Genetic Association of Variants in Estrogen Receptor Alpha (ESR1) and Expression Profiling With Recurrent Pregnancy Loss (RPL) In Kashmiri Population of North India

Zargar MH, Khan N, Bhat GR, Ahmad F, Ahmed R R, Godha M, Baba SM and Masoodi SR

Published on: 2024-01-06

Abstract

Background: Pregnancy loss refers to the fetus loss before it has reached its viability. On the other hand, 1% of fertile couples have recurrent pregnancy loss (RPL), a disease characterized by the recurring loss of two or more successive miscarriages before the 22nd week of gestation. Since, RPL is heterogenic in nature, its etiology is heavily influenced by genetics. A wide range of genetic changes can significantly influence how RPL develops and progresses.

Objective: To examine the genetic association of ESR genetic variation and mRNA expression in RPL in Kashmiri population.

Methods: In this study, analyses of ESR genetic variation and expression analysis in RPL cases and controls were genotyped by PCR-RFLP and Real-Time PCR.

Results:  In this study it was observed that the CT+TT genotype of (-397C/T) genetic variation is a risk factor in contributing towards RPL, whereas other genetic variation (−351A/G) failed the association with RPL in ethnic Kashmiri population. It was also found that the ESR1-αmRNA expression was significantly decreased with down regulated 4.369- fold change in RPL PBMCs compared to those of healthy controls.

Conclusion: Our data indicates that the ESR genetic variation can act as predictive or prognostic biomarker, the present study also bring forth an important evidence on the genetic etiology of RPL in North Indian populations and further explores the findings on the role of ESR1in RPL risk. This study provides the comphrensive view about the RPL scenario in Jammu and Kashmir, North Indian population and it can be a hallmark of cancer if verified on a very large sample size (cohort).