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

Join For Free

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 2,900+ scientific posters on ePosters
  • More than 4,200+ 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

Tick Genome Reveals Secrets of a Successful Bloodsucker
NIH-funded study could lead to new tick control methods.
Tuesday, February 09, 2016
Genomic Signature Shared by Five Types of Cancer
National Institutes of Health researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
Monday, February 08, 2016
Cancer Drug Target Visualized at Atomic Resolution
New study using cryo-electron microscopy shows how potential drugs could inhibit cancer.
Thursday, February 04, 2016
Genome-Wide Study Yields Markers of Lithium Response
An international consortium of scientists has identified a stretch of chromosome that is associated with responsiveness to the mood-stabilizing medication lithium among patients with bipolar disorder.
Monday, February 01, 2016
Schizophrenia’s Strongest Known Genetic Risk Deconstructed
Suspect gene may trigger runaway synaptic pruning during adolescence – NIH-funded study.
Thursday, January 28, 2016
NIH Genome Sequencing Program Targets the Genomic Bases of Common, Rare Disease
The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
Friday, January 15, 2016
Three Glaucoma-Related Genes Discovered
NIH-funded genetics analysis of glaucoma is largest to date.
Tuesday, January 12, 2016
International Study Reveals New Genetic Clues to AMD
NIH-funded research provides framework for future studies of AMD biology, therapy.
Tuesday, December 22, 2015
Dementia Linked to Deficient DNA Repair
Mutant forms of breast cancer factor 1 (BRCA1) are associated with breast and ovarian cancers but according to new findings, in the brain the normal BRCA1 gene product may also be linked to Alzheimer’s disease.
Tuesday, December 01, 2015
Batten Disease may Benefit from Gene Therapy
NIH-funded animal study suggests one-shot approach to injecting genes.
Friday, November 13, 2015
NIH Researchers Link Single Gene Variation to Obesity
Variation in the BDNF gene may affect brain’s regulation of appetite, study suggests.
Saturday, October 31, 2015
Researchers Identify Potential Alternative to CRISPR-Cas Genome Editing Tools
New Cas enzymes shed light on evolution of CRISPR-Cas systems.
Saturday, October 31, 2015
Potential Alternative to CRISPR-Cas Genome Editing Tools
New Cas enzymes shed light on evolution of CRISPR-Cas systems.
Friday, October 23, 2015
Charting Genetic Variation Across the Globe
An international team of scientists has created the world’s largest catalog of human genetic differences in populations around the globe.
Tuesday, October 20, 2015
Gene Therapy Staves Off Blindness from Retinitis Pigmentosa in Canine Model
NIH-funded study suggests therapeutic window may extend to later-stage disease.
Tuesday, October 20, 2015
Scientific News
Improving Regenerative Medicine
Lab-created stem cells may lack key characteristics, UCLA research finds.
Tick Genome Reveals Secrets of a Successful Bloodsucker
NIH has announced that decipher the genome of the blacklegged tick which could lead to new tick control methods.
"Dark Side" of the Transcriptome
New approach to quantifying gene "read-outs" reveals important variations in protein synthesis and has implications for understanding neurodegenerative diseases.
Individuals' Medical Histories Predicted by their Noncoding Genomes
Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems.
New Source of Mutations in Cancer
Recently, a new mutation signature found in cancer cells was suspected to have been created by a family of enzymes found in human cells called the APOBEC3 family.
Advancing Synthetic Biology
Living systems rely on a dizzying variety of chemical reactions essential to development and survival. Most of these involve a specialized class of protein molecules — the enzymes.
Biosensors on Demand
New strategy results in custom "designer proteins" for sensing a variety of molecules.
Unique Mechanism for a High-Risk Leukemia
Researchers uncovered the aberrant mechanism underlying a notoriously treatment-resistant acute lymphoblastic leukemia subtype; findings offer lessons for understanding all cancers.
Genetically Mapping the Most Lethal E.Coli Strains
New approach could lead to fewer deaths, and new treatments.
Pumpjack" Mechanism for Splitting and Copying DNA
High-resolution structural details of cells' DNA-replicating proteins offer new insight into how these molecular machines function
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
2,900+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,200+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!