Zeroing in on heart disease: Innovative strategy pinpoints genes underlying cardiovascular disease risk

February 28, 2013

Studies screening the genome of hundreds of thousands of individuals (known as Genome-wide association studies or GWAS) have linked more than 100 regions in the genome to the risk of developing cardiovascular disease. Researchers from the European Molecular Biology Laboratory (EMBL) and the University of Heidelberg, through the joint Molecular Medicine Partnership Unit (MMPU), are taking these results one step further by pinpointing the exact genes that could have a role in the onset of the disease. Their findings are published today in the PLoS Genetics.

The scientists used a technology called "RNA interference" that can selectively decrease the level of expression of targeted genes. By observing what changes, if any, this decrease causes in cells, researchers can identify the function of the genes and, on a larger scale, objectively test the function of many genes in parallel.

in the blood are one of the main risk factors for cardiovascular disease. They are controlled by the amount of cholesterol that cells can take in - thus removing it from the blood - and metabolise. The researchers used RNA interference to test the function of each of the genes within 56 regions previously identified by GWAS as being linked with cardiovascular disease. They selectively decreased their action and measured what, if any, changes this induced in cholesterol metabolism. From this they could deduce which of the genes are most likely to be involved in the onset of the disease.

"This is the first wide–scale study that follows up on GWAS. It has proven its potential by narrowing down a large list of to the few with an important function that we can now focus on in future in-depth studies," explains Rainer Pepperkok at EMBL, who co-led the study with Heiko Runz at the University of Heidelberg.

"In principle, our approach can be applied to any disease that has an observable effect on cells", adds Heiko Runz. "The genes identified here may further our understanding of the mechanisms leading to cardiovascular disease and allow us to improve its prediction and diagnosis".

Explore further: Mapping genes: Study finds new risk factors for neurodegenerative diseases

Related Stories

Mapping genes: Study finds new risk factors for neurodegenerative diseases

June 7, 2012
Using a new and powerful approach to understand the origins of neurodegenerative disorders such as Alzheimer's disease, researchers at Mayo Clinic in Florida are building the case that these diseases are primarily caused ...

Finding the silent killer -- a biomarker test for atherosclerosis

January 13, 2012
Furring of the arteries, atherosclerosis, is a leading cause of death across the world. Atherosclerosis leads to peripheral arterial disease, coronary heart disease, stroke and heart attacks. However, atherosclerosis is a ...

Recommended for you

Maternal diet may program child for disease risk, but better nutrition later can change that

October 20, 2017
Research has shown that a mother's diet during pregnancy, particularly one that is high-fat, may program her baby for future risk of certain diseases such as diabetes. A new study from nutrition researchers at the University ...

New gene editing approach for alpha-1 antitrypsin deficiency shows promise

October 20, 2017
A new study by scientists at UMass Medical School shows that using a technique called "nuclease-free" gene editing to correct cells with the mutation that causes a rare liver disease leads to repopulation of the diseased ...

Researchers drill down into gene behind frontotemporal lobar degeneration

October 19, 2017
Seven years ago, Penn Medicine researchers showed that mutations in the TMEM106B gene significantly increased a person's risk of frontotemporal lobar degeneration (FTLD), the second most common cause of dementia in those ...

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

An architect gene is involved in the assimilation of breast milk

October 17, 2017
A family of "architect" genes called Hox coordinates the formation of organs and limbs during embryonic life. Geneticists from the University of Geneva (UNIGE) and the Swiss Federal Institute of Technology in Lausanne (EPFL), ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.