Related Experiment Video
Updated: Jun 12, 2026
05:16
Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage
Published on: August 4, 2021
Recurrent pregnancy loss and apolipoprotein E gene polymorphisms: a case–control study from north India
Meenal Agarwal1, Farah Parveen, Rehan Mujeeb Faridi
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, UP, India.
Summary
Apolipoprotein E (APO-E) gene polymorphisms are not associated with recurrent pregnancy loss (RPL) in North Indian women. This study found no significant differences in APO-E genotypes or allele frequencies between RPL cases and controls.
Area of Science:
- Genetics
- Reproductive Medicine
- Human Molecular Genetics
Background:
- Recurrent pregnancy loss (RPL) affects a significant number of women, and its etiology remains incompletely understood.
- The role of genetic factors, specifically apolipoprotein E (APO-E) gene polymorphisms, in RPL is a subject of ongoing research.
- Previous studies have suggested a potential link between APO-E genotypes and RPL, but findings are not consistent across populations.
Purpose of the Study:
- To investigate the association between apolipoprotein E (APO-E) gene polymorphisms and unexplained recurrent pregnancy loss (RPL) in a North Indian cohort.
- To compare APO-E genotype and allele frequencies in women with RPL versus ethnically matched controls.
Main Methods:
- A retrospective case–control study was conducted involving 200 women with RPL and 200 healthy controls.
- APO-E genotypes were determined using restriction fragment length polymorphism (RFLP) analysis of PCR-amplified DNA.
- Genotypes were analyzed for amino acid positions 112 and 158, and allele frequencies (E2, E3, E4) were compared between cases and controls.
Main Results:
- No significant differences were observed in the distribution of APO-E genotypes between RPL cases and controls.
- Allele frequencies for E2, E3, and E4 showed no statistically significant variation between the study groups (P > 0.05 for all alleles).
- The odds ratios (OR) and 95% confidence intervals (CI) did not indicate an increased risk of RPL associated with any specific APO-E allele.
Conclusions:
- The findings do not support an association between APO-E gene polymorphisms and recurrent pregnancy loss in the studied North Indian population.
- This study underscores the importance of robust study design, including adequate case characterization, appropriate controls, and sufficient sample size, when investigating genetic associations.
- Further research with larger, diverse cohorts may be warranted to definitively elucidate the genetic underpinnings of RPL.
More Related Videos
Related Concept Videos
01:11Pharmacogenetics 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...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:28Infertility in Females
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of endometrial...
Endometriosis, a condition characterized by abnormal growth of endometrial...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:21Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
01:29Pharmacogenetic 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...