Related Experiment Videos

Meta-analyses of HFE variants in coronary heart disease

Jiangfang Lian1, Limin Xu, Yi Huang

  • 1Ningbo Medical Center, Lihuili Hospital, Ningbo University, Ningbo, Zhejiang 315041, China.

Gene
|June 25, 2013
PubMed

Insights

Hereditary hemochromatosis gene variants can increase coronary heart disease risk. A meta-analysis found the HFE rs1799945-G allele is linked to a 6% increased risk of coronary heart disease (CHD).

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology

Background:

  • Hereditary hemochromatosis (HH) is linked to increased coronary heart disease (CHD) risk.
  • HFE gene variants are implicated in HH pathogenesis.

Purpose of the Study:

  • To evaluate the association between four HFE gene variants and the risk of developing CHD.
  • To assess the contribution of specific HFE gene variants to CHD risk.

Main Methods:

  • Conducted four meta-analyses on studies examining HFE variants and CHD risk.
  • Performed a systematic literature search across major scientific databases (MEDLINE, EMBASE, Web of Science, CNKI, Wanfang).

Main Results:

  • The HFE rs1799945-G allele showed a significant association with a 6% increased risk of CHD (OR=1.06, P=0.02).
  • No significant association was found between HFE variants rs1800562, rs1800730, and rs9366637 and CHD risk.
  • In Han Chinese, rs1799945 and rs9366637 were not associated with CHD, and rs1800562 and rs1800730 were monomorphic.

Conclusions:

  • A significant association exists between the HFE rs1799945 mutation and CHD risk.
  • This association was observed despite the rarity of the rs1799945 mutation in the Han Chinese population.
Abstract

Keywords:
95% CI95% confidence intervalCHDCoronary heart diseaseHFEHHHWEHardy–Weinberg equilibriumHereditary hemochromatosisORSNPcoronary heart diseasehereditary hemochromatosisodds ratiors1799945single nucleotide polymorphism

Related Concept Videos

Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
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...
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...
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...