Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Keeping an eye on the Japanese genome

16.01.2012
A particular type of age-related macular degeneration in the Japanese population is linked to four regions of the genome

Age-related macular degeneration (AMD) is a common disease that can result in blindness. It is caused by cell death in the eye’s retina, which is partly responsible for transforming visual stimuli into electrical signals to the brain.

Asian populations tend to exhibit a particular type of the disease, called exudative AMD, which includes changes in the blood vessels of the eye. Caucasians, however, tend to exhibit AMD without these vascular abnormalities. Now, a research team led by Michiaki Kubo at the RIKEN Center for Genomic Medicine in Yokohama has identified four genomic areas that increase the risk for exudative AMD in Japanese individuals1.

The researchers searched for genomic regions linked to exudative AMD by investigating single-nucleotide changes in the human genome. They compared the frequencies of 500,000 single-nucleotide changes between individuals with exudative AMD and normal, or control, individuals. Other research groups had previously performed this kind of genome-wide association study (GWAS) in Caucasian populations, but not in the Japanese.

... more about:
»AMD »Caucasians »GWAS »RIKEN »blood vessel »cell death »genomic

Kubo and colleagues began by performing a GWAS on 800 Japanese individuals with exudative AMD and 3,000 Japanese controls; they identified two genomic regions previously linked to AMD in Caucasians. This suggested to the researchers that the mechanisms underlying AMD in both populations are likely to be similar.

In a ‘replication study’ using 700 patients and 15,000 controls, the researchers then carefully examined 77 additional genomic areas that showed potential as candidate exudative AMD-associated regions in their initial GWAS. The replication study yielded two additional genomic regions that were linked to exudative AMD. One of these—on chromosome 4—covered four nearby genes, so the researchers were unable to pinpoint with certainty which of the genes were responsible for the disease risk. However, another region—on chromosome 8—was linked to the gene called TNFRSF10A, which encodes a receptor expressed in the eye that modulates inflammation and cell death.

The variant of the gene that Kubo and colleagues linked to exudative AMD seemed to regulate the expression of the receptor. “We are next planning to investigate exactly how the signaling pathway initiated by this receptor would affect the development of exudative AMD,” explain Kubo and Satoshi Arakawa, the study’s first author.

The identification of these genomic regions that are linked to exudative AMD could aid in the development of new therapies. “Our results will also help in the construction of risk prediction models for exudative AMD,” say Kubo and Arakawa.

The corresponding author for this highlight is based at the Laboratory for Genotyping Development, RIKEN Center for Genomic Medicine

gro-pr | Research asia research news
Further information:
http://www.riken.jp
http://www.researchsea.com

Further reports about: AMD Caucasians GWAS RIKEN blood vessel cell death genomic

More articles from Life Sciences:

nachricht Scientists spin artificial silk from whey protein
24.01.2017 | Deutsches Elektronen-Synchrotron DESY

nachricht Choreographing the microRNA-target dance
24.01.2017 | UT Southwestern Medical Center

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Scientists spin artificial silk from whey protein

X-ray study throws light on key process for production

A Swedish-German team of researchers has cleared up a key process for the artificial production of silk. With the help of the intense X-rays from DESY's...

Im Focus: Quantum optical sensor for the first time tested in space – with a laser system from Berlin

For the first time ever, a cloud of ultra-cold atoms has been successfully created in space on board of a sounding rocket. The MAIUS mission demonstrates that quantum optical sensors can be operated even in harsh environments like space – a prerequi-site for finding answers to the most challenging questions of fundamental physics and an important innovation driver for everyday applications.

According to Albert Einstein's Equivalence Principle, all bodies are accelerated at the same rate by the Earth's gravity, regardless of their properties. This...

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

Breaking the optical bandwidth record of stable pulsed lasers

24.01.2017 | Physics and Astronomy

Choreographing the microRNA-target dance

24.01.2017 | Life Sciences

Spanish scientists create a 3-D bioprinter to print human skin

24.01.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>