Related Experiment Video
Updated: Jul 4, 2026
06:21
Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
ACE and MTHFR gene polymorphisms in unexplained recurrent pregnancy loss
Venkatesan Vettriselvi1, Krishnaswami Vijayalakshmi, Solomon F D Paul
1Department of Human Genetics, Sri Ramachandra University, Porur, Chennai, Tamil Nadu, India.
The Journal of Obstetrics and Gynaecology Research
|July 1, 2008
Summary
This study found no link between specific gene variations in angiotensin converting enzyme (ACE) and methylene tetrahydrofolate reductase (MTHFR) and recurrent pregnancy loss in South Indian women. Further research into other gene variations is needed to understand RPL risk factors.
Area of Science:
- Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- Recurrent pregnancy loss (RPL) is a complex condition with multifactorial causes.
- Genetic factors, including polymorphisms in key enzymes, are investigated as potential contributors to RPL.
- Angiotensin converting enzyme (ACE) and methylene tetrahydrofolate reductase (MTHFR) are crucial in various physiological processes relevant to pregnancy.
Purpose of the Study:
- To investigate the association between specific polymorphisms in the ACE (Insertion/Deletion) and MTHFR (C677T) genes and the risk of recurrent pregnancy loss.
- To evaluate these genetic variations in a South Indian population cohort.
Main Methods:
- A case-control study was conducted with 104 women diagnosed with RPL and 120 healthy controls.
- DNA was isolated from peripheral blood leukocytes for genetic analysis.
- Genotyping for ACE Insertion/Deletion and MTHFR C677T polymorphisms was performed using Polymerase Chain Reaction (PCR) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) techniques.
Main Results:
- No statistically significant differences in the distribution of ACE Insertion/Deletion genotypes were found between women with RPL and controls.
- Similarly, no significant difference in the distribution of MTHFR C677T genotypes was observed between the case and control groups.
- Combined analysis of ACE and MTHFR genotypes did not reveal any association with recurrent pregnancy loss.
Conclusions:
- The study concludes that the investigated MTHFR C677T and ACE I/D polymorphisms are not associated with recurrent pregnancy loss in the studied South Indian population.
- The findings suggest that these specific genetic variations may not be significant risk factors for RPL in this demographic.
- However, the possibility of other polymorphisms within the ACE and MTHFR genes, or other genetic factors, contributing to RPL risk cannot be ruled out and warrants further investigation.
Related Concept Videos
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...
01:27Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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...
01:27Pharmacogenetics of Drug Metabolism: Overview
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
01:28Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
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...