Researchers Discover Gene Believed Responsible for Age-Related Macular Degeneration

March 10, 2005

Researchers from Boston University School of Medicine (BUSM), UT Southwestern Medical Center at Dallas, and SEQUENOM, Inc., report the discovery of a genetic variation, that is the strongest known risk factor associated with age-related macular degeneration (AMD). Published in the March 10, 2005, online issue of the journal Science, the study entitled “Complement Factor H Polymorphism and Age-Related Macular Degeneration,” details the discovery of the gene that may account for approximately fifty percent of the cases of AMD in the population.

“Considering that AMD is such a common and complex condition with multiple risk factors, we did not expect that we would identify a gene that is responsible for almost half of the cases,” said author Lindsay A. Farrer, PhD, chief of the genetics program at BUSM, and a professor of medicine, neurology, genetics and genomics, epidemiology and biostatistics at BUSM.

The biological basis of this disorder, which is the most common cause of blindness in the elderly, is unclear. However, it was strongly suspected that genetics did play a role. The researchers tested single nucleotide polymorphisms (SNPs) for association of AMD in a region of 14 million base pairs on chromosome 1q25-31 where a gene for AMD had been previously localized in families with multiple persons affected with AMD.

Using two independent case-control populations, the researchers found that possession of at least one copy of histidine at position 402 of complement factor H (CFH) increased the risk of AMD almost three-fold.

“Given the rapid aging of the population, an estimated 3 million people will have complications of AMD by the year 2020. We hope our findings will create new avenues for developing preventative and therapeutic strategies for AMD,” added co-author and retina specialist Albert O. Edwards, MD, PhD, currently the President of the Institute for Retina Research at the Presbyterian Hospital of Dallas, Texas. Edwards conducted his research while on faculty at UT Southwestern.

“We are pleased to be part of this important collaboration with BU School of Medicine and UT Southwestern, and that the use of our MassARRAY System helped contribute to the discovery of the genetic variations associated with AMD,” said Charles Cantor, PhD, SEQUENOMS’s chief scientific officer.

This research was funded by UT Southwestern grants from the National Eye Institute and Research to Prevent Blindness.

About Boston University School of Medicine
Boston University School of Medicine is a leading academic and research institution, with an enrollment of nearly 630 students and nearly 2,400 full-time, part-time and volunteer faculty members. The School of Medicine is nationally known for its programs in Alzheimer’s disease, arthritis, cardiovascular disease, cancer, human genetics, pulmonary diseases and dermatology, among others. The School is affiliated with Boston Medical Center, its principal teaching hospital, and Boston Veterans Administration Medical Center. Along with Boston Medical Center, the School of Medicine is a partner in Boston HealthNet, a consumer-driven urban health network.

Source: Boston University


Rank not rated yet
Tags

Relevant PhysicsForums posts

More news stories

A frank discussion of the power law and linking correlation to causation

(PhysOrg.com) -- Michael Stumpf a mathematics professor at Imperial College in London, and Mason Porter a lecturer at Oxford have teamed together to write and publish a perspective piece in Science regarding the in ...

Other Sciences / Mathematics

created 16 hours ago | popularity 5 / 5 (3) | comments 6 | with audio podcast report

Employers feel no love for unscrupulous practice of 'service sweethearting'

A new study led by two Florida State University marketing professors finds that some frontline service employees who are rewarded for hikes in customer loyalty and satisfaction also may engage in "service ...

Other Sciences / Economics & Business

created 10 hours ago | popularity 4 / 5 (1) | comments 4

The question of life in the ancient world

There’s a general feeling that we don’t get the Greeks – ancient or modern. Many, including heads of state like Angela Merkel, visibly shake their head in exasperation, rightly or wrongly, at ...

Other Sciences / Archaeology & Fossils

created 16 hours ago | popularity 1.3 / 5 (3) | comments 4

Sonic Cradle lands spot in TED exhibition

A Simon Fraser University graduate student project that melds music, meditation and modern technology has landed a rare spot as an exhibit at TEDActive 2012 in Palm Springs, California this month.

Other Sciences / Other

created 12 hours ago | popularity not rated yet | comments 0

Chilean miners' rescue capsule on show in London

The capsule used to rescue Chilean miners trapped underground for two months goes on display Saturday at the Science Museum in London -- the first time it has been seen in Europe.

Other Sciences / Other

created 15 hours ago | popularity not rated yet | comments 0


Google users warned of threat to smartphone wallets

Users of Google smartphone wallets were being warned on Friday that there is a way to crack pass codes intended to thwart thieves from going on illicit shopping sprees.

Anonymous knocks CIA website offline (Update)

The website of the Central Intelligence Agency was inaccessible on Friday after the hacker group Anonymous claimed to have knocked it offline.

New error-correcting codes guarantee the fastest possible rate of data transmission

Error-correcting codes are one of the triumphs of the digital age. They’re a way of encoding information so that it can be transmitted across a communication channel — such as an optical fiber o ...

Humans may have helped the decline of African rainforests 3000 years ago

(PhysOrg.com) -- Large areas of rainforests in Central Africa mysteriously disappeared over three thousand years ago, to be replaced by savannas. The prevailing theory has been that the cause was a change ...

New power source discovered

(PhysOrg.com) -- Researchers at the Massachusetts Institute of Technology (MIT) and RMIT University have made a breakthrough in energy storage and power generation.

Complex wiring of the nervous system may rely on a just a handful of genes and proteins

Researchers at the Salk Institute have discovered a startling feature of early brain development that helps to explain how complex neuron wiring patterns are programmed using just a handful of critical genes. ...