Abstract
The critical pathogenic steps leading to clinical multiple sclerosis (MS) are generally believed to be regulated by several different genes, with five to ten genes theoretically having a major impact on disease susceptibility [1-3]. This is supported by epidemiological data demonstrating a considerable lowering of concordance rates from monozygotic to dizygotic twins [4]. It has been known for approximately 30 years that certain haplotypes of the HLA gene region predispose for MS. In particular, individuals carrying HLA DR2 (DRB1*1501DRB5*0101-DQA1*0102-DQB1*0602) are at higher risk. HLA DR3 provides some risk increase, while in certain populations DR4 may be important [5, 6]. So far the HLA complex remains the only well-established genome region known to influence MS [4, 7-9], in spite of the fact that estimations of the relative genetic risk conveyed by the HLA complex alone vary between 5% and 60% [7, 10, 11]. Notably, no single HLA type seems to exclude MS. It is therefore clear that as yet unidentified genes residing outside the HLA must also be of importance for disease susceptibility in MS.
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Piehl, F., Lidman, O., Olsson, T. (2004). Genetic Regulation of Nerve Cell Death/Glial Activation and Protective Effects of Myelin Basic Protein Autoimmune Neurotrophin Production in Mechanically Induced Neurodegeneration. In: Hommes, O.R., Comi, G. (eds) Early Indicators Early Treatments Neuroprotection in Multiple Sclerosis. Topics in Neuroscience. Springer, Milano. https://doi.org/10.1007/978-88-470-2117-4_3
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