The SNPs are located in the LOXL1 gene on chromosome 15, and confer respectively 26-fold and 8-fold increases in risk of exfoliation glaucoma compared to the low-risk versions of the same markers. Approximately 25% of those in the Icelandic and Swedish study cohorts were found to have two copies of the highest risk variant, putting them at approximately 100 times the likelihood of developing exfoliation glaucoma (XFG) as are individuals with the low risk version of the same SNP. The LOXL1 protein encoded by the gene is involved in the formation of elastin fibers which, when they accumulate in the eye, cause XFG.
The paper, entitled “Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma,” is published today in the online edition of Science, and will appear in an upcoming print edition of the journal.
“This discovery is remarkable and important because the genetics has led us directly to what appears to be the sole cause of a devastating common disease. The risk conferred by these variants is such that it accounts for virtually all cases of exfoliation glaucoma, meaning that if we can neutralize the impact of these variants we might eliminate the disease. The LOXL1 protein made by this gene appears to play a role in the accumulation of microfibullar deposits that causes XFG, providing a promising mechanism to target for developing therapy. We plan to conduct additional studies to examine how we can take advantage of this finding to begin drug discovery,” said Kari Stefansson, CEO of deCODE.
The deCODE team discovered the variants by first analyzing more than 300,000 SNPs in Icelandic and Swedish glaucoma patients and control subjects, utilizing the Illumina Hap300 SNP chip. One SNP was strongly linked to exfoliation syndrome, in which fibrous deposits begin to accumulate in the front of the eye but have not yet begun to impair vision. Analysis of additional SNPs in public databases and which were not included on the chip led to the identification of the two risk variants – allele G of rs1048661 and allele G of rs3825942 – strongly linked to XFG in Icelandic and Swedish case-control cohorts. A combined total of some 16,000 patients and control subjects participated in the study.
Glaucoma is one of the most common causes of blindness worldwide. There are various types of glaucoma, all of which lead to damage in the optic nerve and progressive loss of vision. Exfoliation glaucoma is caused by the buildup of fibrous deposits on the surfaces on the front of the eye. Between 10-20% of people over the age of 60 are believed to have some degree of exfoliation syndrome, and perhaps more than half of these individuals will go on to develop exfoliation glaucoma. The progression of glaucoma can be slowed using various medications that promote the drainage of fluids from the eye and reduce pressure on the optic nerve. However, exfoliation glaucoma is often resistant to drug treatment. Little has been understood to date about the pathophysiology of the disease and there are no treatments targeting the underlying causes of the condition.
Berglind R. Olafsdottir | EurekAlert!
Antibiotic resistances spread faster than so far thought
18.02.2019 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt
The Lypla1 Gene Impacts Obesity in a Sex-Specific Manner
18.02.2019 | Deutsches Zentrum für Diabetesforschung
Up to now, OLEDs have been used exclusively as a novel lighting technology for use in luminaires and lamps. However, flexible organic technology can offer much more: as an active lighting surface, it can be combined with a wide variety of materials, not just to modify but to revolutionize the functionality and design of countless existing products. To exemplify this, the Fraunhofer FEP together with the company EMDE development of light GmbH will be presenting hybrid flexible OLEDs integrated into textile designs within the EU-funded project PI-SCALE for the first time at LOPEC (March 19-21, 2019 in Munich, Germany) as examples of some of the many possible applications.
The Fraunhofer FEP, a provider of research and development services in the field of organic electronics, has long been involved in the development of...
For the first time, an international team of scientists based in Regensburg, Germany, has recorded the orbitals of single molecules in different charge states in a novel type of microscopy. The research findings are published under the title “Mapping orbital changes upon electron transfer with tunneling microscopy on insulators” in the prestigious journal “Nature”.
The building blocks of matter surrounding us are atoms and molecules. The properties of that matter, however, are often not set by these building blocks...
Scientists at the University of Konstanz identify fierce competition between the human immune system and bacterial pathogens
Cell biologists from the University of Konstanz shed light on a recent evolutionary process in the human immune system and publish their findings in the...
Laser physicists have taken snapshots of carbon molecules C₆₀ showing how they transform in intense infrared light
When carbon molecules C₆₀ are exposed to an intense infrared light, they change their ball-like structure to a more elongated version. This has now been...
The so-called Abelian sandpile model has been studied by scientists for more than 30 years to better understand a physical phenomenon called self-organized...
11.02.2019 | Event News
30.01.2019 | Event News
16.01.2019 | Event News
19.02.2019 | Information Technology
19.02.2019 | Health and Medicine
19.02.2019 | Trade Fair News