Related Experiment Video

Updated: Apr 29, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

10.5K

Association of ESR1 gene polymorphism with preterm rupture of fetal membranes

N E Kan1, V L Tyutyunnik, A E Donnikov

  • 1V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, The Ministry of Health of the Russian Federation, Moscow, Russia, kan-med@mail.ru.

Bulletin of Experimental Biology and Medicine
|May 15, 2014
PubMed

Insights

Fetal genetic factors influence preterm rupture of membranes. Specific estrogen receptor alpha (ESR1) gene variations, like the CG haplotype, increase risk, while the TA haplotype offers protection.

Area of Science:

  • Genetics
  • Obstetrics
  • Molecular Biology

Background:

  • Preterm rupture of membranes (PROM) is a significant obstetric complication.
  • The genetic predisposition to PROM is not fully understood.
  • Estrogen receptor alpha (ESR1) gene polymorphisms are potential candidates for influencing PROM risk.

Purpose of the Study:

  • To investigate the association between ESR1 gene polymorphisms and PROM.
  • To identify specific fetal genotypes and haplotypes as risk or protective factors for PROM.

Main Methods:

  • Genotyping of 179 mothers and newborns for two ESR1 gene polymorphic loci: -397T > C (rs2234693) and -351A > G (rs9340799).
  • Analysis of genotype and haplotype frequencies in cases with and without PROM.
  • Combined analysis of specific genotypes (-351A/A and -397C/C) as markers.

Main Results:

  • The CG haplotype in the fetus was identified as a risk factor for PROM.
  • The TA haplotype in the fetus was identified as a protective factor against PROM.
  • The fetal genotype -351A/A is a marker for the protective TA haplotype, and -397C/C is a marker for the risk CG haplotype.

Conclusions:

  • Fetal genotype plays a crucial role in the genetic predisposition to PROM.
  • Specific ESR1 haplotypes (CG and TA) and associated genotypes are significant risk and protective factors for PROM.
  • These findings highlight the importance of fetal genetic factors in PROM etiology.

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.5K
High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.4K

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
12.4K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
157
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
20.5K