|Genetics of adult-onset MS and interaction with enviromental risk factros for MS|| |
|1Karolinska Insitutet, Clinical Neuroscience, Stockholm, Sweden|
|Multiple sclerosis (MS) is a multifactorial disease where both environmental and genetic risk factors play a role. The heritability has been estimated to be 64% and the familial aggregation for sibling is 7.1. The polymorphisms associated with the largest risk for MS, such as HLA-DRB1*15:01 with and odds ratio (OR) of 3, are found on chromosome 6 in the Major histocompatibility complex (MHC). |
More than 100 genetic polymorphisms outside the MHC have been identified in association with MS mostly by mapping close to genes involved in immunoregulation. For many of these polymorphisms it remains to be established how they affect the risk of developing MS. A first step towards such an understanding may be to investigate the control of expression of genes near the associated polymorphisms. This has shown that it is not always the expression of the gene closest to the polymorphism that is affected.
Several environmental factors have been associated to risk for developing MS including smoking, obesity, EBV infections and lack of sun exposure. Interactions between major genetic risk factors and environmental exposures have been observed making it possible to begin to form groups of risk factors that are jointly involved in MS pathogenesis.
PhD Ingrid Kockum , Karolinska Institutet , Stockholm , SE
Assigned in sessions:
11.09.2014, 17:00-17:45, Hot topic sessions, HT1, Genetics of MS (HT1.1-HT1.3), Grand Ballroom