Estrogen Receptor Alpha (ESR1) gene polymorphisms in pre-eclamptic Saudi patients

Objectives: 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 preeclamptic 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.