Featured Research

from universities, journals, and other organizations

Genetic risk factors for common eye disorder come into focus

Date:
March 3, 2013
Source:
Vanderbilt University Medical Center
Summary:
Scientists have identified seven new genetic regions associated with age-related macular degeneration (AMD), a common cause of blindness in older individuals. The findings could point to new biological pathways and therapeutic targets for AMD.

An international group of investigators has identified seven new genetic regions associated with age-related macular degeneration (AMD), a common cause of blindness in older individuals. The findings, reported online March 3 in Nature Genetics, could point to new biological pathways and therapeutic targets for AMD.

The AMD Gene Consortium, a network of 18 research groups supported by the National Eye Institute, also confirmed 12 genetic loci identified in previous studies. The study represents the most comprehensive genome-wide analysis of genetic variations associated with AMD.

The consortium's efforts have now explained up to 65 percent of the genetics of AMD, said Jonathan Haines, Ph.D., director of the Vanderbilt Center for Human Genetics Research.

In addition to genetic causes, which may account for about half of all cases of AMD, risk factors include age, smoking, high blood pressure, obesity and diet.

"We're getting closer and closer to understanding the full list of risk factors for AMD," said Haines, one of the lead authors of the study and principal investigator of the coordinating center for the consortium.

AMD is a progressive neurodegenerative disease that kills photoreceptor cells in the macula -- the region of the retina responsible for sharp, detailed central vision. As AMD advances, it robs individuals of the central vision necessary for everyday activities like reading, driving, watching television and identifying faces. About 2 million people in the United States have advanced AMD, according to the National Eye Institute.

Haines and others discovered the first genetic risk factor for AMD in 2005 -- a gene called Complement Factor H, which is involved in inflammatory signaling pathways. Since then, researchers have identified a number of other genetic loci associated with AMD, but the studies usually involved small numbers of individuals.

"It was very clear that if we wanted to make real progress in understanding the genetics of AMD, we needed to pull all of these various datasets together -- which is what the AMD Gene Consortium has done," Haines said.

A strength of the AMD Gene Consortium, Haines noted, is the participation of groups from all over the world. The consortium combined existing genome-wide association scans (GWAS) and performed additional genotyping studies. The researchers examined genetic data from more than 17,000 patients with advanced AMD and more than 60,000 people without AMD.

The loci they identified include genes involved in immune system signaling, lipid metabolism, remodeling of the matrix that surrounds cells and blood vessel development. The researchers are continuing to study the genetic regions, Haines said.

"This paper is a global population look at genetic loci, and now we're drilling down to the details and discovering rare variants in genes that may suggest how they participate in causing AMD," Haines said.

The hope, Haines said, is that a full understanding of genetic and environmental risk factors will allow the computation of an AMD risk score. Several companies already offer tests that generate risk scores, but they are based on older information.

"If we can identify the people who are at greatly increased risk for AMD, perhaps we can begin to do clinical trials to test treatments that may prevent the disease," Haines said.

Current treatments for AMD help stabilize the disease, but they do not reverse its course. New treatments based on the genetic findings are in development, Haines said.


Story Source:

The above story is based on materials provided by Vanderbilt University Medical Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. Lars G Fritsche et al. Seven new loci associated with age-related macular degeneration. Nature Genetics, 03 March 2013 DOI: 10.1038/ng.2578

Cite This Page:

Vanderbilt University Medical Center. "Genetic risk factors for common eye disorder come into focus." ScienceDaily. ScienceDaily, 3 March 2013. <www.sciencedaily.com/releases/2013/03/130303155107.htm>.
Vanderbilt University Medical Center. (2013, March 3). Genetic risk factors for common eye disorder come into focus. ScienceDaily. Retrieved July 26, 2014 from www.sciencedaily.com/releases/2013/03/130303155107.htm
Vanderbilt University Medical Center. "Genetic risk factors for common eye disorder come into focus." ScienceDaily. www.sciencedaily.com/releases/2013/03/130303155107.htm (accessed July 26, 2014).

Share This




More Health & Medicine News

Saturday, July 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
Too Few Teens Receiving HPV Vaccination, CDC Says

Too Few Teens Receiving HPV Vaccination, CDC Says

Newsy (July 24, 2014) The Centers for Disease Control and Prevention is blaming doctors for the low number of children being vaccinated for HPV. Video provided by Newsy
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

More Coverage


Seven Genetic Risk Factors Found to Be Associated With Common Eye Disorder

Mar. 3, 2013 Scientists have discovered seven new regions of the human genome -- called loci -- that are associated with increased risk of age-related macular degeneration, a leading cause of ... read more
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins