Swedish team find gene with link to major diseases

May 26, 2017

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.

UK dietary guidelines in relation to CVD date back to the 1994 report published by the Government??s Committee on Medical Aspects of Nutrition (COMA) and largely focus on reduction of total fat and saturates intake as a means of modifying blood cholesterol levels. The emerging evidence that has been reviewed by the Task Force supports the need to re-examine these dietary guidelines. The Task Force??s analysis of the interaction of diet with emerging risk factors suggests that other risk factors (in addition to the classical ones) are also influenced by diet, in particular the type of dietary fat, and that greater emphasis on dietary fat quality (the overall fatty acid profile of the diet) is now justified, in the context of a varied diet, rich in fruit, vegetables and whole grain cereals. This means that for the majority of the population, moderation in fat intake still needs to be advised, but there needs to be more emphasis on partial replacement of saturates with unsaturated fatty acids (mono- and polyunsaturates). In particular, average intakes of long chain n-3 fatty acids (as found in oily fish) are well below recommendations, as highlighted recently by the Food Standards Agency.

The report also emphasises the importance of a physically active lifestyle, which is linked to improving some risk factors for CVD, and avoidance of obesity. Other risk factors that have been reviewed by the Task Force include subtle alterations in types of fat other than cholesterol in the blood stream, factors associated with inflammation and with blood clotting, lowered resistance to oxidative stress, abnormal insulin responses, raised blood homocysteine and impaired functioning of blood vessels. The evidence concerning the influence of experiences in early life, even before birth, on later disease risk has also been considered.