Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Researchers Find Gene Variant Linked to Aortic Valve Disease

Published: Thursday, February 07, 2013
Last Updated: Thursday, February 07, 2013
Bookmark and Share
NIH-funded consortium finds connection between lipoprotein(a) and valve calcification.

A newly identified genetic variant doubles the risk of calcium buildup in the heart’s aortic valve. Calcium buildup is the most common cause of aortic stenosis, a narrowing of the aortic valve that can lead to heart failure, stroke, and sudden cardiac death.

An international genomics team called CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) found the variant in the gene for lipoprotein(a), a cholesterol-rich particle that circulates in the blood. CHARGE oversees genomic studies of five large study populations in the United States and Europe, including the Framingham Heart Study (FHS), which is a part of the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health.

The findings will be published in the Feb. 7 issue of The New England Journal of Medicine.

“No medications tested to date have shown an ability to prevent or even slow progression of aortic stenosis, and treatments are limited beyond the major step of replacing the aortic valve,” said study co-author Christopher O’Donnell, M.D., M.P.H., senior director for genome research at the NHLBI and associate director of the FHS. “By identifying for the first time a common genetic link to aortic stenosis, we might be able to open up new therapeutic options.”

The CHARGE researchers conducted a genome-wide analysis of 2.5 million known genetic variants in a group of nearly 7,000 white participants. The analysis identified a variant in the lipoprotein(a), or Lp(a), gene that was highly correlated with calcification of the aortic valve, as measured by computed tomography (CT) scanning. Follow-up analysis in more than 6,000 additional participants, including Hispanics, African-Americans, and Chinese-Americans, confirmed this correlation. The variant was present in about 7 percent of the study population and the people who carry it generally had higher amounts of Lp(a) circulating in their blood. The function of Lp(a) is unknown, but it is associated with an elevated risk of heart disease.

Another independent analysis carried out by CHARGE followed participants in Sweden and Denmark, and found that people with the Lp(a) variant had higher risks of clinical heart valve disease and of needing valve replacement surgery.

“What makes these findings provocative is that we linked the genetic variant with a physiological change in lipoprotein levels, disease precursor in the form of calcium buildup, and fully diagnosed aortic valve disease, across multiple ethnicities,” O’Donnell said. “The study suggests a causal relation between Lp(a) and aortic valve disease, but further work will be needed to see whether medications that lower Lp(a) levels can lower the risk or slow the development of valve disease.”

In addition to the FHS, this work included data from the NHLBI’s Multi-Ethnic Study of Atherosclerosis, the Age Gene/Environment Susceptibility Study, the Heinz Nixdorf Recall Study, the Malmo Diet and Cancer Study, and the Copenhagen City Heart Study.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

NIH Grants Seek Best Ways To Combine Genomic Information and EHRs
Researchers seek to better understand genomic basis of disease, provide tailored care to patients.
Friday, September 04, 2015
Cellular Factors that Shape the 3D Landscape of the Genome Identified
Researchers have identified 50 cellular factors required for the proper 3D positioning of genes by using novel large-scale imaging technology.
Tuesday, August 18, 2015
Nuclear Process in the Brain That May Affect Disease Uncovered
Scientists have shown that the passage of molecules through the nucleus of a star-shaped brain cell, called an astrocyte, may play a critical role in health and disease.
Tuesday, August 18, 2015
Tell-tale Biomarker Detects Early Breast Cancer in NIH-funded Study
The study published online in the issue of Nature Communications.
Thursday, August 13, 2015
Scientists Adopt New Strategy to Find Huntington’s Disease Therapies
Large, international NIH-supported study uses precision medicine to tackle neurological disorders.
Tuesday, August 11, 2015
Study Shows Promise of Precision Medicine for Most Common Type of Lymphoma
The study appeared online July 20, 2015, in Nature Medicine.
Tuesday, July 21, 2015
NIH Study Identifies Gene Variant Linked to Compulsive Drinking
Mice carrying the Met68BDNF gene variant would consume excessive amounts of alcohol.
Tuesday, July 21, 2015
In Blinding Eye Disease, Trash-Collecting Cells Go Awry, Accelerate Damage
NIH research points to microglia as potential therapeutic target in retinitis pigmentosa.
Friday, July 03, 2015
Potential Therapeutic for Blinding Eye Disease
NIH research points to microglia as potential therapeutic target in retinitis pigmentosa.
Thursday, July 02, 2015
NCI-MATCH Trial will Link Targeted Cancer Drugs to Gene Abnormalities
Precision medicine trial will open to patient enrollment in July.
Tuesday, June 09, 2015
A New Role for Zebrafish: Larger Scale Gene Function Studies
A relatively new method of targeting specific DNA sequences in zebrafish could dramatically accelerate the discovery of gene function and the identification of disease genes in humans.
Monday, June 08, 2015
NIH Researchers Pilot Predictive Medicine by Studying Healthy People’s DNA
New study sequence the genomes of healthy participants to find “putative,” or presumed, mutations.
Friday, June 05, 2015
Linking Targeted Cancer Drugs to Gene Abnormalities
Investigators at the NIH have announced a series of clinical trials that will study drugs or drug combinations that target specific genetic mutations.
Wednesday, June 03, 2015
Scientists Create Mice with a Major Genetic Cause of ALS and FTD
NIH-funded study provides new platform for testing treatments for several neurodegenerative disorders.
Friday, May 22, 2015
Mice With a Major Genetic Cause of ALS and FTD Created
NIH-funded study provides new platform for testing treatments for several neurodegenerative disorders.
Thursday, May 21, 2015
Scientific News
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Searching Big Data Faster
Theoretical analysis could expand applications of accelerated searching in biology, other fields.
Growing Hepatitis C in the Lab
Recent discovery allows study of naturally occurring forms of hepatitis C virus (HCV) in the lab.
Inciting an Immune Attack on Cancer Cells
A new minimally invasive vaccine that combines cancer cells and immune-enhancing factors could be used clinically to launch a destructive attack on tumors.
Reprogramming Cancer Cells
Researchers on Mayo Clinic’s Florida campus have discovered a way to potentially reprogram cancer cells back to normalcy.
Genetic Overlapping in Multiple Autoimmune Diseases May Suggest Common Therapies
CHOP genomics expert leads analysis of genetic architecture, with eye on repurposing existing drugs.
Surprising Mechanism Behind Antibiotic-Resistant Bacteria Uncovered
Now, scientists at TSRI have discovered that the important human pathogen Staphylococcus aureus, develops resistance to this drug by “switching on” a previously uncharacterized set of genes.
How DNA ‘Proofreader’ Proteins Pick and Edit Their Reading Material
Researchers from North Carolina State University and the University of North Carolina at Chapel Hill have discovered how two important proofreader proteins know where to look for errors during DNA replication and how they work together to signal the body’s repair mechanism.
Fat in the Family?
Study could lead to therapeutics that boost metabolism.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!