：1.28-31.19）和 TT/TC 基因型携带者（p<0.001，OR=14.66，95%CI：3.31-65.07），我们观察到 rs12597511 多态性的 CC 基因型与先兆子痫的发生显著相关，风险增加。计算等位基因分布显示，在对照组中 T 等位基因（82%）的频率较高；然而，C 等位基因在先兆子痫组中更为常见（36%），差异具有统计学意义。
rs12597511 位点原脯肽酶基因的 C 等位基因频率在先兆子痫组中显著升高，表明原脯肽酶基因 C 等位基因的分布是导致先兆子痫发生的潜在危险因素。
