Journal of IiMER Volume 10 Issue 1 June 2016 From Norway Haukeland University Hospital: Brief status of the Project on Genetic Predisposition to ME / CFS A published study shows a clear genetic predisposition to ME (Albright et al, 2011). This was a population-based study in which risk of ME was 2.7 times higher in first-degree relatives of CFS patients, 2.3 times higher in second degree relatives, and 1.93 times higher in cubic relatives, compared with the risk of ME in the general population. Our research group at the Department of Oncology, Haukeland University Hospital, has in recent years been contacted by several independent families with striking incidence of ME and they all have wanted us to do further analysis on mapping of genetic predisposition. We believe mapping of gene changes in affected patients will be an important step forward in the understanding of disease mechanisms. We conducted exome sequencing from both CFS patients and healthy family members, where all the coding regions of the genome, including the flanking intro regions were characterized. This technique is considered experimental diagnostic / research and is not considered a full investigation of all genetic variants that exist in a human. Initially we will only answer the question of what is the molecular genetic predisposition to ME disease in our patients. Exome that constitutes the coding parts of genes including the flanking intron portions, is approximately 1.5% of the total DNA of a human cell, but about 85% of all known mutations is still located therein. We imagine that some families may have genetic variants of immune genes such as HLA genes, where it is known that specific HLA types are correlated with various autoimmune diseases. HLA genes in ME are being examined in a specific project at OUS, led by Benedicte Lie, Marthe Viken and Torstein Egeland. At Haukeland Hospital, we are most concerned about families with significant incidence of ME disease, often with multiple siblings with onset relatively early age, often with a relatively severe illness, and preferably with ME disease in successive generations. We believe some such families may have genetic variants directly in the "effector system" for symptoms (which symptoms are created), and where the detection of such variants can tell us about disease mechanisms. Invest in ME (Charity Nr. 1114035) www.investinme.org Page 40 of 77

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