Featured Research

from universities, journals, and other organizations

Additional genes associated with age-related macular degeneration identified

Date:
April 19, 2010
Source:
NIH/National Eye Institute
Summary:
A large genetic study of age-related macular degeneration has identified three new genes associated with this blinding eye disease -- two involved in the cholesterol pathway.

A large genetic study of age-related macular degeneration (AMD) has identified three new genes associated with this blinding eye disease -- two involved in the cholesterol pathway. Results of this large-scale collaborative study, supported by the National Eye Institute (NEI), part of the National Institutes of Health, were published online April 12 in the Proceedings of the National Academy of Sciences.

AMD is a leading cause of visual impairment and blindness in older Americans. Researchers have previously discovered genes that account for a significant portion of AMD risk through genome-wide association studies (GWAS), which scan the entire DNA of individuals to uncover genetic variations related to certain diseases.

The recent large GWAS was led by Anand Swaroop, Ph.D., currently chief of the NEI Neurobiology-Neurodegeneration and Repair Laboratory, and Goncalo Abecasis, D.Phil., professor of biostatistics at the University of Michigan, Ann Arbor.

The strongest AMD genetic association found in the study was in a region on chromosome 22, near a gene called metalloproteinase inhibitor 3 (TIMP3). Mutations in the TIMP3 gene were previously found to cause Sorsby's fundus dystrophy, a rare inherited early-onset form of macular degeneration. Although further research is needed, it is likely that the genetic region pinpointed influences the expression of TIMP3.

The study has also shed light on a new biological pathway for AMD disease development, by uncovering two genes associated with AMD risk in the high-density lipoprotein (HDL) cholesterol pathway: human hepatic lipase (LIPC) and cholesterol ester transfer protein (CETP). Scientists identified two additional genes, lipoprotein lipase (LPL) and ATP binding cassette transporter 1 (ABCA1), that may be involved in the cholesterol pathway as well, but more research is needed to confirm these findings.

HDLs are among a family of lipoproteins that transport essential fats, such as cholesterol, through the bloodstream. It is believed that early stages of AMD are affected by accumulation of oxidation products of cholesterol and other lipids in the retinal pigment epithelium, a layer of cells in the back of the eye. However, the relationship between HDL cholesterol levels in the blood and AMD is still unclear.

"We suspect that these genetic variations found in the cholesterol pathway impact the retina differently from the circulatory system, so cholesterol levels in the blood may not provide meaningful information about AMD risk," Swaroop explained. "Nonetheless, we have uncovered a major biochemical pathway that may be a target for future AMD treatments."


Story Source:

The above story is based on materials provided by NIH/National Eye Institute. Note: Materials may be edited for content and length.


Journal Reference:

  1. Wei Chen et al. Genetic variants near TIMP3 and high-density lipoprotein%u2013associated loci influence susceptibility to age-related macular degeneration. PNAS, April 12, 2010 DOI: 10.1073/pnas.0912702107

Cite This Page:

NIH/National Eye Institute. "Additional genes associated with age-related macular degeneration identified." ScienceDaily. ScienceDaily, 19 April 2010. <www.sciencedaily.com/releases/2010/04/100412151819.htm>.
NIH/National Eye Institute. (2010, April 19). Additional genes associated with age-related macular degeneration identified. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2010/04/100412151819.htm
NIH/National Eye Institute. "Additional genes associated with age-related macular degeneration identified." ScienceDaily. www.sciencedaily.com/releases/2010/04/100412151819.htm (accessed July 25, 2014).

Share This




More Health & Medicine News

Friday, July 25, 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:
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