Sammanfattning
Background. Multiple sclerosis (MS) is a demyelinating, inflammatory disease of the central nervous system which affects young adults with a relapsing or progressive disease course. The etiology of the disease is unknown, but both environmental and genetic factors contribute to the risk of developing MS.
Material and methods. We give an overview of new knowledge of the genetic risk factors for MS, based on our own work as well as on literature in this field.
Results. Through genome-wide association studies and subsequent replication studies a series of novel MS genes have recently been identified, in addition to the HLA association previously described. The International MS Genetics Consortium in collaboration with the Wellcome Trust Case Control Consortium recently published a genome-wide study of 9,722 MS patients and 17,376 controls. Genome-wide significant association (p < 10-8) was observed for 29 new as well as 23 previously identified gene regions, in addition to the HLA-DRB1 and -A loci .The majority of these MS-associated regions encode immune-related molecules.
Conclusion. Genetic studies of large patient and control samples obtained through international and national collaborations have identified a list of more than 50 MS risk-gene regions, in addition to HLA-DRB1 and -A loci. The risk associated with each of these loci is low, however, they collectively point to the importance of immune-related pathways in the etiology of MS.