Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Seven Genetic Risk Factors Found to be Associated with Common Eye Disorder

Published: Tuesday, March 05, 2013
Last Updated: Tuesday, March 05, 2013
Bookmark and Share
Funded by NIH, report represents the most comprehensive study of AMD genetics.

An international group of researchers has discovered seven new regions of the human genome - called loci - that are associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness.

The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed 12 loci identified in previous studies.

The findings are reported online in the journal Nature Genetics. Supported by the National Eye Institute (NEI), a part of the National Institutes of Health, the study represents the most comprehensive genome-wide analysis of genetic variations associated with AMD.

"This compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration," said NEI Director Paul A. Sieving, M.D., Ph.D.

Sieving continued, "Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will help researchers search for causes of the disease and will inform future development of new diagnostic and treatment strategies."

AMD affects the macula, a region of the retina responsible for central vision. The retina is the layer of light-sensitive tissue in the back of the eye that houses rod and cone photoreceptor cells.

Compared with the rest of the retina, the macula is especially dense with cone photoreceptors and is what humans rely on for tasks that require sharp vision, such as reading, driving, and recognizing faces.

As AMD progresses, such tasks become more difficult and eventually impossible. Some kinds of AMD are treatable if detected early, but no cure exists. An estimated 2 million Americans have AMD.

Scientists have shown that age, diet, and smoking influence a person's risk of developing AMD. Genetics also plays a strong role. AMD often runs in families and is more common among certain ethnicities, such as people of Asian or European descent.

Since the 2005 discovery (http://www.nei.nih.gov/news/statements/genes_amd.asp) that certain variations in the gene for complement factor H - a component of the immune system - are associated with major risk for AMD, research groups around the world have conducted genome-wide association studies to identify other loci that affect AMD risk.

These studies were made possible by tools developed through the Human Genome Project (http://www.genome.gov/10001772), which mapped human genes, and related projects, such the International HapMap Project (http://www.genome.gov/11511175), which identified common patterns of genetic variation within the human genome.

The AMD Gene Consortium combined data from 18 research groups to increase the power of prior analyses. The current analysis identified seven new loci near genes.

As with the previously discovered 12 loci, these seven loci are scattered throughout the genome on many different chromosomes.

"A large number of samples was needed to detect additional genetic variants that have small but significant influences on a person's disease risk," said Hemin Chin, Ph.D., NEI associate director for ophthalmic genetics, who assembled the consortium and helped coordinate the study. "By cataloging genetic variations associated with AMD, scientists are better equipped to target corresponding biological pathways and study how they might interact and change with age or other factors, such as smoking."

The consortium's analysis included data from more than 17,100 people with the most advanced and severe forms of AMD, which were compared to data from more than 60,000 people without AMD.

The 19 loci that were found to be associated with AMD implicate a variety of biological functions, including regulation of the immune system, maintenance of cellular structure, growth and permeability of blood vessels, lipid metabolism, and atherosclerosis.

"Like a map that identifies neighborhoods where the electricity has been knocked out by a storm, the AMD Gene Consortium's study effectively tagged regions within the genome where researchers are most likely to find short circuits in DNA that cause AMD," said Anand Swaroop, Ph.D., chief of the NEI Laboratory of Neurobiology and Neurodegeneration and Repair, and one of the group leaders of this consortium effort.

Swaroop continued, "Once you are in the right neighborhood, going block to block or house to house to look for downed power lines goes much faster. Likewise, by limiting their search to the 19 genomic regions identified by the AMD Gene Consortium, scientists can more efficiently search for specific genes and causative changes that play a role in AMD."

As with other common diseases, such as type 2 diabetes, an individual person's risk for getting AMD is likely determined not by one but many genes.

Further comprehensive DNA analysis of the areas around the 19 loci identified by the AMD Gene Consortium could turn up undiscovered rare genetic variants with a disproportionately large effect on AMD risk.

Discovery of such genes could greatly advance scientists' understanding of AMD pathogenesis and their quest for more effective treatments.


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 3,000+ scientific posters on ePosters
  • More Than 4,500+ 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

Finding Factors That Protect Against Flu
A clinical trial examining the body’s response to seasonal flu suggests new approaches for evaluating the effectiveness of seasonal flu vaccines.
Wednesday, April 27, 2016
Factors Influencing Influenza Vaccine Effectiveness Uncovered
The long-held approach to predicting seasonal influenza vaccine effectiveness may need to be revisited, new research suggests.
Thursday, April 21, 2016
Study Finds Factors That May Influence Influenza Vaccine Effectiveness
Researchers at NIH have suggested that the long-held approach to predicting seasonal influenza vaccine effectiveness may need to be revisited.
Wednesday, April 20, 2016
Serotonin Transporter Structure Revealed
Researchers determined the 3-D structure of the serotonin transporter and visualized how two common antidepressants interact with the protein.
Wednesday, April 20, 2016
Improving Flu Vaccine Effectiveness
NIH study finds factors that may influence influenza vaccine effectiveness.
Wednesday, April 20, 2016
Submissions Open for the Cancer Moonshot Program
NCI opens online platform to submit ideas about research for Cancer Moonshot.
Tuesday, April 19, 2016
Migration Creates Cancer Cell Vulnerabilities
Scientists found that migration can damage cancer cells’ nuclei and DNA, requiring repairs for their survival. The results may open new avenues for targeting metastatic cancer.
Wednesday, April 13, 2016
NIH Sequences Genome of a Fungus
Researchers at the Institute have sequenced genome of human, mouse and rat Pneumocystis that cause life-threatening Pneumonia in immunosuppressed hosts.
Tuesday, April 12, 2016
NIH Awards Grants to Explore Vaccine Adjuvants
NIH awards six grants to explore how combination adjuvants improve vaccines.
Wednesday, April 06, 2016
Children With Cushing Syndrome May Have Higher Suicide Risk
Researchers at NIH have found that depression, anxiety and suicidal thoughts increase after treatment.
Wednesday, March 30, 2016
Experimental Vaccine Protects Against Dengue Virus
An experimental dengue vaccine protected all the volunteers who received it from infection with a live dengue virus.
Wednesday, March 30, 2016
Couples’ Pre-Pregnancy Caffeine Consumption Linked to Miscarriage Risk
Researchers at NIH have found daily multivitamin before and after conception greatly reduces miscarriage risk.
Friday, March 25, 2016
Study Finds Mindfulness Meditation Offers Relief For Low-Back Pain
Researchers at NIH have found that the MBSR and CBT may prove more effective than usual treatment in alleviating chronic low-back pain.
Wednesday, March 23, 2016
3-D Technology Enriches Human Nerve Cells For Transplant to Brain
This platform is expected to make transplantation of neurons a viable treatment for a broad range of human neurodegenerative disorders.
Friday, March 18, 2016
Scientists Discover Non-Opioid Pain Pathway in the Brain
Researchers at NIH have discovered evidence for the existence of a non-opioid process in the brain to reduce pain through mindfulness meditation.
Friday, March 18, 2016
Scientific News
Improving Natural Killer Cancer Therapy
Vanderbilt University researchers discover transcription factor critical for NK cell expansion. Findings could lead to increased therapeutic efficacy.
Molecular Mechanism For Generating Specific Antibody Responses Discovered
Study could spur more ways to treat autoimmune disease, develop accurate vaccines.
Monovar Drills Down Into Cancer Genome
Rice, MD Anderson develop program to ID mutations in single cancer cells.
It’s Now Easier To Go With The Flow
Rice University tool simplifies comparison of flow cytometry data for laboratories.
Autism and Cancer Share a Remarkable Number of Risk Genes
Researchers with the UC Davis Comprehensive Cancer Center, MIND Institute identify more than 40 common genes.
Number Of Known Genetic Risk Factors For Endometrial Cancer Doubled
An international collaboration of researchers has identified five new gene regions that increase a woman’s risk of developing endometrial cancer, one of the most common cancers to affect women, taking the number of known gene regions associated with the disease to nine.
Genetic Variant May Help Explain Why Labradors Are Prone To Obesity
A genetic variation associated with obesity and appetite in Labrador retrievers – the UK and US’s favourite dog breed – has been identified by scientists at the University of Cambridge. The finding may explain why Labrador retrievers are more likely to become obese than dogs of other breeds.
FNIH Launches Project to Evaluate Biomarkers in Cancer Patients
Company has announced that it has launched a new project to evaluate the effectiveness of liquid biopsies as biomarkers in colorectal cancer patients.
Flowering Regulation Mechanism Discovered
Monash researchers have discovered a new mechanism that enables plants to regulate their flowering in response to raised temperatures.
Turning Skin Cells into Heart, Brain Cells
In a major breakthrough, scientists at the Gladstone Institutes transformed skin cells into heart cells and brain cells using a combination of chemicals.
Scroll Up
Scroll Down
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
3,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,500+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!