Related Experiment Video
Updated: Mar 9, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
4.3K
Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy
Siobhan Simpson1, Mark D Dunning1, Serena Brownlie1
1Faculty of Medicine and Health Sciences, School of Veterinary Medicine and Science, The University of Nottingham, Sutton Bonington Campus, Loughborough LE12 5RD, UK.
Biomed Research International
|January 11, 2017
Summary
Dilated cardiomyopathy (DCM) in Irish Wolfhounds is influenced by multiple genetic factors. Combining three specific genetic loci identified a genotype significantly increasing DCM risk in this breed.
Area of Science:
- Veterinary Genetics
- Canine Cardiology
- Complex Trait Genetics
Background:
- Dilated cardiomyopathy (DCM) is a major cause of death in Irish Wolfhounds (IWH).
- While human DCM has many identified genes, few overlap with canine DCM, and existing canine loci don't explain all cases.
- Previous research suggests multiple genetic loci may interact to influence DCM development.
Purpose of the Study:
- To investigate the individual and combined associations of previously identified DCM-related genetic loci in a new cohort of IWH.
- To determine if specific genotypes or combinations of genotypes increase DCM risk in IWH.
Main Methods:
- Genotyping of loci previously associated with DCM in IWH.
- Association analysis of individual loci and combinations of loci with DCM status.
- Comparison of genotype-specific risk with population risk.
Main Results:
- Several loci showed individual significant associations with DCM.
- No single locus or pair of loci conferred a significantly higher risk than the population average.
- A specific genotype combining three loci significantly increased the risk of developing DCM.
Conclusions:
- DCM risk in IWH is likely influenced by the cooperative effect of multiple genetic factors rather than single genes.
- Identifying complex genotype interactions is crucial for understanding DCM heritability in IWH.
- This study highlights the importance of multi-locus analysis for canine DCM genetics.
Related Concept Videos
01:30Cardiomyopathy II: Dilated Cardiomyopathy
689
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,...
689
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
593
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...
593
01:43Incomplete Dominance
31.6K
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.
31.6K
01:11Genome-wide Association Studies-GWAS
16.3K
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...
GWAS does not require the identification of the target gene involved in...
16.3K
02:59Animal Mitochondrial Genetics
9.8K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.8K
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
699
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...
699