Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
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 3,500+ scientific posters on ePosters
  • More than 5,000+ 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

“Sixth Sense” More Than a Feeling
NIH study of rare genetic disorder reveals importance of touch and body awareness.
Monday, September 26, 2016
The Genetics of Blood Pressure
Researchers have identifed areas of the genome associated with blood-pressure including 17 previously unknown loci.
Wednesday, September 21, 2016
Catalogue of Human Genetic Diversity Expands
The largest data set of human exomes to date has been assembled to better study seqence variants and their consequences.
Wednesday, September 07, 2016
$12.4M Awarded to Neural Regeneration Projects
The National Institutes of Health will fund six projects to identify biological factors that influence neural regeneration.
Friday, September 02, 2016
New Inflammatory Disease Discovered
NIH researchers have discovered a rare and potentially deadly disease - otulipenia - the mostly affects children.
Tuesday, August 23, 2016
Public Support for National Study
Survey shows the majority of respondents support or show willingness for national precision medicine study.
Thursday, August 18, 2016
Schizophrenia, Autism Share Genetic Causes
Monkey brain developmental atlas pinpoints when, where genes activate.
Tuesday, August 16, 2016
How Breast Cancers Resist Chemotherapy
Researchers discovered an unexpected way that breast cancers cells with mutant BRCA1 or BRCA2 genes acquire drug resistance and evade chemotherapies.
Wednesday, August 10, 2016
Mutations Linked to Immunotherapy Resistance
Researchers uncover mutations in tumors of three patients with advanced melanoma that allowed the tumors to become resistant to the immune checkpoint inhibitor pembrolizumab (Keytruda®).
Tuesday, August 09, 2016
Genetic Cause of Rare Pediatric Neuropathy Identified
NIH mouse study identifies the mechanism responsible for a rare form of pediatric neuropathy.
Thursday, August 04, 2016
Depression Genetics Insight from Crowd-Sourced Data
Genome sites liked to depression have been discovered from data shared by people who had purchased their genetic profiles online.
Tuesday, August 02, 2016
Uncovering a New Principle in Chemotherapy Resistance in Breast Cancer
The NIH study has revealed an entirely unexpected process for acquiring drug resistance that bypasses the need to re-establish DNA damage repair in breast cancers that have mutant BRCA1 or BRCA2 genes.
Thursday, July 21, 2016
NIH Funds Million-Person Medicine Study
NIH announces $55million in awards to build foundations for ambitious Cohort Program that aims to engage 1 million participants in lifestyle, environments and genetics research.
Friday, July 08, 2016
Largest-Ever Study of Breast Cancer Genetics in Black Women
The study will identify genetic factors that may underlie breast cancer disparities.
Thursday, July 07, 2016
Significant Expansion Of Data Available In The Genomic Data Commons
Cancer genomic profile information from 18,000 adult cancer patients will be added to the database.
Wednesday, June 29, 2016
Scientific News
Faecal Bacteria Linked to Body Fat
Researchers at King’s College London have found a new link between the diversity of bacteria in human poo – known as the human faecal microbiome - and levels of abdominal body fat.
Scientists Find Lethal Vulnerability in Treatment-Resistant Lung Cancer
The study describes how the drug Selinexor killed lung cancer cells and shrank tumors in mice when used against cancers driven by the aggressive and difficult-to-treat KRAS cancer gene.
How Baby’s Genes Influence Birth Weight And Later Life Disease
The large-scale study could help to target new ways of preventing and treating these diseases.
Genes Underlying Dogs’ Social Ability Revealed
The social ability of dogs is affected by genes that also seem to influence human behaviour, according to a new study from Linköping University in Sweden.
‘Cellbots’ Chase Down Cancer, Deliver Drugs Directly to Tumors
Programmable T cells shown to be versatile, precise, and powerful in lab studies.
Modified Yeast Shows Plant Response to Key Hormone
Researchers have developed a toolkit based on modified yeast to determine plant responses to auxin.
ReadCoor Launched to Commercialize 3D Sequencing Tech
ReadCoor will leverage the Wyss Institute’s method for simultaneously sequencing and mapping RNAs within cells and tissues to advance development of diagnostics.
NCI Collaborates with Multiple Myeloma Research Foundation
NCI collaborates with MMRF to incorporate genomic and clinical data into NCI Genomic Data Commons database.
Epigenetic Clock Predicts Life Expectancy
New research finds 5 percent of population ages faster, faces shorter lifespan.
Regulatory RNA Essential to DNA Damage Response
Researchers discover a tumour suppressor is stabilized by an RNA molecule, which helps cells respond to DNA damage.
Skyscraper Banner

SELECTBIO Market Reports
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
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,000+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!