PMID- 34061327 OWN - NLM STAT- MEDLINE DCOM- 20211230 LR - 20211230 IS - 1573-4978 (Electronic) IS - 0301-4851 (Linking) VI - 48 IP - 5 DP - 2021 May TI - The correlation of estrogen receptor 1 and progesterone receptor genes polymorphisms with recurrent pregnancy loss in a cohort of Egyptian women. PG - 4413-4420 LID - 10.1007/s11033-021-06459-x [doi] AB - 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. FAU - Refeat, Miral M AU - Refeat MM AUID- ORCID: 0000-0002-0953-1452 AD - Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt. mira_refeat@yahoo.com. FAU - Shalabi, Taghreed AU - Shalabi T AUID- ORCID: 0000-0001-6212-7021 AD - Human Genetics and Genome Research Division, Prenatal and Fetal Medicine Department, National Research Centre, Cairo, Egypt. FAU - El-Bassyouni, Hala T AU - El-Bassyouni HT AUID- ORCID: 0000-0001-9825-1219 AD - Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt. FAU - Shaker, Mai AU - Shaker M AUID- ORCID: 0000-0002-4486-7234 AD - Human Genetics and Genome Research Division, Prenatal and Fetal Medicine Department, National Research Centre, Cairo, Egypt. LA - eng PT - Journal Article DEP - 20210601 PL - Netherlands TA - Mol Biol Rep JT - Molecular biology reports JID - 0403234 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) RN - 0 (Receptors, Progesterone) SB - IM MH - Abortion, Habitual/*epidemiology/*genetics MH - Adolescent MH - Adult MH - Alleles MH - Case-Control Studies MH - Cohort Studies MH - Egypt/epidemiology MH - Estrogen Receptor alpha/*genetics MH - Exons MH - Female MH - Gene Frequency MH - Genetic Association Studies/methods MH - Genetic Predisposition to Disease MH - Humans MH - Polymorphism, Restriction Fragment Length MH - *Polymorphism, Single Nucleotide MH - Pregnancy MH - Receptors, Progesterone/*genetics MH - Young Adult OTO - NOTNLM OT - DNA sequencing OT - Estrogen receptor 1 gene OT - PCR-RFLP OT - Polymorphisms OT - Progesterone receptor gene OT - Recurrent pregnancy loss EDAT- 2021/06/02 06:00 MHDA- 2021/12/31 06:00 CRDT- 2021/06/01 12:27 PHST- 2021/03/01 00:00 [received] PHST- 2021/05/27 00:00 [accepted] PHST- 2021/06/02 06:00 [pubmed] PHST- 2021/12/31 06:00 [medline] PHST- 2021/06/01 12:27 [entrez] AID - 10.1007/s11033-021-06459-x [pii] AID - 10.1007/s11033-021-06459-x [doi] PST - ppublish SO - Mol Biol Rep. 2021 May;48(5):4413-4420. doi: 10.1007/s11033-021-06459-x. Epub 2021 Jun 1.