New study links four genes to MS

June 22, 2016

Researchers have identified four new risk genes that are altered in German patients with multiple sclerosis. The results point to a possible involvement of cellular mechanisms in the development of the disease, through which environmental influences affect gene regulation.

The scientists at the Technical University of Munich and the Max Planck Institute of Psychiatry identified four new risk genes in the German population and confirmed the existence of a dozen previously identified genes. Instead of examining a large number of international samples from different ethnic groups, the scientists focused on a single population of genetically homogeneous German patients. This allowed them to identify risk genes that had so far not been discovered in international studies. With just under 5,000 patients and a sample of over 10,000 healthy people, this is the largest genetic MS study carried out in a single country to date.

"All four genes are important for regulatory processes within immune cells. Interestingly, they are linked to epigenetic mechanisms. These are bookmarks in the genome that are placed by environmental influences and control the expression of genes," said Dr. Bernhard Hemmer, one of the study’s authors.

The researchers checked whether the risk genes are significantly linked with MS only in the German population or if they replicate in Sardinians, a genetically distinct population with low genetic heterogeneity. This independent Sardinian group consisted of 2903 cases and 3323 controls. Two of the variants replicated within the Sardinian data set; two more showed the same direction of effect.

Epigenetic signals mark DNA sequences in human cells and are critical for regulating which of the approximately 20,000 genes inside a cell get activated. These signals are programmed by environmental influences throughout a person's lifetime. One of the genes identified, named SHMT1, plays a central role in DNA methylation, one of the most important epigenetic regulatory mechanisms. The newly identified regions in the human genome associated with the disease improve our model of how MS develops.

The study has been published in the current edition of the journalScience Advances.

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