The correlation of estrogen receptor 1 and progesterone receptor genes polymorphisms with recurrent pregnancy loss in a cohort of Egyptian women.

ABSTRACT

Recurrent pregnancy loss (RPL) represents one of the pregnancy complications affecting 1-3% of women. Sex hormones, progesterone and estrogen play a critical role in the maintenance of pregnancy; they are mediated by estrogen receptor 1 (ESR1) and progesterone receptor (PR) genes respectively. Polymorphisms of (ESR1) and (PR) genes are linked to RPL. We aimed to explore the association of single nucleotide polymorphisms (SNPs) of (ESR1) gene and (PR) gene with RPL in a cohort of Egyptian population (50 infertile Egyptian women who experienced RPL and 50 healthy women), using polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) of (ESR1) gene and DNA sequencing of exons 1 and 5 of (PR) gene. Genotyping of ESR1 gene SNP's (rs2234693) and (rs9340799) revealed higher significance in cases compared to controls of p value (p = 0.006 and p = 0.001) respectively. However, the frequencies of the two variants in (PG) gene; S344T (rs3740753) (p = 0.0001) and H770H (rs1042839) (p = 0.001) were significantly higher in women compared to the healthy control women. New polymorphism P352Q was observed in 2% of cases (p = 0.0001). There was a significant association of SNP's of ESR1 and PR genes with recurrent pregnancy loss RPL. Further demographics studies should be carried on a larger number of women at risk of recurrent implantation to elucidate this SNP's association and its role in RPL women.