The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1.

• Main Authors: Bjørn A Nexø, Tove Christensen, Jette Frederiksen, Anné Møller-Larsen, Annette B Oturai, Palle Villesen, Bettina Hansen, Kari K Nissen, Magdalena J Laska, Trine S Petersen, Sandra Bonnesen, Anne Hedemand, Tingting Wu, Xinjie Wang, Xiuqing Zhang, Tomasz Brudek, Romana Maric, Helle B Søndergaard, Finn Sellebjerg, Klaus Brusgaard, Anders L Kjeldbjerg, Henrik B Rasmussen, Anders L Nielsen, Mette Nyegaard, Thor Petersen, Anders D Børglum, Finn S Pedersen
• Format: Article
• Language: English
• Published: Public Library of Science (PLoS) 2011-02-01
• Series: PLoS ONE
• Online Access: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21311761/pdf/?tool=EBI

We have investigated the role of human endogenous retroviruses in multiple sclerosis by analyzing the DNA of patients and controls in 4 cohorts for associations between multiple sclerosis and polymorphisms near viral restriction genes or near endogenous retroviral loci with one or more intact or almost-intact genes. We found that SNPs in the gene TRIM5 were inversely correlated with disease. Conversely, SNPs around one retroviral locus, HERV-Fc1, showed a highly significant association with disease. The latter association was limited to a narrow region that contains no other known genes. We conclude that HERV-Fc1 and TRIM5 play a role in the etiology of multiple sclerosis. If these results are confirmed, they point to new modes of treatment for multiple sclerosis.