The study charts which of the human being’s some 20,000 are the strongest risk factors for SLE (systemic lupus erythematosus). The analysis was performed with half a million genetic markers, so-called SNP markers, that are evenly distributed across the whole genome.
Two research teams from Uppsala University, Ann-Christine Syvänen’s and Lars Rönnblom’s groups at the Department of Medical Sciences, were part of the group behind the study, which was led by scientists from the U.S. The study included 800 Swedish SLE patients from rheumatology clinics at Akademiska Hospital in Uppsala, Karolinska Hospital in Stockholm, and the university hospitals in Umeå and Lund.
“The study is especially interesting since SLE is seen as a model disease for autoimmune disorders, where the body’s immune defense attacks the patient’s own tissue,” says Lars Rönnblom, professor of rheumatology.
In SLE most body organs can be damaged by the autoimmune process. From studies of twins we know that SLE has strong genetic connections where the interaction with environmental factors can lead to the genesis of the disease. With the findings of this new study, researchers can now move on to functional and clinical analyses. Functional analyses can figure out the molecular mechanisms in SLE, which ultimately can lead to better drugs for the disease.
“Since SLE is characterized by many different pathological symptoms, these genetic findings can also lead to genetic tests in the future to make it possible to classify the disease in each individual more exactly, thereby providing support for treatment decisions,” says Ann-Christine Syvänen, professor of molecular medicine.
The new study identifies two previously unknown genes, BLK and ITGAM, with functions in the immune system’s cells, as risk factors for SLE. Moreover, the study identifies two previously known genes from the interferon system, IRF5 and STAT4, and the well-known HLA system as the three strongest risk factors for SLE. These same Uppsala scientists originally identified the IRF5 gene as a risk factor, in 2005.
The genetic analyses of the Swedish patients were done at the SNP genotyping laboratory at Akademiska University Hospital in Uppsala. It became possible only in 2007 to perform genetic analyses on a scale comprising the entire genome, thanks to extremely rapid technological development.
“The advantage of genetic studies across the entire genome is that they unconditionally lead to the identification of all the genes that contribute to the genetic risk for SLE,” says Ann-Christine Syvänen.
Read the article: http://content.nejm.org/cgi/content/abstract/NEJMoa0707865?resourcetype=HWCIT
One more study on SLE was published today, also including Uppsala researchers: http://info.uu.se/press.nsf/pm/several.genes.id3BB.html
For more information, please contact Ann-Christine Syvänen, phone: +46 (0)18-611 29 59, Ann-Christine.Syvanen@medsci.uu.se, or Lars Rönnblom, +46 (0)18- 611 53 98, Lars.Rönnblom@medsci.uu.se
Anneli Waara | alfa
Cryo-electron microscopy achieves unprecedented resolution using new computational methods
24.03.2017 | DOE/Lawrence Berkeley National Laboratory
How cheetahs stay fit and healthy
24.03.2017 | Forschungsverbund Berlin e.V.
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...
20.03.2017 | Event News
14.03.2017 | Event News
07.03.2017 | Event News
24.03.2017 | Materials Sciences
24.03.2017 | Physics and Astronomy
24.03.2017 | Physics and Astronomy