Brussels, 11 Apr 2005
A common gene variant has been identified as a risk factor behind a number of common diseases such as cardiovascular disease, rheumatism and multiple sclerosis (MS), scientists from the Karolinska Institute and the Centre for Molecular Medicine (CMM) in Stockholm, Sweden, have revealed.
This discovery, which could affect millions of people, sees the first time that a gene has been identified as linking autoimmune diseases with cardiovascular diseases.
'This gene variant can therefore be one of the single largest genetic causes of complex diseases with inflammatory components,' says Fredrik Piehl, associate professor at the Karolinska Institute and researcher at the CMM. 'There is also a chance that other diseases are also affected by this gene variant. The discovery can now lead to more reliable diagnostics and better treatments for a great number of patients.'
In an article published on the Nature Genetics website and entitled 'MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction', the scientists reveal that the gene variant was first identified in an animal model and later studied in a number of patient groups to determine if there is a link to human diseases. They discovered that people with the variant run a 20 to 40 per cent greater risk of developing rheumatism, MS or a myocardial infarction. The gene variant is also common: an estimated 20 to 25 per cent of the population carry it.
When the gene variant is present in the body, it leads to a reduction in the production of a number of immune defence proteins. Some viruses and bacteria have also been seen to influence the gene in an attempt to evade the immune defence system, explain the scientists - a strategy employed, for example, by the viruses that cause AIDS, herpes and hepatitis.
'The discovery reveals a new area of application for statins, drugs usually taken to lower cholesterol levels. Statins have been shown to reduce activity in this gene and thus produce anti-inflammatory effects. Statins have now been tested on MS patients and have been demonstrated to be beneficial in this very way,' concludes Professor Piehl.
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