Researchers use new genetic mapping technique to identify two genes that can cause vision loss in seniors

September 16, 2013 by Wendy Wendland-Bowyer
Rare gene variant linked to macular degeneration
An international team of researchers has identified a gene mutation linked to age-related macular degeneration (AMD). Credit: Washington University School of Medicine

Researchers at the University of Michigan pinpointed two interacting genes that, when defective, can greatly increase the risk of macular degeneration, the leading cause of vision problems in the elderly.

Goncalo Abecasis, a University of Michigan professor and the lead author of the report, said much of the discovery's success is from a new method of gene mapping that uses ancestry-matched controls from existing gene databases – something that had never been done before.

"We showed this new approach could work," said Abecasis from the U-M School of Public Health. The findings will be posted online Sept. 15 in the journal Nature Genetics.

The new approach searched already sequenced individuals with similar ancestry to cases U-M researchers were studying. Matches were then placed in the control group, increasing the ability to pinpoint genetic variants and ultimately leading to the discovery.

Abecasis said he hopes researchers will take the new finding he and his colleagues gleaned and use it to develop new treatments or a cure for macular degeneration. The statistical methods for matching ancestry used in this study could be duplicated in of other diseases, potentially opening up new realms of discovery.

Age-related macular degeneration is a leading cause of vision loss for seniors. It is caused by the deterioration of a small, central part of the retina. It affects the ability to read, drive and carry on day-to-day activities. Currently there is no cure.

The University of Michigan has long been conducting into the causes of macular degeneration and has a large database of patient volunteers recruited at the Kellogg Eye Center.

This study involved 2,335 cases and 789 controls, with most samples originating from the Kellogg Eye Center. The research was supported in part by grants from the National Institutes of Health (National Eye Institute, National Human Genome Research Institute).

Explore further: Research points to promising treatment for macular degeneration

More information: Identification of a rare coding variant in complement 3 associated with age-related macular degeneration, DOI: 10.1038/ng.2758

Related Stories

Human eye movements for vision are remarkably adaptable

August 15, 2013

When something gets in the way of our ability to see, we quickly pick up a new way to look, in much the same way that we would learn to ride a bike, according to a new study published in the journal Current Biology on August ...

Study shows daily aspirin intake can lead to blindness

October 5, 2011

(Medical Xpress) -- A new study published in Ophthalmology reveals that while taking a daily aspirin may reduce the risks of heart disease and stroke, a disturbing side effect has also been noted to increase the risk of developing ...

Recommended for you

Epigenetic factors linked to obesity-related disease

January 17, 2017

Obesity has been linked to "letter" changes at many different sites in the genome, yet these differences do not fully explain the variation in people's body mass index (BMI) or why some overweight people develop health complications ...

Are you ready to explore baby's genome?

January 17, 2017

When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests. Most of the time, you never hear about the results ...

Study applies game theory to genomic privacy

January 17, 2017

It comes down to privacy—biomedical research can't proceed without human genomic data sharing, and genomic data sharing can't proceed without some reasonable level of assurance that de-identified data from patients and ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.