title: Estrogen Receptor Alpha (ESR1) Gene Polymorphisms in Pre-eclamptic Saudi Patients.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Hesham A
authors.initials: HA
authors.lastname: El-Beshbishy
authors.affiliation: 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.
authors.forename: Manal A
authors.initials: MA
authors.lastname: Tawfeek
authors.affiliation: Nevin M. Al-Azhary, Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt. Biochemistry & Molecular Medicine Department, College of Medicine, Taibah University, Madina, Saudi Arabia.
authors.forename: Nevin M
authors.initials: NM
authors.lastname: Al-Azhary
authors.affiliation: Reham A. Mariah, Medical Biochemistry Department, Faculty of Medicine, Tanta University, Tanta, Egypt. Biochemistry & Molecular Medicine Department, College of Medicine, Taibah University, Madina, Saudi Arabia.
authors.forename: Reham A
authors.initials: RA
authors.lastname: Mariah
authors.affiliation: Fawzia A. Habib, Obstetrics and Gynecology Department, College of Medicine, Taibah University, Madina, Saudi Arabia.
authors.forename: Fawzia A
authors.initials: FA
authors.lastname: Habib
authors.affiliation: Lamya Aljayar, Obstetrics and Gynecology Department, Madina Maternity Children Hospital, Madina, Saudi Arabia.
authors.forename: Lamya
authors.initials: L
authors.lastname: Aljayar
authors.affiliation: Abrar F. Alahmadi, Obstetrics and Gynecology Department, Madina Maternity Children Hospital, Madina, Saudi Arabia.
authors.forename: Abrar F
authors.initials: AF
authors.lastname: Alahmadi
keywords: Estrogen receptor alpha; Polymorphism; Pre-eclampsia; Pregnancy