Related Experiment Video

Updated: May 5, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

23.8K

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

Benjamin Meder1, Frank Rühle, Tanja Weis

  • 1Department of Internal Medicine III, University Heidelberg, Im Neuenheimer Feld 410, D-69120 Heidelberg, Germany.

European Heart Journal
|July 16, 2013
PubMed

Insights

Common genetic variants contribute to dilated cardiomyopathy (DCM). This study identified a new genetic risk locus on chromosome 6p21, highlighting the role of inflammatory processes in DCM pathogenesis.

Area of Science:

  • Genetics
  • Cardiology
  • Immunology

Background:

  • Dilated cardiomyopathy (DCM) is a major cause of heart failure and cardiac transplantation.
  • Monogenic and extrinsic causes explain only a subset of DCM cases, suggesting a role for common genetic variants.

Purpose of the Study:

  • To identify novel genetic risk loci for DCM using a large-scale genome-wide association study.
  • To investigate the contribution of common genetic variants to DCM pathogenesis, onset, and progression.

Main Methods:

  • A three-staged case-control genome-wide association study design.
  • Analysis of over 4100 DCM cases and 7600 controls.
  • Replication in an independent cohort and analysis of expression quantitative trait loci (eQTL).

Main Results:

  • Identification and replication of a novel genetic susceptibility locus on chromosome 6p21.
  • The most significant association signal was rs9262636 (P = 4.90 × 10(-9)) in HCG22.
  • rs9262636 was identified as an eQTL for genes encoding major histocompatibility complex (MHC) heavy chain receptors.

Conclusions:

  • The study reveals a novel genetic locus associated with DCM.
  • This finding underscores the role of genetically driven inflammatory processes in idiopathic DCM pathogenesis.
Abstract

Keywords:
DCMDilated cardiomyopathyGenome-wide association study

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K

Related Concept Videos

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,...
14.8K
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...
12.7K
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...
129
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
798
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...
810
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
957