title: A novel haplotype of the endogenous retrovirus, HRES-1, in patients with multiple sclerosis and healthy individuals.
abstract: In this study we searched for genetic variation in a segment of the human endogenous retrovirus, HRES-1, which encodes a potential autoantigen of 28 kDa. The purpose was to further investigate a possible association between this endogenous retrovirus and multiple sclerosis (MS). Fragments amplified from the HRES-1 region in question were subjected to single strand conformational analysis (SSCP analysis) and sequencing if the SSCP migration pattern suggested presence of polymorphisms. Using this approach a synonymous G --> C substitution, creating an NciI site, was found. Our sequence data also revealed an additional nucleotide in the region encoding the 28-kDa protein, i.e. a nucleotide not present in the first published sequence. This finding has implications for future studies of the 28-kDa HRES-1 protein since the additional nucleotide changes the reading frame of this protein. The detection of the Nci polymorphism allowed us to define a novel haplotype of HRES-1 distinct from the three previously known HRES-1 haplotypes. On comparison of the distribution of these four haplotypes in MS patients and healthy individuals we found a statistically significant difference (P = 0.03) but the contribution from the novel haplotype to this was modest.
authors.affiliation: Department of Life Science and Chemistry, Roskilde University, Denmark.
authors.forename: H B
authors.initials: HB
authors.lastname: Rasmussen
authors.forename: J
authors.initials: J
authors.lastname: Clausen
mesh_terms: D000483:Alleles; D020077:Endogenous Retroviruses / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D009103:Multiple Sclerosis / Q000235:genetics* / Q000821:virology