Related Experiment Video

Updated: Jun 4, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.1K

SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with

Yihan Wang1,2, Chuang Li2, Wenshu Zhao2

  • 1School of The Third Clinical Medical College, Capital Medical University, Beijing, People's Republic of China.

BMC Cardiovascular Disorders
|December 21, 2024
PubMed

Insights

Familial hypercholesterolemia (FH) affects 8.75% of Chinese coronary heart disease patients. The SYNTAX I score is an independent risk factor for FH, highlighting the importance of genetic testing in CHD patients.

Area of Science:

  • Cardiovascular Genetics
  • Atherosclerosis Research

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder increasing coronary heart disease (CHD) risk.
  • Prevalence of FH in Chinese CHD patients and its relation to atherosclerosis severity is largely unknown.

Purpose of the Study:

  • To determine FH prevalence in Chinese CHD patients using genetic testing.
  • To explore the association between the SYNTAX I score and FH genotype.

Main Methods:

  • Genotyping for monogenic and polygenic FH genes in 400 CHD patients.
  • Retrospective analysis of clinical data and SYNTAX I scores.

Main Results:

  • Genetically confirmed FH prevalence was 8.75% in the CHD cohort.
  • FH patients showed higher cLDL-C, SYNTAX I scores, and triple vessel lesions.
  • cLDL-C and SYNTAX I scores were independent risk factors for FH.
  • Polygenic FH had lower cLDL-C but comparable atherosclerosis severity to monogenic FH.

Conclusions:

  • The SYNTAX I score is an independent risk factor for identifying FH.
  • Polygenic FH should be considered in Chinese CHD patients with suspected FH.
Abstract

Keywords:
Familial hypercholesterolemiaMonogenicPolygenicPrevalenceSYNTAX I score

More Related Videos

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring08:45

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

13.3K
Signal Acquisition, Score Interpretation, and Economics of a Non-Invasive Point-of-Care Test for Coronary Artery Disease06:16

Signal Acquisition, Score Interpretation, and Economics of a Non-Invasive Point-of-Care Test for Coronary Artery Disease

Published on: August 9, 2024

356

Related Concept Videos

Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
1
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.4K
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
501
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
531
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,...
14.0K