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 A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht On the way to developing a new active ingredient against chronic infections
18.08.2017 | Deutsches Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

A Map of the Cell’s Power Station

18.08.2017 | Life Sciences

Engineering team images tiny quasicrystals as they form

18.08.2017 | Physics and Astronomy

Researchers printed graphene-like materials with inkjet

18.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>