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MS associated with 29 new and 23 previously known gene variants – Aug 2011

Following press release is translated from German, and is followed by abstract

Multiple sclerosis is a disease of the immune system

Press Release Master of Business Administration (FH) Caroline Bahnemann
Office of Communications and Press
University of Medicine of the Johannes Gutenberg University Mainz; 08/10/2011 19:00
International consortium of researchers found 29 new MS gene variants - involved researchers from Mainz

Scientists have identified 29 new genetic variants associated with disease multiple sclerosis. Many of the genes that were identified in the study belong to the immune system - so this is crucial in the development of the disease. Today the work of the international research consortium led by the Universities of Cambridge and Oxford in the journal Nature, was published. It is the largest ever genetic study of multiple sclerosis.

More than 250 researchers in 23 research groups from 15 countries - including a group of researchers of the Department of Neurology, University Medical Center - were involved.

Multiple sclerosis is one of the most common diseases of the nervous system in young adults - in Germany alone there are currently more than 120,000 people affected. In the disease, the protective sheath (myelin sheath), with the nerve fibers in the brain and spinal cord are encased is damaged, so that excitation signals can not be forwarded. Similarly, the nerve fibers themselves are damaged. The consequences are, depending on which nerves are affected, among other difficulties in walking, numbness and blurred vision. The results published today underscore the central role of the immune system in the destruction of nerve cells and help to understand how exactly looks like the immune attack on brain and spinal cord.

The study examined the scientists who are "Consortium Wellcome Trust Case Control" in the "International Multiple Sclerosis Genetics Consortium" and together, the genetic material of 9772 persons with multiple sclerosis and of 17 376 healthy control subjects.

The international research team was able to confirm 23 already known genetic associations and to identify 29 more new genetic variants associated with the emergence of multiple sclerosis. Many of these genes play a fundamental role in the work of the immune system, particularly in the function of certain immune cells called T cells, and the activation of certain neurotransmitters, the interleukins. T-cells are a type of white blood cells: they are responsible for mediating an immune response against foreign substances, but also play a role in autoimmune diseases. It is interesting that one third of the newly identified genes are also associated with other autoimmune diseases such as Crohn's disease or type 1 diabetes appears to play a role. This could mean that expire in various autoimmune diseases, the same basic mechanisms, the researchers said.

In addition, previous studies an association between vitamin D deficiency and an increased risk of multiple sclerosis had suggested. Besides the many identified genes that play a direct role in the immune system, the researchers could also account for two genes involved in the metabolism of vitamin D are involved. This would be a possible link between genetic and environmental risk factors of multiple sclerosis.

Alastair Compston of Cambridge University said: "Our research ended the long-standing debate about what the first step in the complex development of multiple sclerosis is. It is now clear that multiple sclerosis is primarily an immunological disease, because the associated with the disease characteristics are in the majority immunolgisch relevant genes. "" Our results of the value of large genetic studies highlight the identification of key principles that widespread human diseases underlying "said Peter Donnelly of the" Wellcome Trust Case Control Consortium, "University of Oxford. "Such studies are not a large international research network - making the data a very large number of patients are available. - Simply not possible"

"After many years of small genetic studies of multiple sclerosis have now succeeded in an international approach, the entire genome - our genetic information - study on risk factors, which are involved in the development of the disease," said the neurologist Professor Frauke Zipp , who led the research team at University Medical Center. "Most of the factors come from our defense system, the immune system. Thus we now know that it is indeed an autoimmune disease and that we must continue working to develop anti-inflammatory therapies. "

Professor Frauke Zipp is a member of Disease-related competence network multiple sclerosis (KKNMS), which supported the study as part of its sponsorship by the Federal Ministry for Education and Research. Furthermore, the study by the British "Wellcome Trust" and the German share of the Federal Ministry for Education and Research has been funded.

Univ.-Prof. Dr. Frauke Zipp
Director of the Department of Neurology
University of Medicine of the Johannes Gutenberg University Mainz
Telephone 06131 17-7156, Fax 06131 17-5697
E-mail: zipp at uni-mainz.de, Homepage: http://www.unimedizin-mainz.de/neurologie

Dr. Renée Dillinger tab, Office of Public Affairs University Medical Center, Telephone 06131 17-7424, Fax 06131 17-3496 E-mail: pr at unimedizin-mainz.de

About the University of Medicine of the Johannes Gutenberg University Mainz

The University Hospital of the Johannes Gutenberg University Mainz is the only facility of its kind in Rhineland-Palatinate. More than 60 clinics, institutes and departments are part of the University Medical Center. Inextricably linked to healthcare, research and teaching. Around 3,500 students of medicine and dentistry are continuously formed in Mainz. In addition to the research area immunology (FZI) and the Center for Thrombosis and Haemostasis (CTH), the Translational Neuroscience Research Program (FTN, www.ftn.uni-mainz.de;) in the Rhine Main Neuroscience Network (rmn2, www.rmn2.de) essential basis for the neuro-immunological research in Mainz. http://www.unimedizin-mainz.de

The disease-related competence network multiple sclerosis (KKNMS) is one of 21 nationwide competence networks in medicine, sponsored by the Federal Ministry for Education and Research. They all pursue the goal of researchers on specific diseases and to bring together interdisciplinary nationwide to improve the exchange between research and patient care.

Currently includes three research groups at the KKNMS: CONTROLMS, and UNDERSTANDMS CHILDRENMS. The office is located at the Klinikum rechts der Isar, Technical University of Munich. http://www.kompetenznetz-multiplesklerose.de


Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

The International Multiple Sclerosis Genetics Consortium & The Wellcome Trust Case Control Consortium 2
Nature. 476, 214–219, (11 August 2011), doi:10.1038/nature10251

Received 04 February 2011, Accepted 02 June 2011, Published online 10 August 2011

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability1. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals2, 3, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk4. Modestly powered genome-wide association studies (GWAS)5, 6, 7, 8, 9, 10 have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility11. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.


See also VitaminDWiki

The articles in both MS and Genetics are:

The articles in both MS and Vitamin D Receptor are:

The articles in both MS and Vitamin D Binding Protein:

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