Related Experiment Video

Updated: Feb 24, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

12.4K

Correlation between NFATC1 gene polymorphisms and congenital heart disease in children

C-L Li1, L Niu, M-Y Fu

  • 1Department of Cardiology, Xuzhou Children's Hospital, Xuzhou, Jiangsu, China. anxinjian001@163.com.

European Review for Medical and Pharmacological Sciences
|August 23, 2017
PubMed

Insights

This study found a link between NFATC1 gene variations and congenital heart disease (CHD) in children. Specific genotypes and allele frequencies correlate with the incidence and severity of CHD.

Area of Science:

  • Genetics
  • Pediatric Cardiology
  • Molecular Biology

Background:

  • Congenital heart disease (CHD) is a significant cause of infant mortality.
  • The genetic factors contributing to CHD require further elucidation.
  • NFATC1 gene is a potential candidate involved in cardiac development.

Purpose of the Study:

  • To investigate the association between NFATC1 gene polymorphism and the risk of CHD in pediatric patients.
  • To determine if specific NFATC1 genotypes or allele frequencies are linked to CHD incidence.
  • To explore the correlation between NFATC1 gene variations and the severity of congenital heart defects.

Main Methods:

  • Case-control study involving 85 children with CHD and 92 healthy controls.
  • Genotyping of the NFATC1 gene using Restriction Fragment Length Polymorphism (RFLP) analysis.
  • Statistical analysis to compare genotype and allele frequencies between groups.

Main Results:

  • No significant difference in overall NFATC1 genotype and allele distribution between CHD patients and controls.
  • Significant differences observed in AA and GG genotypes, and allele frequencies between pathological samples and controls.
  • Higher ratio of homozygotes (AA, GG) observed in children with severe congenital heart disease.

Conclusions:

  • NFATC1 gene variations are correlated with the incidence of congenital heart disease in children.
  • Specific NFATC1 genotypes and allele frequencies are associated with the occurrence of pediatric CHD.
  • The study suggests a role for NFATC1 gene polymorphism in the pathogenesis of congenital heart disease.
Abstract

More Related Videos

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

7.4K
In utero Measurement of Heart Rate in Mouse by Noninvasive M-mode Echocardiography08:01

In utero Measurement of Heart Rate in Mouse by Noninvasive M-mode Echocardiography

Published on: November 22, 2013

12.0K

Related Concept Videos

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...
26
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: 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...
29
Single Nucleotide Polymorphisms-SNPs01:05

Single 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,...
18.7K
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...
30
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
553
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.5K