Swedish team find gene with link to major diseases

Apr 12 2005

In an exciting new discovery, which could affect millions of people, scientists from the Karolinska Institute and the Centre for Molecular Medicine (CMM) in Stockholm, Sweden, have identified a gene which links autoimmune diseases with cardiovascular diseases.

The 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).

Fredrik Piehl, associate professor at the Karolinska Institute and researcher at the CMM, says the gene variant could be one of the single largest genetic causes of complex diseases with inflammatory components and there is a possibility that other diseases are also affected by it. He says the discovery could lead to more reliable diagnostics and better treatments for a great number of patients.

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 common with an estimated 20 to 25 per cent of the population carrying it.

The gene variant when it is present in the body, leads to a reduction in the production of a number of immune defence proteins. The scientists explain that some viruses and bacteria have also been seen to influence the gene in an attempt to evade the immune defence system, a strategy employed by the viruses that cause AIDS, herpes and hepatitis.

Interestingly, the discovery has revealed a new area of application for statins which have been shown to reduce activity in this gene and thus produce anti-inflammatory effects. Statins are drugs usually taken to lower cholesterol levels. Statins have now been tested on MS patients and have been demonstrated to be beneficial in this very way, concludes Professor Piehl.

The article is published on the Nature Genetics website.