Navigation Links
7 genetic risk factors found to be associated with common eye disorder

A professor from Case Western Reserve University School of Medicine is one of the lead authors of a study identifying seven new regions of the human genome that are associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness among older adults.

The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed the existence of 12 other regions called loci that had been identified in previous studies. The authors report their findings 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 work represents a big step forward toward solving why some people get AMD, while others do not," said Sudha Iyengar, PhD, professor of epidemiology and biostatistics at Case Western Reserve School of Medicine and a member of the consortium's senior executive committee. "This disease is not caused by a single change in the DNA, but represents many events that accumulate over the lifetime of a patient. Identification of these genes provides molecular windows into the AMD disease process."

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; humans rely on the macula 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, but no cure exists. An estimated 2 million Americans suffer from AMD.

Since the 2005 discovery that certain variations in the gene for complement factor Ha component of the immune systemare 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, which mapped human genes, and related projects, such the International HapMap Project, which identified common patterns of genetic variation within the human genome.

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.

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.

"This compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration," said NEI director Paul A. Sieving, MD, PhD. "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."


Contact: Jessica Studeny
Case Western Reserve University

Related medicine news :

1. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
2. 2 genetic deletions in human genome linked to the development of aggressive prostate cancer
3. Head, Body Lice Are Genetically Very Similar
4. Certain Genetic Regions May Be Tied to Osteoporosis
5. Study of half siblings provides genetic clues to autism
6. Genetic variants, tobacco exposure and lung cancer risk
7. Research Gets Closer to Genetic Roots of Glaucoma
8. Moffitt researcher awarded GE grant to develop tool to detect breast cancer metastasis genetic risks
9. Genetically modified T cell therapy shown to be safe, lasting in decade-long study of HIV patients
10. Some women may be genetically predisposed to smoking-related hot flashes
11. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
Post Your Comments:
(Date:12/1/2015)... ... 01, 2015 , ... Florida Hospital Tampa is the first health care provider in ... of Florida. , vBloc® Therapy is a vagal blocking therapy, delivered via the Maestro® System, ... mass index (BMI) of at least 40 to 45 kg, or a BMI of at ...
(Date:12/1/2015)... ... ... Dr. Paul Vitenas, one of the top cosmetic surgeons in Texas ... Best Single Physician Practice in the nation. Dr. Vitenas and his practice were named ... industry publication. , Dr. Vitenas said he was very honored to receive such ...
(Date:12/1/2015)... ... December 01, 2015 , ... CloudLIMS today ... Golden Bridge Business Awards under the New Products and Services category for its ... sample management software that helps labs organize data and track samples ...
(Date:12/1/2015)... PITTSBURGH, PA (PRWEB) , ... December 01, 2015 ... ... or imaging facilities, radiographic technicians must mark the film for accurate interpretation by ... keep track of. Fortunately, an inventor from Sacramento, Calif., has found a way ...
(Date:12/1/2015)... , ... December 01, 2015 , ... ... announced it has been awarded a fixed price per sprint agile development contract ... valued at $34 million over five years, provides software engineering, infrastructure, as well ...
Breaking Medicine News(10 mins):
(Date:12/1/2015)... 2015 Pharma Tech Outlook recently conducted a ... Data Management Solution Providers - 2015 .  After careful ... CEOs, CIOs, VCs, analysts, and the Pharma Tech Outlook ... top 10 clinical data management solution providers (check out ... and 36 respectively). --> ...
(Date:12/1/2015)... Assurex Health, Inc. today announced a ... providers an expanded range of options in helping ... depression, anxiety, bipolar disorder, posttraumatic stress disorder (PTSD), ... i .   --> i ... of two new drug classes, 17 FDA-approved medications ...
(Date:12/1/2015)...  AccuTEC Blades, a leader in precision blade ... brand identity program. The new logo underscores AccuTEC,s ... products where "the edge makes all the difference."   ... Serving manufacturers and distributors of medical, food processing, ... product lines include those acquired when AccuTEC  purchased ...
Breaking Medicine Technology: