El-Beshbishy Hesham A, Tawfeek Manal A, Al-Azhary Nevin M, Mariah Reham A, Habib Fawzia A, Aljayar Lamya, Alahmadi Abrar F
Hesham A. El-Beshbishy, Center for Genetics and Inherited Diseases, Taibah University, Madina, Saudi Arabia. Medical Laboratories Technology Department, Faculty of Applied Medical Sciences, Taibah University, Madina, Saudi Arabia. Biochemistry Department, Al-Azhar University, Nasr City, Cairo 11751, Egypt.
Manal A. Tawfeek, Clinical Pathology Department, Faculty of Medicine, Tanta University, Tanta, Egypt. Biochemistry & Molecular Medicine Department, College of Medicine, Taibah University, Madina, Saudi Arabia.
Pak J Med Sci. 2015 Jul-Aug;31(4):880-5. doi: 10.12669/pjms.314.7541.
Pre-eclampsia causes maternal mortality worldwide. Estrogen receptor alpha (ESR1) gene polymorphisms were responsible for cardiovascular diseases. This case control study was conducted to investigate whether 2 polymorphic genes of ESR1 are associated with pre-eclampsia among Saudi women in Madina city, Saudi Arabia.
Blood samples from 97 pre-eclamptic and 94 healthy pregnant women were analyzed using restriction fragment length polymorphism-polymerase chain reaction method. All the subjects were recruited randomly from outpatient clinics of Madina Maternity Children Hospital (MMCH), Madina, Saudi Arabia, between Dec. 2012 and Jan. 2014.
There was no association between pre-eclampsia and PvuII and XbaI ESR1 gene polymorphisms individually. TT/AA and TT/AG genotype combination existed significantly in pre-eclamptic patients compared to control. The frequency of PvuII and XbaI combined TT/AA genotypes between pre-eclamptic women was 36.1% vs 9.6%, however, frequency of PvuII and XbaI combined TT/AG genotypes between pre-eclamptic women was 3.1% vs 17%, compared to control. The homozygous T-A haplotype carriers showed high pre-eclampsia risk, independent of pregnancy, BMI and smoking status (adjusted odds ratio (OR): 3.26, 95% confidence interval (CI):1.71-9.21). The heterozygous T-A haplotype carriers did not differ from that of non-carriers (adjusted OR: 1.12, 95% CI: 0.47-2.75). No association was observed between pre-eclampsia and T-G, C-G and C-A haplotype of PvuII and XbaIESR1 gene polymorphisms.
T-A haplotype of homozygous associated with pre eclampsia not heterozygous carriers of ESR 1 PvuII and XbaI gene polymorphisms elicited high risk of pre-eclampsia. GG genotype of XbaI polymorphism decreased pre-eclampsia risk. Further studies using larger sample size are recommended to investigate the ESR 1 gene polymorphisms associated with pre-eclampsia.
子痫前期在全球范围内导致孕产妇死亡。雌激素受体α（ESR1）基因多态性与心血管疾病有关。本病例对照研究旨在调查ESR1的两个多态性基因是否与沙特阿拉伯麦地那市的沙特女性子痫前期相关。
采用限制性片段长度多态性-聚合酶链反应方法分析97例子痫前期孕妇和94例健康孕妇的血样。所有受试者于2012年12月至2014年1月期间从沙特阿拉伯麦地那市麦地那妇幼医院（MMCH）的门诊随机招募。
子痫前期与PvuII和XbaI ESR1基因多态性之间无单独关联。与对照组相比，子痫前期患者中TT/AA和TT/AG基因型组合显著存在。子痫前期女性中PvuII和XbaI联合TT/AA基因型的频率为36.1%，而对照组为9.6%；子痫前期女性中PvuII和XbaI联合TT/AG基因型的频率为3.1%，而对照组为17%。纯合T-A单倍型携带者显示出子痫前期高风险，独立于妊娠、BMI和吸烟状况（调整优势比（OR）：3.26，95%置信区间（CI）：1.71 - 9.21）。杂合T-A单倍型携带者与非携带者无差异（调整OR：1.12，95%CI：0.47 - 2.75）。未观察到子痫前期与PvuII和XbaI ESR1基因多态性的T-G、C-G和C-A单倍型之间存在关联。
ESR1 PvuII和XbaI基因多态性的纯合T-A单倍型与子痫前期相关，而非杂合携带者引发子痫前期的高风险。XbaI多态性的GG基因型降低了子痫前期风险。建议使用更大样本量进行进一步研究，以调查与子痫前期相关的ESR1基因多态性。
